The DOI matches its Crossref record; 30 of the 30 references it cites were found in a registry or an index.
Genome-Wide Association Study Link Novel Loci to Endometriosis
Open accessAbstract
Endometriosis is a common gynecological condition with complex etiology defined by the presence of endometrial glands and stroma outside the womb. Endometriosis is a common cause of both cyclic and chronic pelvic pain, reduced fertility, and reduced quality-of-life. Diagnosis and treatment of endometriosis is, on average, delayed by 7-10 years from the onset of symptoms. Absence of a timely and non-invasive diagnostic tool is presently the greatest barrier to the identification and treatment of endometriosis. Twin and family studies have documented an increased relative risk in families. To identify genetic factors that contribute to endometriosis we conducted a two-stage genome-wide association study (GWAS) of a European cohort including 2,019 surgically confirmed endometriosis cases and 14,471 controls. Three of the SNPs we identify associated at P<5×10(-8) in our combined analysis belong to two loci: LINC00339-WNT4 on 1p36.12 (rs2235529; P = 8.65×10(-9), OR = 1.29, CI = 1.18-1.40) and RND3-RBM43 on 2q23.3 (rs1519761; P = 4.70×10(-8), OR = 1.20, Cl = 1.13-1.29, and rs6757804; P = 4.05×10(-8), OR = 1.20, Cl = 1.13-1.29). Using an adjusted Bonferoni significance threshold of 4.51×10(-7) we identify two additional loci in our meta-analysis that associate with endometriosis:, RNF144B-ID4 on 6p22.3 (rs6907340; P = 2.19×10(-7), OR = 1.20, Cl = 1.12-1.28), and HNRNPA3P1-LOC100130539 on 10q11.21 (rs10508881; P = 4.08×10(-7), OR = 1.19, Cl = 1.11-1.27). Consistent with previously suggested associations to WNT4 our study implicate a 150 kb region around WNT4 that also include LINC00339 and CDC42. A univariate analysis of documented infertility, age at menarche, and family history did not show allelic association with these SNP markers. Clinical data from patients in our study reveal an average delay in diagnosis of 8.4 years and confirm a strong correlation between endometriosis severity and infertility (n = 1182, P<0.001, OR = 2.18). This GWAS of endometriosis was conducted with high diagnostic certainty in cases, and with stringent handling of population substructure. Our findings broaden the understanding of the genetic factors that play a role in endometriosis.
Overview
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
Verification
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?
In the citing paper
“Three of the single nucleotide polymorphisms (SNPs) associated with the disease have been identified: LINC00339-WNT4 at locus 1p36.12 (rs2235529) and RND3-RBM43 at locus 2q23.3 (rs1519761 and rs6757804).”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [188]
In the citing paper
“The meta-analysis identified two additional loci that were associated with endometriosis: RNF144B-ID4 at 6p22.3 (rs6907340) and HNRNPA3P1-LOC100130539at 10q11.21 (rs10508881).”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [188]
In the citing paper
“Genome-wide association (GWA) studies have identified 11 independent single-nucleotide polymorphisms (SNPs) for endometriosis.”
From Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism (2017) · cites this paper as [6]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
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
Principal components analysis corrects for stratification in genome-wide association studies
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248
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
A note on a general definition of the coefficient of determination
NAGELKERKE, N. J. D. (1991) · Biometrika · doi:10.1093/biomet/78.3.691 · Cited by 5,927
Howie, B. N., Donnelly, P., & Marchini, J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000529 · Cited by 3,928
Giudice, L. C., & Kao, L. C. (2004) · The Lancet · doi:10.1016/s0140-6736(04)17403-5 · Cited by 3,166
Revised American Society for Reproductive Medicine classification of endometriosis: 1996
American Society for Reproductive Medicine (1997) · Fertility and Sterility · doi:10.1016/s0015-0282(97)81391-x · Cited by 3,018
Genetics in geographically structured populations: defining, estimating and interpreting FST
Holsinger, K. E., & Weir, B. S. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2611 · Cited by 1,480
Ballard, K., Lowton, K., & Wright, J. (2006) · Fertility and Sterility · doi:10.1016/j.fertnstert.2006.04.054 · Cited by 628
Arruda, M. S. (2003) · Human Reproduction · doi:10.1093/humrep/deg136 · Cited by 373
Genetic influences on endometriosis in an Australian twin sample
Treloar, S. A., O’Connor, D. T., O’Connor, V. M., & Martin, N. G. (1999) · Fertility and Sterility · doi:10.1016/s0015-0282(98)00540-8 · Cited by 353
Genome-wide association meta-analysis identifies new endometriosis risk loci
Nyholt, D. R., Low, S.-K., Anderson, C. A., Painter, J. N., Uno, S., Morris, A. P., MacGregor, S., Gordon, S. D., Henders, A. K., Martin, N. G., et al. (2012) · Nature Genetics · doi:10.1038/ng.2445 · Cited by 315
Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis
Painter, J. N., Anderson, C. A., Nyholt, D. R., Macgregor, S., Lin, J., Lee, S. H., Lambert, A., Zhao, Z. Z., Roseman, F., Guo, Q., et al. (2011) · Nature Genetics · doi:10.1038/ng.731 · Cited by 308
Diagnostic delay in women with pain and endometriosis
Husby, G. K., Haugen, R. S., & Moen, M. H. (2003) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1034/j.1600-0412.2003.00168.x · Cited by 307
Nelson, M. R., Bryc, K., King, K. S., Indap, A., Boyko, A. R., Novembre, J., Briley, L. P., Maruyama, Y., Waterworth, D. M., Waeber, G., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.08.005 · Cited by 293
Franco, H. L., Dai, D., Lee, K. Y., Rubel, C. A., Roop, D. R., Boerboom, D., Jeong, J., Lydon, J. P., Bagchi, I. C., Bagchi, M. K., et al. (2010) · The FASEB Journal · doi:10.1096/fj.10-175349 · Cited by 273
Uno, S., Zembutsu, H., Hirasawa, A., Takahashi, A., Kubo, M., Akahane, T., Aoki, D., Kamatani, N., Hirata, K., & Nakamura, Y. (2010) · Nature Genetics · doi:10.1038/ng.612 · Cited by 259
Genetic factors contribute to the risk of developing endometriosis
Stefansson, H., Geirsson, R. T., Steinthorsdottir, V., Jonsson, H., Manolescu, A., Kong, A., Ingadottir, G., Gulcher, J., & Stefansson, K. (2002) · Human Reproduction · doi:10.1093/humrep/17.3.555 · Cited by 228
The search for genes contributing to endometriosis risk
Montgomery, G. W., Nyholt, D. R., Zhao, Z. Z., Treloar, S. A., Painter, J. N., Missmer, S. A., Kennedy, S. H., & Zondervan, K. T. (2008) · Human Reproduction Update · doi:10.1093/humupd/dmn016 · Cited by 211
Treloar, S. A., Wicks, J., Nyholt, D. R., Montgomery, G. W., Bahlo, M., Smith, V. E., Dawson, G., Mackay, I., Weeks, D. E., Bennett, S. T., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/432960 · Cited by 195
Endometriosis in monozygotic twins
Hadfield, R. M., Mardon, H. J., Barlow, D. H., & Kennedy, S. H. (1997) · Fertility and Sterility · doi:10.1016/s0015-0282(97)00359-2 · Cited by 166
Signorile, P. G., Baldi, F., Bussani, R., D'Armiento, M., De Falco, M., & Baldi, A. (2009) · Journal of Experimental & Clinical Cancer Research · doi:10.1186/1756-9966-28-49 · Cited by 118
Endometriosis in monozygotic twins
Moen, M. H. (1994) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.3109/00016349409013396 · Cited by 114
Serum and peritoneal interleukin-33 levels are elevated in deeply infiltrating endometriosis
Santulli, P., Borghese, B., Chouzenoux, S., Vaiman, D., Borderie, D., Streuli, I., Goffinet, F., de Ziegler, D., Weill, B. J., Batteux, F., et al. (2012) · Human Reproduction · doi:10.1093/humrep/des154 · Cited by 103
A polymorphism in a let‐7 microRNA binding site of KRAS in women with endometriosis
Grechukhina, O., Petracco, R., Popkhadze, S., Massasa, E., Paranjape, T., Chan, E., Flores, I., Weidhaas, J. B., & Taylor, H. S. (2012) · EMBO Molecular Medicine · doi:10.1002/emmm.201100200 · Cited by 96
Insights into assessing the genetics of endometriosis
Rahmioglu, N., Missmer, S. A., Montgomery, G. W., & Zondervan, K. T. (2012) · Current Obstetrics and Gynecology Reports · doi:10.1007/s13669-012-0016-5 · Cited by 71
Genetics and Genomics of Endometriosis
Hansen, K. A., & Eyster, K. M. (2010) · Clinical Obstetrics & Gynecology · doi:10.1097/grf.0b013e3181db7ca1 · Cited by 68
Hu, W.-P., Tay, S. K., & Zhao, Y. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1594 · Cited by 57
Goteri, G., Ciavattini, A., Lucarini, G., Montik, N., Filosa, A., Stramazzotti, D., Biagini, G., & Tranquilli, A. L. (2006) · Fertility and Sterility · doi:10.1016/j.fertnstert.2006.01.031 · Cited by 21
Luong, H. T., Nyholt, D. R., Painter, J. N., Chapman, B. M., Kennedy, S., Treloar, S. A., Zondervan, K. T., & Montgomery, G. W. (2012) · Human Reproduction · doi:10.1093/humrep/des329 · Cited by 12
Flagged first, then by citations
Cited by
Sorted by citations
Zondervan, K. T., Becker, C. M., Koga, K., Missmer, S. A., Taylor, R. N., & Viganò, P. (2018) · Nature Reviews Disease Primers · doi:10.1038/s41572-018-0008-5 · Cited by 1,257
Smolarz, B., Szyłło, K., & Romanowicz, H. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms221910554 · Cited by 560
Theories on the pathogenesis of endometriosis
Sourial, S., Tempest, N., & Hapangama, D. K. (2014) · International Journal of Reproductive Medicine · doi:10.1155/2014/179515 · Cited by 418
Suda, K., Nakaoka, H., Yoshihara, K., Ishiguro, T., Tamura, R., Mori, Y., Yamawaki, K., Adachi, S., Takahashi, T., Kase, H., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.07.037 · Cited by 414
Genetic Associations with Gestational Duration and Spontaneous Preterm Birth
Zhang, G., Feenstra, B., Bačelis, J., Liu, X., Muglia, L. M., Juodakis, J., Miller, D. E., Litterman, N. K., Jiang, P., Russell, L. E., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1612665 · Cited by 385
Metadata
- Authors
- Albertsen, H. M., Chettier, R., Farrington, P., & Ward, K.
- Corresponding author
- Ward, Kenneth
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2013-03-05
- Volume
- 8
- Issue
- 3
- Pages
- e58257
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC3589333
- OpenAlex
- W2051994829
- Cited by
- 161
- References
- 30
- Citations by year
- 2026: 2 · 2025: 9 · 2024: 7 · 2023: 9 · 2022: 7 · 2021: 14 · 2020: 9 · 2019: 13 · 2018: 18 · 2017: 17 · 2016: 20 · 2015: 16 · 2014: 9 · 2013: 11
- FWCI
- 22.54
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS ONE (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Agricultural and Biological Sciences › Ecology, Evolution, Behavior and Systematics › Plant and fungal interactions
- Keywords
- endometriosis, genetic susceptibility, genetic loci, single nucleotide polymorphisms, endometriosis diagnosis
- MeSH terms
- Adult, Algorithms, Alleles, Endometriosis, Female, Genotype, Humans, Software, Reproducibility of Results, Cohort Studies, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Principal Component Analysis, Genome-Wide Association Study, Young Adult
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
