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Association of five single nucleotide polymorphisms at 6q25.1 with breast cancer risk in northwestern China.

ABSTRACT: CCDC170 and ESR1, located at 6q25.1, were associated with breast cancer (BC) risk by genome-wide association studies. Our goal was to validate the association between CCDC170-ESR1 polymorphisms and BC risk in the population of northwestern China. A case-control study of 551 patients with BC and 577 control individuals was conducted from January 2011 to November 2014. We analyzed five BC-associated single nucleotide polymorphisms (SNPs) identified in CCDC170-ESR1 by previous studies. Logistic regression models were used to derive odds ratios (ORs) and 95% confidence intervals after adjusting for body mass index and age. The minor alleles of rs3757318, rs3734805, and rs2046210 were associated with increased BC risk (OR = 1.30, p = 0.005; OR = 1.28, p = 0.006; OR = 1.20, p = 0.033, respectively) in an allelic model analysis. Those three SNPs had a coincident significant association with increased BC risk in genetic models and stratification analyses. A new haplotype, "CT", was associated with a 1.31-fold increased risk of BC (OR = 1.31, p = 0.006). The "C" allele of rs9383951 was associated with a reduced risk of BC (OR = 0.69, p = 0.048) in estrogen receptor-positive individuals under the log-additive model. Our data provide new evidence of the association between CCDC170-ESR1 and BC susceptibility in the population of northwestern China.

SUBMITTER: Zhou L

PROVIDER: S-EPMC4568782 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Association of five single nucleotide polymorphisms at 6q25.1 with breast cancer risk in northwestern China.

Zhou Long L He Na N Feng Tian T Geng Tingting T Jin Tianbo T Chen Chao C

American journal of cancer research 20150715 8

CCDC170 and ESR1, located at 6q25.1, were associated with breast cancer (BC) risk by genome-wide association studies. Our goal was to validate the association between CCDC170-ESR1 polymorphisms and BC risk in the population of northwestern China. A case-control study of 551 patients with BC and 577 control individuals was conducted from January 2011 to November 2014. We analyzed five BC-associated single nucleotide polymorphisms (SNPs) identified in CCDC170-ESR1 by previous studies. Logistic reg ...[more]

PMID: 26396922

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Project description:ObjectiveThe purpose of the present study was to evaluate the associations between seven tagging single nucleotide polymorphisms (tSNPs) and risk of breast cancer assessed by tumor pathological characteristics and body mass index (BMI).MethodsSeven tSNPs of four breast cancer susceptibility genes were analyzed in 734 Chinese women with breast cancer and 672 age-matched healthy controls; then, the association with clinicopathological characteristics, BMI, molecular subtype, TNM (T, tumor; N, lymph node; M, metastasis) staging and lymph node status was determined by unconditional logistic regression.ResultsRs12951053 in TP53 and rs16945628 in BRIP1, displayed increased risk of breast cancer in the BMI ≧ 25 kg/m2 group (OR=1.50, 95% CI: 1.02-2.21, P=0.041 and OR=1.92, 95% CI: 1.13-3.26, P=0.015, respectively). The other five tSNPs (rs1805812, rs2735385 and rs6999227 in NBS1, rs7220719 in BRIP1 and rs2299941 in PTEN) displayed a decreased risk of breast cancer in the 18.5≤BMI<25 kg/m2 group. Rs12951053 in TP53 and rs7220719 in BRIP1 exhibited an increased risk of triple-negative breast cancer (OR=1.50, 95% CI: 1.05-2.15, P=0.026 and OR=2.13, 95% CI: 1.05-4.29, P=0.032, respectively), but three tSNPs in NBS1 (rs1805812, rs2735385 and rs6999227) all displayed a negative association with both luminal B and triple-negative breast cancer. The tSNP rs2299941 in PTEN also exhibited a negative association with each molecular subtype, except triple-negative breast cancer. The majority of tSNPs displayed a negative association with stage II or III breast cancer. Most tSNPs showed a negative association with breast cancer that was lymph node negative or with 1-3 positive nodes. Only rs12951053 in TP53 displayed a positive association with lymph node-negative breast cancer (OR=1.43, 95% CI: 1.08-1.91, P=0.013).ConclusionThe majority of tSNPs displayed a negative association with breast cancer and only a few tSNPs (rs12951053 in TP53, rs16945628 and rs7220719 in BRIP1) showed an increased risk of breast cancer as defined by clinicopathological characteristics.

Dataset Information

Association of five single nucleotide polymorphisms at 6q25.1 with breast cancer risk in northwestern China.

Publications

Association of five single nucleotide polymorphisms at 6q25.1 with breast cancer risk in northwestern China.

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