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Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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  • Yadav Sapkota
  • Immaculata De Vivo
  • Valgerdur Steinthorsdottir
  • Amelie Fassbender
  • Lisa Bowdler
  • Julie E Buring
  • Todd L Edwards
  • Sarah Jones
  • Dorien O
  • Daniëlle Peterse
  • Kathryn M Rexrode
  • Paul M Ridker
  • Andrew J Schork
  • Gudmar Thorleifsson
  • Leanne M Wallace
  • Peter Kraft
  • Andrew P Morris
  • Dale R Nyholt
  • Digna R Velez Edwards
  • Mette Nyegaard
  • Thomas D'Hooghe
  • Daniel I Chasman
  • Kari Stefansson
  • Stacey A Missmer
  • Grant W Montgomery
  • iPSYCH-SSI-Broad Group
  • Thomas Mears Werge (Medlem af forfattergruppering)
Vis graf over relationer

Genome-wide association (GWA) studies have identified 19 independent common risk loci for endometriosis. Most of the GWA variants are non-coding and the genes responsible for the association signals have not been identified. Herein, we aimed to assess the potential role of protein-modifying variants in endometriosis using exome-array genotyping in 7164 cases and 21005 controls, and a replication set of 1840 cases and 129016 controls of European ancestry. Results in the discovery sample identified significant evidence for association with coding variants in single-variant (rs1801232-CUBN) and gene-level (CIITA and PARP4) meta-analyses, but these did not survive replication. In the combined analysis, there was genome-wide significant evidence for rs13394619 (P = 2.3 × 10-9) in GREB1 at 2p25.1 - a locus previously identified in a GWA meta-analysis of European and Japanese samples. Despite sufficient power, our results did not identify any protein-modifying variants (MAF > 0.01) with moderate or large effect sizes in endometriosis, although these variants may exist in non-European populations or in high-risk families. The results suggest continued discovery efforts should focus on genotyping large numbers of surgically-confirmed endometriosis cases and controls, and/or sequencing high-risk families to identify novel rare variants to provide greater insights into the molecular pathogenesis of the disease.

OriginalsprogEngelsk
TidsskriftScientific Reports
Vol/bind7
Udgave nummer1
Sider (fra-til)11380
ISSN2045-2322
DOI
StatusUdgivet - 12 sep. 2017

ID: 52694764