Association of Genome-Wide Association Study (GWAS) Identified SNPs and Risk of Breast Cancer in an Indian Population
نویسندگان
چکیده
To date, no studies have investigated the association of the GWAS-identified SNPs with BC risk in Indian population. We investigated the association of 30 previously reported and replicated BC susceptibility SNPs in 1,204 cases and 1,212 controls from a hospital based case-control study conducted at the Tata Memorial Hospital, Mumbai. As a measure of total susceptibility burden, the polygenic risk score (PRS) for each individual was defined by the weighted sum of genotypes from 21 independent SNPs with weights derived from previously published estimates of association odds-ratios. Logistic regression models were used to assess risk associated with individual SNPs and overall PRS, and stratified by menopausal and receptor status. A total of 11 SNPs from eight genomic regions (FGFR2, 9q31.2, MAP3K, CCND1, ZM1Z1, RAD51L11, ESR1 and UST) showed statistically significant (p-value ≤ 0.05) evidence of association, either overall or when stratified by menopausal status or hormone receptor status. BC SNPs previously identified in Caucasian population showed evidence of replication in the Indian population mainly with respect to risk of postmenopausal and hormone receptor positive BC.
منابع مشابه
GWAS markers in diagnostics of breast cancer risk
Breast cancer belongs to the most common malignancy diagnosed in women. The major inherited susceptibilities to breast cancer are germline mutations in mutations in high risk genes, eg. BRCA1, BRCA2, BRIP, PALB2, RAD51C, RAD51D (5-10%), mutations in moderate risk genes, eg. CHEK2, ATM, NBS1 (10-20%) which however, explain only a small number of breast cancer cases. The latter are alterations in...
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