Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.

ABSTRACT: Rare and low frequency variants are not well covered in most germline genotyping arrays and are understudied in relation to epithelial ovarian cancer (EOC) risk. To address this gap, we used genotyping arrays targeting rarer protein-coding variation in 8,165 EOC cases and 11,619 controls from the international Ovarian Cancer Association Consortium (OCAC). Pooled association analyses were conducted at the variant and gene level for 98,543 variants directly genotyped through two exome genotyping projects. Only common variants that represent or are in strong linkage disequilibrium (LD) with previously-identified signals at established loci reached traditional thresholds for exome-wide significance (P < 5.0 × 10 ^{-  7}). One of the most significant signals (P_{all histol}

SUBMITTER: Permuth JB 

PROVIDER: S-EPMC5179948 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature