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Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.

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Authors
Sapkota, Yadav
Steinthorsdottir, Valgerdur
Morris, Andrew P
Fassbender, Amelie
Rahmioglu, Nilufer
De Vivo, Immaculata
Buring, Julie E
Zhang, Futao
Edwards, Todd L
Jones, Sarah
O, Dorien
Peterse, Daniëlle
Rexrode, Kathryn M
Ridker, Paul M
Schork, Andrew J
MacGregor, Stuart
Martin, Nicholas G
Becker, Christian M
Adachi, Sosuke
Yoshihara, Kosuke
Enomoto, Takayuki
Takahashi, Atsushi
Kamatani, Yoichiro
Matsuda, Koichi
Kubo, Michiaki
Thorleifsson, Gudmar
Geirsson, Reynir T
Thorsteinsdottir, Unnur
Wallace, Leanne M
Yang, Jian
Velez Edwards, Digna R
Nyegaard, Mette
Low, Siew-Kee
Zondervan, Krina T
Missmer, Stacey A
D'Hooghe, Thomas
Montgomery, Grant W
Chasman, Daniel I
Stefansson, Kari
Tung, Joyce Y
Nyholt, Dale R
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Issue Date
2017-05-24

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Citation
Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. 2017, 8:15539 Nat Commun
Abstract
Endometriosis 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.
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https://www.nature.com/articles/ncomms15539.pdf
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Archived with thanks to Nature communications
ae974a485f413a2113503eed53cd6c53
10.1038/ncomms15539
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English Journal Articles (Peer Reviewed)

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