Article
Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339.
Human molecular genetics - 15 Nov 2016
Powell Joseph E, Fung Jenny N, Shakhbazov Konstantin, Sapkota Yadav, Cloonan Nicole, Hemani Gibran, Hillman Kristine M, Kaufmann Susanne, Luong Hien T, Bowdler Lisa, Painter Jodie N, Holdsworth-Carson Sarah J, Visscher Peter M, Dinger Marcel E, Healey Martin, Nyholt Dale R, French Juliet D, Edwards Stacey L, Rogers Peter A W, Montgomery Grant W
Abstract excerpt
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...
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