Independent Replication and Meta-Analysis for Endometriosis Risk Loci

Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies
Yadav SapkotaT M D'Hooghe

Abstract

Endometriosis is a complex disease that affects 6-10% of women in their reproductive years and 20-50% of women with infertility. Genome-wide and candidate-gene association studies for endometriosis have identified 10 independent risk loci, and of these, nine (rs7521902, rs13394619, rs4141819, rs6542095, rs1519761, rs7739264, rs12700667, rs1537377, and rs10859871) are polymorphic in European populations. Here we investigate the replication of nine SNP loci in 998 laparoscopically and histologically confirmed endometriosis cases and 783 disease-free controls from Belgium. SNPs rs7521902, rs13394619, and rs6542095 show nominally significant (p < .05) associations with endometriosis, while the directions of effect for seven SNPs are consistent with the original reports. Association of rs6542095 at the IL1A locus with 'All' (p = .066) and 'Grade_B' (p = .01) endometriosis is noteworthy because this is the first successful replication in an independent population. Meta-analysis with the published results yields genome-wide significant evidence for rs7521902, rs13394619, rs6542095, rs12700667, rs7739264, and rs1537377. Notably, three coding variants in GREB1 (near rs13394619) and CDKN2B-AS1 (near rs1537377) also showed nominally signi...Continue Reading

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Citations

Mar 24, 2016·Human Reproduction·Sarah J Holdsworth-CarsonPeter A W Rogers
Oct 19, 2016·Clinical Genetics·B BorgheseD Vaiman
Apr 28, 2017·Nature Communications·Zhiqiang LiYongyong Shi
May 4, 2017·Nature Reviews. Urology·Camran NezhatLouise P King
May 23, 2019·Molecular Medicine Reports·Charoula MatalliotakiMaria I Zervou
Apr 17, 2019·Experimental and Therapeutic Medicine·Loukia VassilopoulouGeorge N Goulielmos
Aug 30, 2018·International Journal of Molecular Sciences·Meng ChengRamakrishna Kommagani
Jun 19, 2020·Healthcare·Antonio Sanchez-FernandezMaría Pedrera-Canal
Apr 27, 2018·Human Reproduction Update·Kavita PanirM Louise Hull
Nov 7, 2020·International Journal of Molecular Sciences·Beata SmolarzHanna Romanowicz
Jul 3, 2021·Cells·Teresa Mira Gruber, Sylvia Mechsner
Jul 25, 2021·International Journal of Molecular Sciences·Imane LalamiDaniel Vaiman

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