Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
Open accessAbstract
As part of a broader collaborative network of exome sequencing studies, we developed a jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a resource of site and allele frequencies, which should serve as a reference for medical genetics in the Ashkenazim (hosted in part at https://ibd.broadinstitute.org, also available in gnomAD at http://gnomad.broadinstitute.org). We estimate that 34% of protein-coding alleles present in the Ashkenazi Jewish population at frequencies greater than 0.2% are significantly more frequent (mean 15-fold) than their maximum frequency observed in other reference populations. Arising via a well-described founder effect approximately 30 generations ago, this catalog of enriched alleles can contribute to differences in genetic risk and overall prevalence of diseases between populations. As validation we document 148 AJ enriched protein-altering alleles that overlap with "pathogenic" ClinVar alleles (table available at https://github.com/macarthur-lab/clinvar/blob/master/output/clinvar.tsv), including those that account for 10-100 fold differences in prevalence between AJ and non-AJ populations of some rare diseases, especially recessive conditions, including Gaucher disease (GBA, p.Asn409Ser, 8-fold enrichment); Canavan disease (ASPA, p.Glu285Ala, 12-fold enrichment); and Tay-Sachs disease (HEXA, c.1421+1G>C, 27-fold enrichment; p.Tyr427IlefsTer5, 12-fold enrichment). We next sought to use this catalog, of well-established relevance to Mendelian disease, to explore Crohn's disease, a common disease with an estimated two to four-fold excess prevalence in AJ. We specifically attempt to evaluate whether strong acting rare alleles, particularly protein-truncating or otherwise large effect-size alleles, enriched by the same founder-effect, contribute excess genetic risk to Crohn's disease in AJ, and find that ten rare genetic risk factors in NOD2 and LRRK2 are enriched in AJ (p < 0.005), including several novel contributing alleles, show evidence of association to CD. Independently, we find that genomewide common variant risk defined by GWAS shows a strong difference between AJ and non-AJ European control population samples (0.97 s.d. higher, p<10-16). Taken together, the results suggest coordinated selection in AJ population for higher CD risk alleles in general. The results and approach illustrate the value of exome sequencing data in case-control studies along with reference data sets like ExAC (sites VCF available via FTP at ftp.broadinstitute.org/pub/ExAC_release/release0.3/) to pinpoint genetic variation that contributes to variable disease predisposition across populations.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
LD patterns may be variable within European populations, accentuating the possible influence of LD reference series on conditional analyses in some cases.
“This may be particularly crucial at these loci where LD patterns may be variable within European populations, accentuating the possible influence of LD reference series on conditional analyses in some cases (48).”
From Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (2019) · cites this paper as [48]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607 · see citing works
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works
Fast model-based estimation of ancestry in unrelated individuals
Alexander, D. H., Novembre, J., & Lange, K. (2009) · Genome Research · doi:10.1101/gr.094052.109 · Cited by 9,898 · see citing works
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works
Shrestha, S., & Offer, S. M. (2016) · Medical Epigenetics · doi:10.1159/000444713 · Cited by 8,949 · see citing works
Biological insights from 108 schizophrenia-associated genetic loci
Schizophrenia Working Group of the Psychiatric Genomics Consortium (2014) · Nature · doi:10.1038/nature13595 · Cited by 7,577 · see citing works
Bayesian model selection in social research
Raftery, A. E. (1995) · Sociological Methodology · doi:10.2307/271063 · Cited by 6,823 · see citing works
Bias reduction of maximum likelihood estimates
FIRTH, D. (1993) · Biometrika · doi:10.1093/biomet/80.1.27 · Cited by 5,035 · see citing works
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
Ogura, Y., Bonen, D. K., Inohara, N., Nicolae, D. L., Chen, F. F., Ramos, R., Britton, H., Moran, T., Karaliuskas, R., Duerr, R. H., et al. (2001) · Nature · doi:10.1038/35079114 · Cited by 5,030 · see citing works
Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
The International IBD Genetics Consortium (IIBDGC), Jostins, L., Ripke, S., Weersma, R. K., Duerr, R. H., McGovern, D. P., Hui, K. Y., Lee, J. C., Philip Schumm, L., Sharma, Y., et al. (2012) · Nature · doi:10.1038/nature11582 · Cited by 4,722 · see citing works
ClinVar: public archive of interpretations of clinically relevant variants
Landrum, M. J., Lee, J. M., Benson, M., Brown, G., Chao, C., Chitipiralla, S., Gu, B., Hart, J., Hoffman, D., Hoover, J., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkv1222 · Cited by 2,758 · see citing works
Liu, J. Z., van Sommeren, S., Huang, H., Ng, S. C., Alberts, R., Takahashi, A., Ripke, S., Lee, J. C., Jostins, L., Shah, T., et al. (2015) · Nature Genetics · doi:10.1038/ng.3359 · Cited by 2,603 · see citing works
Baumgart, D. C., & Sandborn, W. J. (2012) · The Lancet · doi:10.1016/s0140-6736(12)60026-9 · Cited by 2,205 · see citing works
The genetic architecture of type 2 diabetes
Fuchsberger, C., Flannick, J., Teslovich, T. M., Mahajan, A., Agarwala, V., Gaulton, K. J., Ma, C., Fontanillas, P., Moutsianas, L., McCarthy, D. J., et al. (2016) · Nature · doi:10.1038/nature18642 · Cited by 1,051 · see citing works
Genomewide Association Study of Leprosy
Zhang, F., Huang, W., Chen, S., Sun, L., Liu, H. D., Li, Y., Cui, Y., Yan, X., Yang, H., Yang, R., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0903753 · Cited by 1,037 · see citing works
National Institute of Diabetes and Digestive Kidney Diseases Inflammatory Bowel Disease Genetics Consortium (NIDDK IBDGC), Rivas, M. A., United Kingdom Inflammatory Bowel Disease Genetics Consortium, International Inflammatory Bowel Disease Genetics Consortium, Beaudoin, M., Gardet, A., Stevens, C., Sharma, Y., Zhang, C. K., Boucher, G., et al. (2011) · Nature Genetics · doi:10.1038/ng.952 · Cited by 771 · see citing works
The ExAC browser: displaying reference data information from over 60 000 exomes
Karczewski, K. J., Weisburd, B., Thomas, B., Solomonson, M., Ruderfer, D. M., Kavanagh, D., Hamamsy, T., Lek, M., Samocha, K. E., Cummings, B. B., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw971 · Cited by 767 · see citing works
LRRK2 G2019S as a Cause of Parkinson's Disease in Ashkenazi Jews
Ozelius, L. J., Senthil, G., Saunders-Pullman, R. J., Ohmann, E. L., Deligtisch, A., Tagliati, M., Hunt, A. L., Klein, C., Henick, B. S., Hailpern, S. M., et al. (2006) · New England Journal of Medicine · doi:10.1056/nejmc055509 · Cited by 663 · see citing works
Bernstein, C. N., Blanchard, J., Rawsthorne, P. E., & Wajda, A. (1999) · American Journal of Epidemiology · doi:10.1093/oxfordjournals.aje.a009735 · Cited by 661 · see citing works
Searching for missing heritability: Designing rare variant association studies
Zuk, O., Schaffner, S. F., Samocha, K., Do, R., Hechter, E., Kathiresan, S., Daly, M. J., Neale, B. M., Sunyaev, S. R., & Lander, E. S. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1322563111 · Cited by 635 · see citing works
Self-citationFine-mapping inflammatory bowel disease loci to single-variant resolution
International Inflammatory Bowel Disease Genetics Consortium, Huang, H., Fang, M., Jostins, L., Umićević Mirkov, M., Boucher, G., Anderson, C. A., Andersen, V., Cleynen, I., Cortes, A., et al. (2017) · Nature · doi:10.1038/nature22969 · Cited by 611 · see citing works
Self-citationA Bayesian Measure of the Probability of False Discovery in Genetic Epidemiology Studies
Wakefield, J. (2007) · The American Journal of Human Genetics · doi:10.1086/519024 · Cited by 486 · see citing works
A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes
Moltke, I., Grarup, N., Jørgensen, M. E., Bjerregaard, P., Treebak, J. T., Fumagalli, M., Korneliussen, T. S., Andersen, M. A., Nielsen, T. S., Krarup, N. T., et al. (2014) · Nature · doi:10.1038/nature13425 · Cited by 418 · see citing works
Unified representation of genetic variants
Tan, A. K. S., Abecasis, G. R., & Kang, H. M. (2015) · Bioinformatics · doi:10.1093/bioinformatics/btv112 · Cited by 388 · see citing works
Evidence of widespread selection on standing variation in Europe at height-associated SNPs
Turchin, M. C., Chiang, C. W., Palmer, C. D., Sankararaman, S., Reich, D., Genetic Investigation of ANthropometric Traits (GIANT) Consortium, & Hirschhorn, J. N. (2012) · Nature Genetics · doi:10.1038/ng.2368 · Cited by 329 · see citing works
Heliö, T. M., Halme, L., Lappalainen, M., Fodstad, H., Paavola-Sakki, P., Turunen, U., Färkkilä, M. A., Krusius, T., & Kontula, K. (2003) · Gut · doi:10.1136/gut.52.4.558 · Cited by 270 · see citing works
Carrier screening in individuals of Ashkenazi Jewish descent
Gross, S. J., Pletcher, B. A., & Monaghan, K. G. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e31815f247c · Cited by 211 · see citing works
Commensal bacteria direct selective cargo sorting to promote symbiosis
Zhang, Q., Pan, Y., Yan, R., Zeng, B., Wang, H., Zhang, X., Li, W., Wei, H., & Liu, Z. (2015) · Nature Immunology · doi:10.1038/ni.3233 · Cited by 206 · see citing works
Incidence of inflammatory bowel disease in finnish children, 1987–2003
Turunen, P., Kolho, K., Auvinen, A. P., Iltanen, S., Huhtala, H., & Ashorn, M. H. (2006) · Inflammatory Bowel Diseases · doi:10.1097/00054725-200608000-00002 · Cited by 173 · see citing works
Gershoni‐Baruch, R., Broza, Y., & Brik, R. (2003) · The Journal of Pediatrics · doi:10.1067/s0022-3476(03)00502-x · Cited by 160 · see citing works
The genetics of inflammatory bowel disease
Ahmad, T., Satsangi, J., McGovern, D. P. B., Bunce, M., & Jewell, D. P. (2001) · Alimentary Pharmacology & Therapeutics · doi:10.1046/j.1365-2036.2001.00981.x · Cited by 155 · see citing works
A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci
Kenny, E. E., Pe’er, I., Karban, A. A., Ozelius, L. J., Mitchell, A. A., Ng, S. M. E., Erazo, M., D, H. O. M., Abraham, C., Abreu, M. T., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002559 · Cited by 153 · see citing works
Ma, C., Blackwell, T. W., Boehnke, M., & Scott, L. J. (2013) · Genetic Epidemiology · doi:10.1002/gepi.21742 · Cited by 151 · see citing works
Demography and the Age of Rare Variants
Mathieson, I., & McVean, G. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004528 · Cited by 146 · see citing works
The population genetics of the Jewish people
D, H. O. M., & Skorecki, K. L. (2012) · Human Genetics · doi:10.1007/s00439-012-1235-6 · Cited by 127 · see citing works
Imputation-Based Meta-Analysis of Severe Malaria in Three African Populations
Band, G., Le, S. Q., Jostins, L., Pirinen, M., Kivinen, K., Jallow, M., Sisay-Joof, F., Bojang, K., Pinder, M., Sirugo, G., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003509 · Cited by 115 · see citing works
Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy
Liu, H., Irwanto, A. K., Fu, X., Yu, G., Yu, Y., Sun, Y., Wang, C., Wang, Z., Okada, Y., Low, H.-Q., et al. (2015) · Nature Genetics · doi:10.1038/ng.3212 · Cited by 114 · see citing works
Richard, M. L., Lamas, B., Liguori, G., Hoffmann, T. W., & Sokol, H. (2015) · Inflammatory Bowel Diseases · doi:10.1097/mib.0000000000000261 · Cited by 113 · see citing works
Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation
Edvardson, S., Shaag, A., Zenvirt, S., Erlich, Y., Hannon, G. J., Shanske, A. L., Gomori, J. M., Ekstein, J., & Elpeleg, O. N. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.12.007 · Cited by 108 · see citing works
Familial prevalence of inflammatory bowel disease in relatives of patients with Crohn's disease.
Mayberry, J. F., Rhodes, J., & Newcombe, R. G. (1980) · BMJ · doi:10.1136/bmj.280.6207.84 · Cited by 96 · see citing works
Expanded genetic screening panel for the Ashkenazi Jewish population
Baskovich, B. W., Hiraki, S. C., Upadhyay, K., Meyer, P., Carmi, S., Barzilai, N., Darvasi, A., Ozelius, L. J., Peter, I., Cho, J. H., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.123 · Cited by 80 · see citing works
A Common Genetic Fingerprint in Leprosy and Crohn's Disease?
Schurr, E., & Gros, P. (2009) · New England Journal of Medicine · doi:10.1056/nejme0910690 · Cited by 78 · see citing works
Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck
Balick, D. J., Do, R., Cassa, C. A., Reich, D., & Sunyaev, S. R. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005436 · Cited by 77 · see citing works
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
Rivas, M. A., Graham, D. B., Sulem, P., Stevens, C. R., Desch, A. N., Goyette, P., Gudbjartsson, D. F., Jónsdóttir, I., Þorsteinsdóttir, U., Degenhardt, F. C., et al. (2016) · Nature Communications · doi:10.1038/ncomms12342 · Cited by 59 · see citing works
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population
Lim, E. T., Würtz, P., Havulinna, A. S., Palta, P., Tukiainen, T., Rehnström, K., Esko, T., Mägi, R., Inouye, M., Lappalainen, T., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004494 · Cited by 49 · see citing works
Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients
Edvardson, S., Gerhard, F., Jalas, C., Lachmann, J., Golan, D., Saada, A., Shaag, A., Ungermann, C., & Elpeleg, O. N. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103239 · Cited by 47 · see citing works
Edvardson, S., Kose, S., Jalas, C., Fattal-Valevski, A., Watanabe, A., Ogawa, Y., Mamada, H., Fedick, A. M., Ben-Shachar, S., Treff, N. R., et al. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103232 · Cited by 33 · see citing works
Nakagome, S., Mano, S., Kozlowski, L. P., Bujnicki, J. M., Shibata, H., Fukumaki, Y., Kidd, J. R., Kídd, K. K., Kawamura, S., & Oota, H. (2012) · Molecular Biology and Evolution · doi:10.1093/molbev/mss006 · Cited by 29 · see citing works
Fedick, A., Jalas, C., Treff, N. R., Knowles, M. R., & Zariwala, M. A. (2014) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.124 · Cited by 28 · see citing works
Founder Fukutin mutation causes Walker–Warburg syndrome in four Ashkenazi Jewish families
Chung, W. K., Winder, T. L., LeDuc, C. A., Simpson, L. L., Millar, W. S., Dungan, J., Ginsberg, N., Plaga, S., Moore, S. A., & Chung, W. K. (2009) · Prenatal Diagnosis · doi:10.1002/pd.2238 · Cited by 27 · see citing works
Moonesinghe, R., Ioannidis, J. P. A., Flanders, W. D., Yang, Q., Truman, B. I., & Khoury, M. J. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.15 · Cited by 26 · see citing works
Association mapping of inflammatory bowel disease loci to single variant resolutionPreprint
Huang, H., Fang, M., Jostins, L., et al. (2015) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/028688 · Cited by 25 · see citing works
Self-citationAmendments and Corrections: Bias Reduction of Maximum Likelihood Estimates
Firth, D. (1995) · Biometrika · doi:10.2307/2337546 · Cited by 24 · see citing works
Lappalainen, M., Paavola–Sakki, P., Halme, L., Turunen, U., Färkkilä, M. A., Repo, H., & KONTULA, K. K. (2007) · Inflammatory Bowel Diseases · doi:10.1002/ibd.20287 · Cited by 21 · see citing works
Genetics of inflammatory bowel disease.
Karban, A. A., Eliakim, R., & Brant, S. R. (2002) · PubMed · Cited by 20 · see citing works
Carrier frequency of two BBS2 mutations in the Ashkenazi population
Fedick, A., Jalas, C., Abeliovich, D., Krakinovsky, Y., Ekstein, J., Ekstein, A., & Treff, N. R. (2013) · Clinical Genetics · doi:10.1111/cge.12231 · Cited by 12 · see citing works
'Bias reduction of maximum likelihood estimates'
Firth, D. (1995) · Biometrika · doi:10.1093/biomet/82.3.667-b · Cited by 11 · see citing works
Fedick, A., Jalas, C., & Treff, N. R. (2013) · Clinical Genetics · doi:10.1111/cge.12170 · Cited by 9 · see citing works
The epidemiology of inflammatory bowel disease
Sandler, R. S. (1990) · Current Opinion in Gastroenterology · doi:10.1097/00001574-199008000-00002 · Cited by 7 · see citing works
Rare variant association studies
Bahcall, O. G. (2014) · Nature Genetics · doi:10.1038/ng.2908 · Cited by 6 · see citing works
The ExAC Browser: Displaying reference data information from over 60,000 exomes
Karczewski, K. J., Weisburd, B., Thomas, B., Ruderfer, D. M., Kavanagh, D., Hamamsy, T., Lek, M., Samocha, K. E., Cummings, B. B., Birnbaum, D., et al. (2016) · doi:10.1101/070581 · Cited by 6
Self-citation
Flagged first, then by citations
Research works printed but not linked: 2
- [35]Jostins L. Using next-generation genomic datasets in disease association. (University of Cambridge, 2013).
- [50]Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature 511, 421– 427 (2014). doi: 10.1038/nature13595 25056061 PMC4112379 · DOI · Paper page
Cited by
Sorted by citations
Nalls, M. A., Blauwendraat, C., Vallerga, C. L., Heilbron, K., Bandres-Ciga, S., Chang, D., Tan, M., Kia, D. A., Noyce, A. J., Xue, A., et al. (2019) · The Lancet Neurology · doi:10.1016/s1474-4422(19)30320-5 · Cited by 2,454 · see citing works
Inflammation and immune dysfunction in Parkinson disease
Tansey, M. G., Wallings, R. L., Houser, M. C., Herrick, M. K., Keating, C. E., & Joers, V. (2022) · Nature Reviews Immunology · doi:10.1038/s41577-022-00684-6 · Cited by 1,382 · see citing works
Pathway paradigms revealed from the genetics of inflammatory bowel disease
Graham, D. B., & Xavier, R. J. (2020) · Nature · doi:10.1038/s41586-020-2025-2 · Cited by 769 · see citing works
Parkinson disease and the immune system - Associations, mechanisms and therapeutics
Tan, E.-K., Chao, Y.-X., West, A., Chan, L.-L., Poewe, W., & Jankovic, J. (2020) · Nature Reviews Neurology · doi:10.1038/s41582-020-0344-4 · Cited by 457 · see citing works
How autophagy controls the intestinal epithelial barrier
Foerster, E. G., Mukherjee, T., Cabral-Fernandes, L., da Rocha, J. D. B., Girardin, S. E., & Philpott, D. J. (2021) · Autophagy · doi:10.1080/15548627.2021.1909406 · Cited by 415 · see citing works
Blauwendraat, C., Reed, X., Krohn, L., Heilbron, K., Bandrés‐Ciga, S., Tan, M. M. X., Gibbs, J. R., Hernandez, D. G., Kumaran, R., Langston, R. G., et al. (2019) · Brain · doi:10.1093/brain/awz350 · Cited by 234 · see citing works
Sazonovs, A., Stevens, C. R., Venkataraman, G. R., Yuan, K., Avila, B. E., Abreu, M. T., Ahmad, T., Allez, M., Ananthakrishnan, A. N., Atzmon, G., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01156-2 · Cited by 197 · see citing works
Exome sequencing of Finnish isolates enhances rare-variant association power
Locke, A. E., Steinberg, K. M., Chiang, C. W. K., Service, S. K., Havulinna, A. S., Stell, L., Pirinen, M., Abel, H., Chiang, C., Fulton, R. S., et al. (2019) · Nature · doi:10.1038/s41586-019-1457-z · Cited by 170 · see citing works
LRRK2 regulation of immune-pathways and inflammatory disease
Wallings, R. L., & Tansey, M. G. (2019) · Biochemical Society Transactions · doi:10.1042/bst20180463 · Cited by 174 · see citing works
Inflammatory bowel disease and Parkinson’s disease: common pathophysiological links
Lee, H.-S., Lobbestael, E., Vermeire, S., Sabino, J., & Cleynen, I. (2021) · Gut · doi:10.1136/gutjnl-2020-322429 · Cited by 151 · see citing works
Human Disease Variation in the Light of Population Genomics
Prohaska, A., Racimo, F., Schork, A. J., Sikora, M., Stern, A. J., Ilardo, M. A., Allentoft, M. E., Folkersen, L., Buil, A., Moreno-Mayar, J. V., et al. (2019) · Cell · doi:10.1016/j.cell.2019.01.052 · Cited by 108 · see citing works
Insights from complex trait fine-mapping across diverse populationsPreprint
Kanai, M., Ulirsch, J. C., Karjalainen, J. M., Kurki, M., Karczewski, K. J., Fauman, E. B., Wang, Q. S., Jacobs, H., Aguet, F., Ardlie, K., et al. (2021) · medRxiv · doi:10.1101/2021.09.03.21262975 · Cited by 96 · see citing works
The 1000IBD project: multi-omics data of 1000 inflammatory bowel disease patients; data release 1
Imhann, F., van der Velde, K. J., Barbieri, R., Alberts, R., Voskuil, M. D., Vila, A. V., Collij, V., Spekhorst, L. M., van der Sloot, K. W. J., Peters, V., et al. (2019) · BMC Gastroenterology · doi:10.1186/s12876-018-0917-5 · Cited by 98 · see citing works
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases
Liu, W., Pajusalu, S., Lake, N. J., Zhou, G., Ioannidis, N. M., Mittal, P., Johnson, N. E., Weihl, C. C., Williams, B. A., Albrecht, D. E., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0544-8 · Cited by 93 · see citing works
Južnić, L., Peuker, K., Strigli, A., Brosch, M., Herrmann, A., Häsler, R., Koch, M., Matthiesen, L., Zeißig, Y., Löscher, B.-S., et al. (2020) · Gut · doi:10.1136/gutjnl-2020-321339 · Cited by 83 · see citing works
Grasberger, H., Magis, A. T., Sheng, E., Conomos, M. P., Zhang, M., Garzotto, L. S., Hou, G., Bishu, S., Nagao‐Kitamoto, H., Zaatari, M. E., et al. (2021) · Journal of Clinical Investigation · doi:10.1172/jci141676 · Cited by 79 · see citing works
LRRK2 at the Interface Between Peripheral and Central Immune Function in Parkinson’s
Wallings, R. L., Herrick, M. K., & Tansey, M. G. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.00443 · Cited by 77 · see citing works
Helgadóttir, A., Sulem, P., Þorgeirsson, G., Grétarsdóttir, S., Þorleifsson, G., Jensson, B. Ö., Arnadottir, G. A., Ólafsson, Í., Eyjolfsson, G. I., Sigurðardóttir, Ó., et al. (2018) · European Heart Journal · doi:10.1093/eurheartj/ehy169 · Cited by 73 · see citing works
Genomics of rare genetic diseases—experiences from India
Sivasubbu, S., & Scaria, V. (2019) · Human Genomics · doi:10.1186/s40246-019-0215-5 · Cited by 75 · see citing works
Modulating the Microbiome for Crohn’s Disease Treatment
Gowen, R., Gamal, A., Martino, L. D., McCormick, T. S., & Ghannoum, M. A. (2023) · Gastroenterology · doi:10.1053/j.gastro.2023.01.017 · Cited by 65 · see citing works
Malassezia and Parkinson's Disease
Laurence, M., Benito‐León, J., & Calon, F. (2019) · Frontiers in Neurology · doi:10.3389/fneur.2019.00758 · Cited by 62 · see citing works
A purine metabolic checkpoint that prevents autoimmunity and autoinflammation
Saveljeva, S., Sewell, G. W., Ramshorn, K., Cader, M. Z., West, J. A., Clare, S., Haag, L.-M., Rodrigues, R. P. D. A., Unger, L. W., Iglesias-Romero, A. B., et al. (2022) · Cell Metabolism · doi:10.1016/j.cmet.2021.12.009 · Cited by 50 · see citing works
The Multifactorial Etiopathogeneses Interplay of Inflammatory Bowel Disease: An Overview
M’Koma, A. E. (2018) · Gastrointestinal Disorders · doi:10.3390/gidisord1010007 · Cited by 46 · see citing works
Dynamic role of macrophage CX3CR1 expression in inflammatory bowel disease
Li, J., Zhou, H., Fu, X., Zhang, M., Sun, F., & Fan, H. (2021) · Immunology Letters · doi:10.1016/j.imlet.2021.02.001 · Cited by 43 · see citing works
Fine-scale population structure and demographic history of British Pakistanis
Arciero, E., Dogra, S. A., Malawsky, D. S., Mezzavilla, M., Tsismentzoglou, T., Huang, Q. Q., Hunt, K. A., Mason, D., Sharif, S. M., van Heel, D. A., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-27394-2 · Cited by 36 · see citing works
Cabezudo, D., Tsafaras, G., Acker, E. V., den Haute, C. V., & Baekelandt, V. (2023) · Acta Neuropathologica · doi:10.1007/s00401-023-02595-9 · Cited by 35 · see citing works
Studies on patients establish Crohn's disease as a manifestation of impaired innate immunity
Segal, A. W. (2019) · Journal of Internal Medicine · doi:10.1111/joim.12945 · Cited by 35 · see citing works
Brace, S., Diekmann, Y., Booth, T., Macleod, R., Timpson, A., Stephen, W., Emery, G., Cabot, S., Thomas, M., & Barnes, I. (2022) · Current Biology · doi:10.1016/j.cub.2022.08.036 · Cited by 34 · see citing works
How autophagy, a potential therapeutic target, regulates intestinal inflammation
Chen, S.-L., Li, C., Li, W., Liu, Q., Hu, S., Zhao, M., Hu, D.-S., Hao, Y., Zeng, J., & Zhang, Y. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1087677 · Cited by 32 · see citing works
Boles, J. S., Krueger, M. E., Jernigan, J. E., Cole, C. L., Neighbarger, N. K., Huarte, O. U., & Tansey, M. G. (2024) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2024.02.007 · Cited by 31 · see citing works
The role of ERK-1 and ERK-2 gene polymorphisms in PCOS pathogenesis
Güney, G., Taşkın, M. İ., Şener, N., Cenk, E. T., Dodurga, Y., Elmas, L., Çetin, O., & Sarigul, C. (2022) · Reproductive Biology and Endocrinology · doi:10.1186/s12958-022-00967-6 · Cited by 29 · see citing works
Rare and common variant discovery in complex disease: the IBD case study
Venkataraman, G. R., & Rivas, M. A. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz189 · Cited by 29 · see citing works
Lencz, T., Yu, J., Khan, R. R., Flaherty, E. K., Carmi, S., Lam, M., Ben‐Avraham, D., Barzilai, N., Bressman, S., Darvasi, A., et al. (2021) · Neuron · doi:10.1016/j.neuron.2021.03.004 · Cited by 29 · see citing works
The role of LRRK2 in the periphery: link with Parkinson's disease and inflammatory diseases
Tsafaras, G., & Baekelandt, V. (2022) · Neurobiology of Disease · doi:10.1016/j.nbd.2022.105806 · Cited by 28 · see citing works
The lysosomal β-glucocerebrosidase strikes mitochondria: implications for Parkinson’s therapeutics
Rubilar, J. C., Outeiro, T. F., & Klein, A. D. (2024) · Brain · doi:10.1093/brain/awae070 · Cited by 27 · see citing works
Pathophysiology and Treatment of Canavan Disease
Pleasure, D., Guo, F., Chechneva, O. V., Bannerman, P. G. C., McDonough, J. A., Burns, T., Wang, Y., & Hull, V. L. (2018) · Neurochemical Research · doi:10.1007/s11064-018-2693-6 · Cited by 27 · see citing works
Ma, C., Storer, C. E., Chandran, U. R., LaFramboise, W. A., Petrosko, P., Frank, M., Hartman, D. J., Pantanowitz, L., Haritunians, T., Head, R. D., et al. (2021) · EBioMedicine · doi:10.1016/j.ebiom.2021.103347 · Cited by 24 · see citing works
Kars, M. E., Wu, Y., Stenson, P. D., Cooper, D. N., Burisch, J. M., Peter, I., & Itan, Y. (2024) · Genome Medicine · doi:10.1186/s13073-024-01335-2 · Cited by 23 · see citing works
Kim, H. I., Ye, B., Gosalia, N., Köroğlu, Ç., Hanson, R. L., Hsueh, W., Knowler, W. C., Baier, L. J., Bogardus, C., Shuldiner, A. R., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.06.009 · Cited by 23 · see citing works
Germline CDKN1B variant type and site are associated with phenotype in MEN4
Halperin, R., Arnon, L., Nasirov, S., Friedensohn, L., Gershinsky, M., Telerman, A., Friedman, E., Bernstein‐Molho, R., & Tirosh, A. (2022) · Endocrine Related Cancer · doi:10.1530/erc-22-0174 · Cited by 23 · see citing works
Crohn’s Disease Susceptibility and Onset Are Strongly Related to Three NOD2 Gene Haplotypes
Kaczmarek-Ryś, M., Hryhorowicz, S., Lis, E., Banasiewicz, T., Paszkowski, J., Borejsza‐Wysocki, M., Walkowiak, J., Cichy, W., Krokowicz, P., Czkwianianc, E., et al. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10173777 · Cited by 18 · see citing works
Moayyedi, P., MacQUEEN, G. M., Bernstein, C. N., Vanner, S. J., Berčík, P., Madsen, K. L., Surette, M. G., Rioux, J. D., Dieleman, L. A., Verdu, E. F., et al. (2020) · BMJ Open · doi:10.1136/bmjopen-2020-041733 · Cited by 17 · see citing works
Zlotogora, J., Patrinos, G. P., & Meiner, V. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.193 · Cited by 17 · see citing works
Peter, I., & Strober, W. (2023) · Journal of Parkinson s Disease · doi:10.3233/jpd-230021 · Cited by 16 · see citing works
Wu, Y., Gettler, K., Kars, M. E., Giri, M., Li, D., Bayrak, Ç. S., Zhang, P., Jain, A., Maffucci, P., Sabic, K., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-37849-3 · Cited by 15 · see citing works
A New Look at Familial Risk of Inflammatory Bowel Disease in the Ashkenazi Jewish Population
Schiff, E., Frampton, M., Semplici, F., Bloom, S. L., McCartney, S. A., Vega, R., Lovat, L. B., Wood, E., Hart, A. L., Crespi, D., et al. (2018) · Digestive Diseases and Sciences · doi:10.1007/s10620-018-5219-9 · Cited by 15 · see citing works
Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease
Ben-Yosef, N., Frampton, M., Schiff, E., Daher, S., Baker, F. A., Safadi, R., Israeli, E., Segal, A. W., & Levine, A. P. (2021) · Gastroenterology report · doi:10.1093/gastro/goab007 · Cited by 13 · see citing works
A nod to the bond between NOD2 and mycobacteria
Dubé, J.-Y., & Behr, M. A. (2023) · PLoS Pathogens · doi:10.1371/journal.ppat.1011389 · Cited by 13 · see citing works
Collij, V., Imhann, F., Vila, A. V., Fu, J., Dijkstra, G. D. H., Festen, E. A. M., Voskuil, M. D., Daly, M. J., Xavier, R. J., Wijmenga, C., et al. (2019) · PLoS ONE · doi:10.1371/journal.pone.0211328 · Cited by 13 · see citing works
Samadi, S., Farjami, Z., Hosseini, Z. S., Ferns, G. A., Mohammadpour, A. H., Tayefi, M., Falsoleiman, H., Moohebati, M., Ghayour‐Mobarhan, M., Esmaily, H., et al. (2019) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2019.06.014 · Cited by 12 · see citing works
New Perspectives on Immune Involvement in Parkinson’s Disease Pathogenesis
Gate, D. (2022) · Journal of Parkinson s Disease · doi:10.3233/jpd-223240 · Cited by 12 · see citing works
Granot‐Hershkovitz, E., Karasik, D., Friedlander, Y., Rodriguez‐Murillo, L., Dorajoo, R., Liu, J., Sewda, A., Peter, I., Carmi, S., & Hochner, H. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-018-0230-3 · Cited by 12 · see citing works
Eleven Grand Challenges for Inflammatory Bowel Disease Genetics and Genomics
Gibson, G. C., Rioux, J. D., Cho, J. H., Haritunians, T., Thoutam, A., Abreu, M. T., Brant, S. R., Kugathasan, S., McCauley, J. L., Silverberg, M. S., et al. (2024) · Inflammatory Bowel Diseases · doi:10.1093/ibd/izae269 · Cited by 9 · see citing works
The regulatory role of alternative splicing in inflammatory bowel disease
Zhou, J., Zhang, Q., Zhao, Y., Song, Y., Leng, Y., Chen, M., Zhou, S., & Wang, Z. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1095267 · Cited by 10 · see citing works
Differential analysis of mutations in the Jewish population and their implications for diseases
Einhorn, Y., Weissglas‐Volkov, D., Carmi, S., D, H. O. M., Friedman, E., & Shomron, N. (2017) · Genetics Research · doi:10.1017/s0016672317000015 · Cited by 10 · see citing works
Schiff, E., Frampton, M., Ben-Yosef, N., Avila, B. E., Semplici, F., Pontikos, N., Bloom, S. L., McCartney, S. A., Vega, R., Lovat, L. B., et al. (2018) · Human Genetics · doi:10.1007/s00439-018-1927-7 · Cited by 8 · see citing works
Rare variants and founder effect in the Beauce region of Quebec
Gagnon, M., Moreau, C., Ricard, J., Boisvert, M., Bureau, A., Maziade, M., & Girard, S. (2025) · Communications Biology · doi:10.1038/s42003-025-08630-7 · Cited by 7 · see citing works
Anti-Inflammatory Effect of Traditional Chinese Medicine on the Concept of Mind-Body Interface
Tsai, S.-T., Nithiyanantham, S., Satyanarayanan, S. K., & Su, K. (2023) · Advances in experimental medicine and biology · doi:10.1007/978-981-19-7376-5_19 · Cited by 7 · see citing works
Kridin, K., Damiani, G. B., Ludwig, R. J., Tzur-Bitan, D., & Cohen, A. D. (2020) · Scandinavian Journal of Gastroenterology · doi:10.1080/00365521.2020.1786849 · Cited by 6 · see citing works
Cheng, K., Larabee, S. M., Tolaymat, M., Hanscom, M., Shang, A. C., Schledwitz, A., Hu, S., Drachenberg, C. B., Zhan, M., Chahdi, A., et al. (2021) · American Journal of Physiology-Gastrointestinal and Liver Physiology · doi:10.1152/ajpgi.00415.2020 · Cited by 6 · see citing works
Rivas, M. A., Avila, B. E., Koskela, J. T., Huang, H., Stevens, C. R., Pirinen, M., Haritunians, T., Neale, B. M., Kurki, M., Ganna, A., et al. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1008190 · Cited by 6 · see citing works
Deep resequencing identifies candidate functional genes in leprosy GWAS loci
Fava, V. M., Dallmann-Sauer, M., Orlova, M., Correa-Macedo, W., Thuc, N. V., Thai, V. H., Alcaïs, A., Abel, L., Cobat, A., & Schurr, E. (2021) · PLoS neglected tropical diseases · doi:10.1371/journal.pntd.0010029 · Cited by 5 · see citing works
Pham, T., Schelling, R. E., & Loh, K. H. (2025) · Advances in genetics · doi:10.1016/bs.adgen.2025.02.001 · Cited by 5 · see citing works
Towards IBD Prediction and Prevention: The Contribution of Genetics and Genomics
Kugathasan, S., & Fiocchi, C. (2025) · Inflammatory Bowel Diseases · doi:10.1093/ibd/izaf206 · Cited by 4 · see citing works
Chai, Z., Ouyang, Y., Debebe, A., Picker, M., Lee, W., Fenton, S., Becker, A., Augustin-Emmerichs, K., Schwiertz, A., Weber, S. N., et al. (2025) · Journal of Parkinson s Disease · doi:10.1177/1877718x251328567 · Cited by 6 · see citing works
Health care utilization of fine-scale identity by descent clusters in a Los Angeles biobankPreprint
Caggiano, C., Boudaie, A., Shemirani, R., Petter, E., Chiu, A. M., Johnson, R., Ercelen, D., Paşaniuc, B., Kenny, E. E., Shortt, J., et al. (2022) · medRxiv · doi:10.1101/2022.07.12.22277520 · Cited by 4 · see citing works
Mechanisms of inflammatory bowel diseases: Insights from human genetics and chemical biology
Graham, D. B., & Xavier, R. J. (2026) · Immunity · doi:10.1016/j.immuni.2026.04.002 · Cited by 3 · see citing works
Epidemiologie der chronisch-entzündlichen Darmerkrankungen
Timmer, A. (2020) · Springer eBooks · doi:10.1007/978-3-662-59104-8_2 · Cited by 3 · see citing works
Chaudhary, R., Rehman, M., Agarwal, V., Kumar, A., Kaushik, A. S., Srivastava, S., Srivastava, S., Verma, R., Rajinikanth, P. S., & Mishra, V. (2024) · Life Sciences · doi:10.1016/j.lfs.2024.122953 · Cited by 2 · see citing works
McDonald, B. D., Zinger, A., & Rubin, D. T. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-23947-2.00014-x · Cited by 2 · see citing works
Hereditary diseases and carrier’s screening programs in genetically isolated populations
Саввина, М. Т., Максимова, Н. Р., Сухомясова, А. Л., & Лебедев, И. Н. (2022) · Nauchno-prakticheskii zhurnal «Medicinskaia genetika» · doi:10.25557/2073-7998.2022.01.3-13 · Cited by 1 · see citing works
Recurrent Neural Networks to Automatically Identify Rare Disease Epidemiologic Studies from PubMed.
John, J. N., Sid, E., & Zhu, Q. (2021) · PubMed Central · Cited by 1 · see citing works
Exome sequencing identifies high-impact trait-associated alleles enriched in FinnsPreprint
Locke, A. E., Steinberg, K. M., Chiang, C. W., Service, S. K., Havulinna, A. S., Stell, L., Pirinen, M., Abel, H., Chiang, C., Fulton, R. S., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/464255 · Cited by 1 · see citing works
Bhérer, C., Grenier, J., Pelletier, J., Boucher, G., Gagnon, G., Goyette, P., Ashton‐Beaucage, D., Stevens, C. R., Battat, R. J., Bitton, A., et al. (2025) · medRxiv · doi:10.1101/2025.07.11.25331388 · Cited by 1 · see citing works
Wu, Y., Gettler, K., Giri, M., Li, D., Bayrak, Ç. S., Jain, A., Maffucci, P., Sabic, K., Vleck, T. T. V., Nadkarni, G. N., et al. (2020) · medRxiv · doi:10.1101/2020.07.01.20143750
ERK 1 and ERK 2 gene polymorhisms has a role in PCOS pathogenesisPreprint
Güney, G., Taşkın, M. İ., Şener, N., Cenk, E. T., Dodurga, Y., Elmas, L., Çetin, O., & Sarigul, C. (2022) · Research Square · doi:10.21203/rs.3.rs-1547878/v1
Alkuraya, F. S. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.736300835.793563460
A lifesaving revolution delayed
Liebman, S. W. (2024) · Nature Genetics · doi:10.1038/s41588-024-02013-0
Barenboim, A., & Maharshak, N. (2025) · Inflammatory Bowel Diseases · doi:10.1093/ibd/izaf091
A Seven-Gene Signature for the Diagnosis of Parkinson’s Disease and Immune Infiltration Analysis
Wei, C., Xue, R., Gao, Z., Zhu, H., & Xu, X. (2025) · Twin Research and Human Genetics · doi:10.1017/thg.2025.10008
Eslick, G. D. (2025) · Springer eBooks · doi:10.1007/978-1-4614-6625-3_91-1
An Elevated Birth Prevalence of Fraser Syndrome in Quebec Linked To A Founder Pathogenic VariantPreprint
Gagnon, G., Pelletier, J., Ashton‐Beaucage, D., Dekhordi, M. S., Chapdelaine, V., Delrue, M., Karalis, A., Taliun, D., Rioux, J. D., Campeau, P. M., et al. (2025) · medRxiv · doi:10.1101/2025.10.30.25336922
Kars, M. E., Wu, Y., Stenson, P. D., Cooper, D. N., Burisch, J., Peter, I., & Itan, Y. (2024) · Figshare · doi:10.6084/m9.figshare.25815101
Kars, M. E., Wu, Y., Stenson, P. D., Cooper, D. N., Burisch, J., Peter, I., & Itan, Y. (2024) · Figshare · doi:10.6084/m9.figshare.25815588
Roles of Intestinal Epithelial Glycans in Maintaining Gut Homeostasis
Okumura, R. (2025) · Trends in Glycoscience and Glycotechnology · doi:10.4052/tigg.2427.1j
Roles of Intestinal Epithelial Glycans in Maintaining Gut Homeostasis
Okumura, R. (2025) · Trends in Glycoscience and Glycotechnology · doi:10.4052/tigg.2427.1e
Tao, L., SHI, S., Zhu, R., Liu, Z. H., Yang, B., Liu, L., Chen, W., Long, Q., Jiao, N., Zhang, G., et al. (2026) · Database · doi:10.1093/database/baag038
- Authors
- Rivas, M. A., Avila, B. E., Koskela, J., Huang, H., Stevens, C., Pirinen, M., Haritunians, T., Neale, B. M., Kurki, M., Ganna, A., Graham, D., Glaser, B., Peter, I., Atzmon, G., Barzilai, N., Levine, A. P., Schiff, E., Pontikos, N., Weisburd, B., Lek, M., Karczewski, K. J., Bloom, J., Minikel, E. V., Petersen, B.-S., Beaugerie, L., Seksik, P., Cosnes, J., Schreiber, S., Bokemeyer, B., Bethge, J., International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-GENES Consortium, Heap, G., Ahmad, T., Plagnol, V., Segal, A. W., Targan, S., Turner, D., Saavalainen, P., Farkkila, M., Kontula, K., Palotie, A., Brant, S. R., Duerr, R. H., Silverberg, M. S., Rioux, J. D., Weersma, R. K., Franke, A., Jostins, L., Anderson, C. A., Barrett, J. C., MacArthur, D. G., Jalas, C., Sokol, H., Xavier, R. J., Pulver, A., Cho, J. H., McGovern, D. P. B., & Daly, M. J.
- Affiliations
- Broad Institute (US)
- University of Helsinki (FI)
- Cedars-Sinai Medical Center (US)
- Icahn School of Medicine at Mount Sinai (US)
- Albert Einstein College of Medicine (US)
- University College London (GB)
- Christian-Albrechts-Universität zu Kiel (DE)
- Assistance Publique – Hôpitaux de Paris (FR)
- University Hospital Schleswig-Holstein (DE)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Peninsula College of Medicine and Dentistry (GB)
- Hebrew University of Jerusalem (IL)
- Johns Hopkins University (US)
- University of Pittsburgh (US)
- Mount Sinai Hospital (CA)
- Montreal Heart Institute (CA)
- University Medical Center Groningen (NL)
- Centre for Human Genetics (GB)
- Wellcome Sanger Institute (GB)
- Corresponding author
- Rivas, Manuel A.
- Cho, Judy H.
- McGovern, Dermot P. B.
- Daly, Mark J.
- ORCID
- Rivas, Manuel A.
- Avila, Brandon E.
- Koskela, Jukka
- Huang, Hailiang
- Stevens, Christine
- Pirinen, Matti
- Haritunians, Talin
- Neale, Benjamin M.
- Kurki, Mitja
- Ganna, Andrea
- Graham, Daniel
- Peter, Inga
- Atzmon, Gil
- Barzilai, Nir
- Levine, Adam P.
- Schiff, Elena
- Pontikos, Nikolas
- Weisburd, Ben
- Lek, Monkol
- Karczewski, Konrad J.
- Minikel, Eric V.
- Beaugerie, Laurent
- Seksik, Philippe
- Cosnes, Jacques
- Schreiber, Stefan
- Bokemeyer, Bernd
- Heap, Graham
- Ahmad, Tariq
- Plagnol, Vincent
- Segal, Anthony W.
- Targan, Stephan
- Turner, Dan
- Kontula, Kimmo
- Palotie, Aarno
- Brant, Steven R.
- Duerr, Richard H.
- Silverberg, Mark S.
- Rioux, John D.
- Weersma, Rinse K.
- Anderson, Carl A.
- Barrett, Jeffrey C.
- MacArthur, Daniel G.
- Jalas, Chaim
- Sokol, Harry
- Xavier, Ramnik J.
- Cho, Judy H.
- McGovern, Dermot P. B.
- Daly, Mark J.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2018-05-24
- Volume
- 14
- Issue
- 5
- Pages
- e1007329
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC5967709
- OpenAlex
- W2524585766
- Cited by
- 87
- References
- 59
- Citations by year
- 2026: 2 · 2025: 11 · 2024: 8 · 2023: 8 · 2022: 11 · 2021: 13 · 2020: 10 · 2019: 15 · 2018: 7 · 2017: 2
- FWCI
- 6.90
- Type
- journal article
- Language
- en
- Update notices
- correction (2019-05-30)
- Open access
- gold
- doi.org
- Licence
- Locations
- PLoS Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (publishedVersion, cc-by)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- Discovery Research Portal (University of Dundee) (submittedVersion, cc-by)
- Työväentutkimus Vuosikirja (submittedVersion)
- PuSH - Publication Server of Helmholtz Zentrum München (submittedVersion, cc-by)
- Rutgers University Community Repository (Rutgers University) (submittedVersion)
- ScholarWorks @ UTRGV (The University of Texas Rio Grande Valley) (submittedVersion, cc-by)
- HAL (submittedVersion)
- Digital Access to Libraries (submittedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- UCL Discovery (University College London) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- Figshare (submittedVersion, cc-by)
- Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion, cc-by)
- Minerva Access (University of Melbourne) (submittedVersion, cc-by)
- Site cant be reached (submittedVersion, cc-by)
- Royal Devon and Exeter Research Repository (Royal Devon and Exeter) (submittedVersion, cc-by)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion, cc-by)
- Funders
- Leona M. and Harry B. Helmsley Charitable Trust (2015PG-IBD001)
- Kennedy Trust for Rheumatology Research (KENN151613)
- National Institute for Health and Care Research (CL-2018-21-501)
- National Institutes of Health (5r01dk092235-06)
- National Human Genome Research Institute (U54HG003067)
- National Institute of Diabetes and Digestive and Kidney Diseases (K01DK114379, P01DK046763, P30DK089502, R01-DK092235, R01DK097485, U01DK062420, U24DK062429, U01DK062422, U01DK062432, P30DK043351, U01DK062431, U01DK062423)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Inflammatory Bowel Disease
- Keywords
- Crohn's disease, Ashkenazi Jews, founder effect, rare variants, exome sequencing, NOD2, LRRK2, genetic risk factors, Gaucher disease, Tay-Sachs disease, Canavan disease, population genetic differences, genetic epidemiology, allele frequency databases
- MeSH terms
- Algorithms, Crohn Disease, Genetics, Population, Haplotypes, Humans, Jews, Models, Genetic, Molecular Epidemiology, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Rare Diseases, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
