Journal article
Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339
JE Powell, JN Fung, K Shakhbazov, Y Sapkota, N Cloonan, G Hemani, KM Hillman, S Kaufmann, HT Luong, L Bowdler, JN Painter, SJ Holdsworth-Carson, PM Visscher, ME Dinger, M Healey, DR Nyholt, JD French, SL Edwards, PAW Rogers, GW Montgomery
Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2016
DOI: 10.1093/hmg/ddw320
Abstract
Genome-wide association studies (GWAS) have identified markers within the WNT4 region on chromosome 1p36.12 showing consistent and strong association with increasing endometriosis risk. Fine mapping using sequence and imputed genotype data has revealed strong candidates for the causal SNPs within these critical regions; however, the molecular pathogenesis of these SNPs is currently unknown. We used gene expression data collected from whole blood from 862 individuals and endometrial tissue from 136 individuals from independent populations of European descent to examine the mechanism underlying endometriosis susceptibility. Association mapping results from 7,090 individuals (2,594 cases and 4,..
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Awarded by Wellcome Trust
Funding Acknowledgements
This study supported by the Wellcome Trust (WT084766/Z/08/Z). Research reported in this publication was supported by the National Health and Medical Research Council (NHMRC) project grants GNT1026033, GNT1049472, GNT1046880, GNT1050208, GNT1083405, and GNT1010374 and QIMR Berghofer seed funding grant. GWM, JEP and PMV are supported by NHMRC Fellowships (GNT1078399, GNT1107599 and GNT1078037). NC is supported by an Australian Research Council Future Fellowship (FT120100453).