Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item.
When enough users have cast their vote on this item, the average rating will also be shown.
Your vote was cast
Thank you for your feedback
Thank you for your feedback
Morris, Andrew P
De Vivo, Immaculata
Buring, Julie E
Edwards, Todd L
Rexrode, Kathryn M
Ridker, Paul M
Schork, Andrew J
Martin, Nicholas G
Becker, Christian M
Geirsson, Reynir T
Wallace, Leanne M
Velez Edwards, Digna R
Zondervan, Krina T
Missmer, Stacey A
Montgomery, Grant W
Chasman, Daniel I
Tung, Joyce Y
Nyholt, Dale R
MetadataShow full item record
CitationMeta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. 2017, 8:15539 Nat Commun
AbstractEndometriosis is a heritable hormone-dependent gynecological disorder, associated with severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely unknown. Here we perform a meta-analysis of 11 genome-wide association case-control data sets, totalling 17,045 endometriosis cases and 191,596 controls. In addition to replicating previously reported loci, we identify five novel loci significantly associated with endometriosis risk (P<5 × 10(-8)), implicating genes involved in sex steroid hormone pathways (FN1, CCDC170, ESR1, SYNE1 and FSHB). Conditional analysis identified five secondary association signals, including two at the ESR1 locus, resulting in 19 independent single nucleotide polymorphisms (SNPs) robustly associated with endometriosis, which together explain up to 5.19% of variance in endometriosis. These results highlight novel variants in or near specific genes with important roles in sex steroid hormone signalling and function, and offer unique opportunities for more targeted functional research efforts.
DescriptionTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files
RightsArchived with thanks to Nature communications
- Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis.
- Authors: Uimari O, Rahmioglu N, Nyholt DR, Vincent K, Missmer SA, Becker C, Morris AP, Montgomery GW, Zondervan KT
- Issue date: 2017 Apr 1
- Genetic variation in the sex hormone metabolic pathway and endometriosis risk: an evaluation of candidate genes.
- Authors: Trabert B, Schwartz SM, Peters U, De Roos AJ, Chen C, Scholes D, Holt VL
- Issue date: 2011 Dec
- New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study.
- Authors: Sobalska-Kwapis M, Smolarz B, Słomka M, Szaflik T, Kępka E, Kulig B, Siewierska-Górska A, Polak G, Romanowicz H, Strapagiel D, Szyłło K
- Issue date: 2017 Oct
- Replication and meta-analysis of previous genome-wide association studies confirm vezatin as the locus with the strongest evidence for association with endometriosis.
- Authors: Pagliardini L, Gentilini D, Sanchez AM, Candiani M, Viganò P, Di Blasio AM
- Issue date: 2015 Apr
- Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets.
- Authors: Rahmioglu N, Nyholt DR, Morris AP, Missmer SA, Montgomery GW, Zondervan KT
- Issue date: 2014 Sep-Oct