Fine-scale mapping of chromosome 9q22.33 identifies candidate causal variant in ovarian cancer.

ABSTRACT: Ovarian cancer is a complex polygenic disease in which genetic factors play a significant role in disease etiology. A genome-wide association study (GWAS) identified a novel variant on chromosome 9q22.33 as a susceptibility locus for epithelial ovarian cancer (EOC) in the Han Chinese population. However, the underlying mechanism of this genomic region remained unknown. In this study, we conducted a fine-mapping analysis of 130 kb regions, including 1,039 variants in 200 healthy women. Ten variants were selected to evaluate the association with EOC risk in 1,099 EOC cases and 1,591 controls. We identified two variants that were significantly associated with ovarian cancer risk (rs7027650, P = 1.91 × 10^-7; rs1889268, P = 3.71 × 10^-2). Expression quantitati

SUBMITTER: Xing T 

PROVIDER: S-EPMC10874173 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature