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Association of a single nucleotide polymorphism at 6q25.1,rs2046210, with endometrial cancer risk among Chinese women.

ABSTRACT: A recent genome-wide association study identified a new susceptibility locus for breast cancer, rs2046210, which is a single nucleotide polymorphism (SNP) located upstream of the estrogen receptor α(ESR1) gene on chromosome 6q25.1. Given that endometrial cancer shares many risk factors with breast cancer and both are related to estrogen exposure and that rs2046210 is in close proximity to the ESR1 gene, we evaluated the association of SNP rs2046210 with endometrial cancer risk among 953 cases and 947 controls in a population-based, case-control study conducted in Shanghai, China. Logistic regression models were used to derive odds ratios (ORs) and 95% confidence intervals (95% CIs) after adjusting for potential confounders. We found that the A allele of rs2046210, linked to an increased risk of breast cancer, was associated with increased but not statistically significant risk of endometrial cancer (OR = 1.16, 95% CI = 0.96-1.41 for the GA and AA genotypes compared with the GG genotype); the association was stronger among post-menopausal women (OR = 1.28, 95% CI = 1.00-1.65). The association tended to be stronger among women with higher or longer estrogen exposure than among women with relatively lower or shorter exposure to estrogen. Our study suggests that rs2046210 may play a role in the etiology of endometrial cancer. Additional studies are needed to confirm our findings.

SUBMITTER: Li G

PROVIDER: S-EPMC3842219 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Breast cancer is one of the most widespread malignancies in females, and the incidence rate has been increasing in recent years in the world. Genetic factors play an important role in the occurrence of breast cancer. Our study aimed to investigate the relationship between single nucleotide polymorphisms (SNPs) of claudin 10 (CLDN10) (rs1325774, rs7333503, rs3751334) and breast cancer and the clinical characteristics of patients.A total of 104 patients with breast cancer and 118 healthy controls were recruited in our study between 2013 and 2015. The SNPscan system was used for genotyping. Demographic information, health status, anthropometric parameters and clinical data were considered in analysis. Statistical analysis of the data was carried out using the Student t test, the Chi-square test (X2) or Fisher exact test and unconditional logistic regression analysis. The Gene Expression Profiling Interactive Analyses application (GEPIA) was used to analysis the expression of CLDN10 in breast cancer tissues and normal samples.The polymorphism of rs1325774 was significantly associated with an increased risk of breast cancer (T/G vs T/T: OR = 2.073, 95% CI = 1.095-3.927, P = .025). After adjusting for age, the association remained statically significant (T/G vs T/T: OR = 2.067, 95% CI = 1.070-3.867, P = .026). Furthermore, harbouring G allele in rs1325774 position was significantly associated with increased risk of breast cancer (OR = 1.993, 95% CI = 1.107-3.589, P = .022). However, no significant association among rs7333503, rs3751334, and breast cancer. The expression level of CLDN10 was reduced in breast cancer tissues compared with normal breast tissues according to the analysis of The Cancer Genome Atlas (TCGA) data through GEPIA.Our results suggest that the polymorphism of rs1325774 associate with increase the breast cancer risk. No significant relationship between rs1325774 polymorphism and clinical as well as pathological characteristics in patients.

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Association of a single nucleotide polymorphism at 6q25.1,rs2046210, with endometrial cancer risk among Chinese women.

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