Evidence for Association of the rs17822931-A Allele in ABCC11 with a Decreased Risk of Estrogen Receptor-negative Breast Cancer

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The rs17822931 SNP of the human ABCC11 gene determines earwax types, and is also associated with some functions of apocrine glands, including the mammary gland. Nevertheless, whether the ABCC11 polymorphism is correlated with estrogen receptor (ER) status of breast cancer (BC) remains unclear. To investigate the correlation between rs17822931 and BC, we screened the genotypes in a total of 276 and 295 histological BC samples collected from Japanese and Ukrainian BC patients, and 269 and 264 ethnically-matched healthy individuals, respectively, using TaqManTM PCR. Genotype frequencies at rs178229131 in Japanese and Ukrainian BC patients were not significantly different from those in their respective control populations. Consistently, no correlation between rs178229131 and the susceptibility to BC was found. The AA genotype, which corresponds to dry earwax, occurred less frequently in ER -negative BC in Japanese [odds ratio, 0.48; 95% confidential interval, 0.29-0.80] but not in Ukrainian patients although a similar correlation was weakly observed. Our results indicate that the rs178229131-A allele may be important in reducing the risk of ER -negative BC development.