Integration of genome-wide association study and expression quantitative trait locus mapping for identification of endometriosis-associated genes.

ABSTRACT: To determine whether genetic predisposition to endometriosis varies depending on ethnicity and in association with expression quantitative trait loci (eQTL) in a Taiwanese population. We conducted a genome-wide association study (GWAS) and replicated it in 259 individuals with laparoscopy-confirmed stage III or IV endometriosis (cases) and 171 women without endometriosis (controls). Their genomic DNA was extracted from blood and evaluated by the GWAS of Taiwan Biobank Array. Novel genetic variants that predispose individuals to endometriosis were identified using GWAS and replication, including rs10739199 (P = 6.75 × 10^-5) and rs2025392 (P = 8.01 × 10^-5) at chromosome 9, rs1998998 (P = 6.5 × 10^-6) at chromosome 14, and rs6576560 (P = 9.7 × 10^-6)

SUBMITTER: Chou YC 

PROVIDER: S-EPMC7803948 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature