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Parental origin of sequence variants associated with complex diseases
Open accessAbstract
Effects of susceptibility variants may depend on from which parent they are inherited. Although many associations between sequence variants and human traits have been discovered through genome-wide associations, the impact of parental origin has largely been ignored. Here we show that for 38,167 Icelanders genotyped using single nucleotide polymorphism (SNP) chips, the parental origin of most alleles can be determined. For this we used a combination of genealogy and long-range phasing. We then focused on SNPs that associate with diseases and are within 500 kilobases of known imprinted genes. Seven independent SNP associations were examined. Five-one with breast cancer, one with basal-cell carcinoma and three with type 2 diabetes-have parental-origin-specific associations. These variants are located in two genomic regions, 11p15 and 7q32, each harbouring a cluster of imprinted genes. Furthermore, we observed a novel association between the SNP rs2334499 at 11p15 and type 2 diabetes. Here the allele that confers risk when paternally inherited is protective when maternally transmitted. We identified a differentially methylated CTCF-binding site at 11p15 and demonstrated correlation of rs2334499 with decreased methylation of that site.
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“It is now widely believed that many genetic and epigenetic factors are likely to contribute to common complex diseases, including multiple rare SNVs (defined by convention as those that have frequencies < 1%), copy number variations (CNVs), and other forms of structural variation. 3–12”
From Statistical analysis strategies for association studies involving rare variants (2010) · cites this paper as [6]
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Hofmeister, R. J., Rubinacci, S., Ribeiro, D. M., Buil, A., Kutalik, Z., & Delaneau, O. (2022) · Nature Communications · doi:10.1038/s41467-022-34383-6 · Cited by 42
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“, 9 were excluded as they were in linkage disequilibrium with other SNPs that we included in the GRS (rs6795735, rs10440833, rs1920792, rs4430796, rs757110, rs1387153, rs13081389, rs12255372 and rs4760790), 2 were excluded due to sex-specific associations in GWAS (rs11063069 and rs8108269) [5], 1 due to imprinting (rs…”
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Dhawan, S., & Natarajan, R. D. (2019) · Current Diabetes Reports · doi:10.1007/s11892-019-1168-8 · Cited by 46
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MethodMAP1B mutations cause intellectual disability and extensive white matter deficit
Walters, G. B., Gústafsson, Ó., Sveinbjörnsson, G., Eiriksdottir, V. K., Agustsdottir, A. B., Jónsdóttir, G. A., Steinberg, S., Gunnarsson, A. F., Magnusson, M. I., Unnsteinsdóttir, U., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-05595-6 · Cited by 43
Self-citationGenome-Wide Association Scan Allowing for Epistasis in Type 2 Diabetes
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Feng, R., Wu, Y., Jang, G. H., Ordovás, J. M., & Arnett, D. K. (2011) · PLoS ONE · doi:10.1371/journal.pone.0028909 · Cited by 40
“[7], at a locus at 11p15 associated with type 2 diabetes, the same allele can confer risk if paternally inherited and decrease risk if maternally transmitted, providing solid evidence for the parent-of-origin effect with sequence technique.”
BackgroundCharacterizing Vaccine Responses Using Host Genomic and Transcriptomic Analysis
O’Connor, D., & Pollard, A. J. (2013) · Clinical Infectious Diseases · doi:10.1093/cid/cit373 · Cited by 40
“dependent than would be expected by the transmission of stable DNA sequence, which has led to speculation that heritable epigenetic modifications may also be important [38].”
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Lyssenko, V., Groop, L., & Prasad, R. B. (2015) · The Review of Diabetic Studies · doi:10.1900/rds.2015.12.233 · Cited by 41
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Self-citationFrom Genetic Association to Molecular Mechanisms for Islet-cell Dysfunction in Type 2 Diabetes
Mattis, K. K., & Gloyn, A. L. (2020) · Journal of Molecular Biology · doi:10.1016/j.jmb.2019.12.045 · Cited by 39
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“Thus, the effect of an allele depends on its parental origin resulting in phenotypic differences between reciprocal heterozygotes (parent-of-origin effects) [12,13].”
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“loss of imprinting) can result in serious physiological impairments (such as those associated with Angleman syndrome and Beckwith-Wiedemann syndrome in humans), lethality and susceptibility to diseases such as cancer [7-9].”
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Thomsen, S. K., & Gloyn, A. L. (2014) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2014.05.001 · Cited by 38
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“This study uses genotypic information as a causal anchor to help decipher the likely role of DNAmethylationmeasured in peripheral blood in the etiology of type 2 diabetes.”
BackgroundInfluentialType 2 diabetes risk gene Dusp8 regulates hypothalamic Jnk signaling and insulin sensitivity
Schriever, S. C., Kabra, D. G., Pfuhlmann, K., Baumann, P., Baumgart, E. V., Nagler, J., Seebacher, F., Harrison, L. P., Irmler, M., Kullmann, S., et al. (2020) · Journal of Clinical Investigation · doi:10.1172/jci136363 · Cited by 38
“Metyrapone treatment was further sufficient to normalize gene expression of key genes involved in T2D pathophysiology and multiple glucocorticoid target genes (Supplemental Figure 5, A–”
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Chambers, E. V., Bickmore, W. A., & Semple, C. A. M. (2013) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1003017 · Cited by 36
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“…of human phenotypes have also implicated imprinted gene effects in many biomedical conditions including BWS, Prader-Willi and Angelman syndromes, Alzheimer’s disease, cancer and type II diabetes (Bassett et al., 2002; Kong et al., 2009; Bird, 2014; Chaudhry et al., 2014; Eggermann et al., 2014).”
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Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin
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Evidence for Linkage and Association of GABRB3 and GABRA5 to Panic Disorder
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“First, multipoint LOD-transformed NPL scores were computed, measuring identity-by-descent allele-sharing among affected family members, using GENEHUNTER (Kruglyak et al, 1996).”
MethodProgress in defining the genetic contribution to type 2 diabetes susceptibility
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Polymorphisms in KCNQ1 Are Associated with Gestational Diabetes in a Korean Population
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Genome‐wide association studies (GWAS): impact on elucidating the aetiology of diabetes
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“A genetic variant near the gene encoding insulin receptor substrate-1 (IRS1) [24] and three parentalorigin-specific associations [75] have also been recently strongly implicated in T2D.”
BackgroundWhy and How Imprinted Genes Drive Fetal Programming
Crespi, B. J. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00940 · Cited by 33
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“Nevertheless, apart from a number of candidate gene-led studies [55–57], there have been limited numbers of common variants linked to imprinted genes, and GWAS studies do not appear to indicate imprinted genes are any more likely to be associated with these major neuropsychiatric disorders than any other gene within t…”
A role for coding functional variants in HNF4A in type 2 diabetes susceptibility
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“To date, ~40 such variants have been identified, largely through genome-wide association studies (GWAS) [1–8].”
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MethodSelf-citationBehavioral Genetics and Animal Science
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Is polycystic ovary syndrome a sexual conflict? A review
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“Even if lifestyle certainly affects the individual metabolic features (Ekblom et al., 2015), together with epigenetic causes (Kong et al., 2009; Smith and Ryckman, 2015), the genetic background strongly contributes to the development of metabolic syndrome (Aguilar et al., 2015), suggesting a…”
BackgroundIntegrating Epigenomics into the Understanding of Biomedical Insight
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“And how epigenetic factors influence the complex diseases 4–6 ?”
BackgroundThe search for the genetic contribution to autoimmune thyroid disease: the never ending story?
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“However, a recently identified variant in KCNQ1 on chromosome 11p15 has been shown to either confer or reduce risk to type 2 diabetes depending on whether the allele is inherited paternally or maternally, respectively [53].”
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“Studies that implemented parent-of-origin in their models are increasingly identifying a significant contribution of parental effects to different traits such as cancer [46], diabetes [46, 47], body mass index (BMI) [48] and pubertal timing [49].”
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BackgroundParent-of-origin effects on complex traits in up to 236,781 individuals
Hofmeister, R. J., Cavinato, T., Karimi, R., van der Graaf, A., Pajuste, F., Kronberg, J., Taba, N., Metspalu, A., Esko, T., Nelis, M., et al. (2025) · Nature · doi:10.1038/s41586-025-09357-5 · Cited by 35
“…expressed KLF14 gene, was in high linkage disequilibrium ( r 2 > 0.9) with previously reported maternal-effects variant on TG and HDL-C (rs12154627) 5 , and on type 2 diabetes (T2D) (rs4731702) 7 , all of which showed moderate Article association with our lead POE variant (Supplementary Note 6.2).”
InfluentialKarlsson, R., Andreassen, K. E., Kristiansen, W., Aschim, E. L., Bremnes, R. M., Dahl, O., Fosså, S. D., Klepp, O., Langberg, C. W., Solberg, A., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt188 · Cited by 27
How Can Genetic Studies Help Us to Understand Links Between Birth Weight and Type 2 Diabetes?
Beaumont, R. N., Horikoshi, M., McCarthy, M. I., & Freathy, R. M. (2017) · Current Diabetes Reports · doi:10.1007/s11892-017-0852-9 · Cited by 27
Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland
Björnsson, E., Þorgeirsson, G., Helgadóttir, A., Þorleifsson, G., Sveinbjörnsson, G., Kristmundsdóttir, S., Jónsson, H., Jónasdóttir, A., Jónasdóttir, Á., Sigurðsson, Á., et al. (2021) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.120.315904 · Cited by 27
Self-citationGenome-wide association studies for detecting cancer susceptibility
Hosking, F. J., Dobbins, S. E., & Houlston, R. S. (2011) · British Medical Bulletin · doi:10.1093/bmb/ldq038 · Cited by 26
Genetics of type 2 diabetes and potential clinical implications
Kwak, S. H., & Park, K. S. (2013) · Archives of Pharmacal Research · doi:10.1007/s12272-013-0021-x · Cited by 26
Finer, S., Holland, M. L., Nanty, L., & Rakyan, V. K. (2010) · Environmental and Molecular Mutagenesis · doi:10.1002/em.20590 · Cited by 29
Sex-specific differences in effect size estimates at established complex trait loci
Orozco, G., Ioannidis, J. P. A., Morris, A. P., & Zeggini, E. (2012) · International Journal of Epidemiology · doi:10.1093/ije/dys104 · Cited by 25
Insulin Resistance and Metabolic Hepatocarcinogenesis with Parent-of-Origin Effects in A×B Mice
Hines, I. N., Hartwell, H. J., Feng, Y., Theve, E. J., Hall, G. A., Hashway, S. A., Connolly, J., Fecteau, M., Fox, J. G., & Rogers, A. B. (2011) · American Journal Of Pathology · doi:10.1016/j.ajpath.2011.08.014 · Cited by 26
“These findings take on direct translational significance in light of a recent study from Iceland showing that parent-specific somatic polymorphisms strongly influence T2D risk in humans.(33)”
BackgroundLópez‐Abad, M., Iglesias‐Platas, I., & Monk, D. (2016) · Frontiers in Genetics · doi:10.3389/fgene.2016.00062 · Cited by 26
Christodoulou, M., Avgeris, M., Kokkinopoulou, I., Maratou, E., Mitrou, P., Kontos, C. K., Pappas, E., Boutati, E. I., Scorilas, A., & Fragoulis, E. G. (2019) · Scientific Reports · doi:10.1038/s41598-018-37856-1 · Cited by 26
Connolly, S., & Heron, E. A. (2014) · Briefings in Bioinformatics · doi:10.1093/bib/bbu017 · Cited by 26
The role of Krüppel-like factor 14 in the pathogenesis of atherosclerosis
Xie, W., Li, L., Zheng, X., Yin, W., & Tang, C. (2017) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2017.06.011 · Cited by 25
Translating genomics into improved healthcare
Hingorani, A. D., Shah, T., Meena Kumari, B., Sofat, R., & Smeeth, L. L. (2010) · BMJ · doi:10.1136/bmj.c5945 · Cited by 24
Petry, C. J., Koulman, A., Lu, L., Jenkins, B., Furse, S., Prentice, P. M., Matthews, L., Hughes, I. A., Acerini, C. L., Ong, K. K., et al. (2018) · Reproductive Biology and Endocrinology · doi:10.1186/s12958-018-0399-x · Cited by 24
Huan, T., Mendelson, M., Joehanes, R., Yao, C., Liu, C., Song, C., Bhattacharya, A., Rong, J., Tanrıverdi, K., Keefe, J. A., et al. (2019) · Epigenetics · doi:10.1080/15592294.2019.1640547 · Cited by 23
“Prior studies identified paternally inherited SNPs in association with human complex traits [46], e.”
BackgroundRapid haplotype inference for nuclear families
Williams, A. L., Housman, D. E., Rinard, M., & Gifford, D. K. (2010) · Genome biology · doi:10.1186/gb-2010-11-10-r108 · Cited by 24
“Haplotypes are essential for many important genetic applications, including: (1) imputation of genotypes at loci that were originally untyped in a set of samples [1-5], a technique that can uncover novel disease susceptibility loci when incorporated into a genome-wide association study; (2) studying the results of mei…”
BackgroundThe Genetic Architecture of Diabetes in Pregnancy: Implications for Clinical Practice
Kleinberger, J. W., Maloney, K. A., & Pollin, T. I. (2016) · American Journal of Perinatology · doi:10.1055/s-0036-1592078 · Cited by 24
CTCF, Cohesin, and Chromatin in Human Cancer
Song, S., & Kim, T. (2017) · Genomics & Informatics · doi:10.5808/gi.2017.15.4.114 · Cited by 28
“Unsurprisingly, single-nucleotide polymorphisms also confer disease susceptibility in humans by decreasing the methylation level at differentially methylated CTCF-binding sites such as rs2334499 in the 11p15 region [54].”
BackgroundJian, X., & Felsenfeld, G. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1803146115 · Cited by 24
“The major peak of interaction in HeLa is with a locus that contains the T2D risk variant rs2334499 (26); the risk allele is correlated with decreased DNA methylation.”
BackgroundThe impact of cis-acting polymorphisms on the human phenotype
Jones, B. L., & Swallow, D. M. (2011) · The HUGO Journal · doi:10.1007/s11568-011-9155-4 · Cited by 25
Raghavan, S., Porneala, B., McKeown, N. M., Fox, C. S., Dupuis, J., & Meigs, J. B. (2015) · Diabetologia · doi:10.1007/s00125-015-3498-7 · Cited by 23
“It is notable that prior work has demonstrated a differential effect of maternal and paternal diabetes on offspring diabetes risk, suggesting that there may be parent-of-origin effects influencing genetic and epigenetic effects in diabetes [32].”
van de Bunt, M., Lako, M., Barrett, A., Gloyn, A. L., Hansson, M. D., McCarthy, M. I., Beer, N. L., & Honoré, C. (2016) · Islets · doi:10.1080/19382014.2016.1182276 · Cited by 23
Chromatin and heritability: how epigenetic studies can complement genetic approaches
Birney, E. (2011) · Trends in Genetics · doi:10.1016/j.tig.2011.02.005 · Cited by 21
Szabó, M. I., Máté, B., Csép, K., & Benedek, T. (2017) · Biochemical Genetics · doi:10.1007/s10528-017-9827-4 · Cited by 23
Cuéllar-Partida, G., Laurin, C., Ring, S. M., Gaunt, T. R., McRae, A. F., Visscher, P. M., Montgomery, G. W., Martin, N. G., Hemani, G., Suderman, M. J., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy206 · Cited by 22
“(16) found that rs231362 showed a parent of origin specific association with T2D.”
BackgroundMiranda‐Lora, A. L., Molina‐Díaz, M., Cruz, M., Sánchez‐Urbina, R., Martínez‐Rodríguez, N., López-Martı́nez, B., & Klünder‐Klünder, M. (2019) · Pediatric Diabetes · doi:10.1111/pedi.12818 · Cited by 22
“Some susceptibility variants for T2D may depend on the parent from whom they are inherited.(38) According to experts, the identification of the variants inherited from a specific parent contributes to finding missing heritability, because these variants are more difficult to discover, and their contribution would be u…”
BackgroundParent-of-origin effects propagate through networks to shape metabolic traits
Macias-Velasco, J. F., Pierre, C. L. S., Wayhart, J. P., Yin, L., Spears, L., Miranda, M. A., Carson, C., Funai, K., Cheverud, J. M., Semenkovich, C. F., et al. (2022) · eLife · doi:10.7554/elife.72989 · Cited by 24
“Both variants have maternally restricted cisregulatory associations with KLF14 expression in adipose tissue (Kong et al., 2009).”
BackgroundEtiology of familial breast cancer with undetected BRCA1 and BRCA2 mutations: clinical implications
Yiannakopoulou, E. C. (2013) · Cellular Oncology · doi:10.1007/s13402-013-0158-0 · Cited by 22
“This paternal model of inheritance involving men with prostate cancer and women with breast cancer is further supported by other studies [79] that revealed an (imprinted) region on chromosome 11p15 with a paternal inheritance associated with breast cancer; (ii) copy number variation of a gene beneficial for cancer dev…”
ResultComplex Genetics of Type 2 Diabetes and Effect Size: What have We Learned from Isolated Populations?
Nair, A. K., & Baier, L. J. (2015) · The Review of Diabetic Studies · doi:10.1900/rds.2015.12.299 · Cited by 21
“If the same variant occurs in different populations, the allele frequency may differ, as has been documented for TCF7L2 and KCNQ1 [27, 62].”
BackgroundResultInfluentialGenomic imprinting: A missing piece of the Multiple Sclerosis puzzle?
Ruhrmann, S., Stridh, P., Kular, L., & Jagodic, M. (2015) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2015.05.010 · Cited by 22
“Kong and colleagues used an elegant approach that exploited the detailed family history information, using the extensive pedigree records available in Icelanders, and long-range haplotypes phasing to determine the parent-of-origin of alleles (Kong et al., 2009).”
Björnsson, E., Helgason, H., Halldorsson, G. H., Helgadóttir, A., Gylfason, A., Kehr, B., Jónasdóttir, A., Jónasdóttir, Á., Sigurðsson, Á., Oddsson, Á., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx123 · Cited by 21
Self-citationMikaelsdottir, E., Þorleifsson, G., Stefánsdóttir, L., Halldorsson, G. H., Sigurdsson, J. K., Lund, S. H., Tragante, V., Melsted, P., Rögnvaldsson, S., Norland, K., et al. (2021) · Communications Biology · doi:10.1038/s42003-021-02642-9 · Cited by 20
Self-citationLubberding, A. F., Juhl, C. R., Skovhøj, E. Z., Kanters, J. K., Mandrup-Poulsen, T. R., & Torekov, S. S. (2022) · Acta Physiologica · doi:10.1111/apha.13781 · Cited by 21
Parent-of-Origin Effects of the APOB Gene on Adiposity in Young Adults
Hochner, H., Allard, C., Granot‐Hershkovitz, E., Chen, J., Sitlani, C. M., Sazdovska, S., Lumley, T., McKnight, B., Rice, K. M., Enquobahrie, D. A., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005573 · Cited by 23
“This is similar to the approach applied in the Icelandic study in the sense that published GWAS findings were used for targeting variants of interest for POE analysis [18].”
BackgroundMethodInfluentialChromatin structure, epigenetic mechanisms and long‐range interactions in the human insulin locus
Xu, Z., Lefevre, G. M., & Felsenfeld, G. (2012) · Diabetes Obesity and Metabolism · doi:10.1111/j.1463-1326.2012.01645.x · Cited by 21
“It is of particular interest that two major T2D susceptibility loci on chromosome 11 lie within regions that physically interact with the INS promoter in human islets [62,63].”
Excess maternal transmission of variants in the THADA gene to offspring with type 2 diabetes
Prasad, R. B., Lessmark, A., Almgren, P., Kovács, G., Hansson, O., Oskolkov, N., Vitai, M., Ladenvall, C., Kovacs, P. L., Fadista, J., et al. (2016) · Diabetologia · doi:10.1007/s00125-016-3973-9 · Cited by 22
“Consistent with the findings of previous studies [14, 15] the risk allele showed a maternal transmission to affected offspring.”
ResultParent-of-origin effects on quantitative phenotypes in a large Hutterite pedigree
Mozaffari, S. V., DeCara, J. M., Shah, S. J., Sidore, C., Fiorillo, E., Cucca, F., Lang, R. M., Nicolae, D. L., & Ober, C. (2019) · Communications Biology · doi:10.1038/s42003-018-0267-4 · Cited by 22
Prendergast, J. G. D., Tong, P., Hay, D. C., Farrington, S. M., & Semple, C. A. M. (2012) · Epigenetics & Chromatin · doi:10.1186/1756-8935-5-6 · Cited by 20
“been associated with bone-mineral density in GWAS [33], suggesting that taking into account the parent of origin of alleles at this locus might increase the strength of the observed associations [18].”
Background
Metadata
- Authors
- DIAGRAM Consortium, Kong, A., Steinthorsdottir, V., Masson, G., Thorleifsson, G., Sulem, P., Besenbacher, S., Jonasdottir, A., Sigurdsson, A., Kristinsson, K. T., Jonasdottir, A., Frigge, M. L., Gylfason, A., Olason, P. I., Gudjonsson, S. A., Sverrisson, S., Stacey, S. N., Sigurgeirsson, B., Benediktsdottir, K. R., Sigurdsson, H., Jonsson, T., Benediktsson, R., Olafsson, J. H., Johannsson, O. T., Hreidarsson, A. B., Sigurdsson, G., Ferguson-Smith, A. C., Gudbjartsson, D. F., Thorsteinsdottir, U., & Stefansson, K.
- Affiliations
- deCODE Genetics (Iceland) (IS)
- National University Hospital of Iceland (IS)
- Corresponding author
- Kong, Augustine
- ORCID
- Venue
- Nature
- Published
- 2009-12
- Volume
- 462
- Issue
- 7275
- Pages
- 868-874
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3746295
- OpenAlex
- W2156431476
- Cited by
- 553
- References
- 23
- Citations by year
- 2026: 3 · 2025: 12 · 2024: 16 · 2023: 8 · 2022: 18 · 2021: 24 · 2020: 24 · 2019: 22 · 2018: 28 · 2017: 32 · 2016: 32 · 2015: 55 · 2014: 43 · 2013: 57 · 2012: 49
- FWCI
- 34.22
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Site cant be reached (submittedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Open Research (University of Surrey) (submittedVersion)
- Hirsla (Landspítali University Hospital) (submittedVersion, other-oa)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Wellcome Trust (077016, 090532)
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK029867)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (K08AR055688)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Keywords
- parental origin, genomic imprinting, imprinted genes, genetic variants, type 2 diabetes, breast cancer, basal cell carcinoma, 11p15, CTCF binding sites, DNA methylation, genealogy, TCF7L2, complex diseases
- MeSH terms
- CCCTC-Binding Factor, Alleles, Binding Sites, Breast Neoplasms, Basal Cell Carcinoma, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 7, Diabetes Mellitus, Type 2, Fathers, Female, Haplotypes, Humans, Iceland, Male, Mothers, Pedigree, Repressor Proteins, Genome, Human, Genomic Imprinting, DNA Methylation, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
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