Dataset Information

Distribution and susceptibility of ERCC1/XPF gene polymorphisms in Han and Uygur women with breast cancer in Xinjiang, China.

ABSTRACT: This study aimed to explore the roles of ERCC1/XPF gene polymorphisms in the occurrence of breast cancer in the Uygur and Han ethnic groups in Xinjiang, China. Single nucleotide polymorphisms (SNPs) were detected by TaqMan real-time PCR. The rs11615 G>A and rs2276466 C>G variant frequencies were higher in Uygur patients with breast cancer than in Han patients, while the frequency of rs2298881 C>A was higher in Han patients. We found that rs2298881 C>A (CA vs. CC: OR = 0.35, 95% CI = 0.20-0.60; AA vs. CC: OR = 0.13, 95% CI = 0.04-0.34; CA + AA vs. CC: OR = 0.33, 95% CI = 0.18-0.51; AA vs. CA + CC: OR = 0.24, 95% CI = 0.08-0.62; CA vs. AA + CC: OR = 0.49, 95% CI = 0.29-0.82) was associated with a reduced breast cancer risk and rs3212986 C>A (AA vs. CC: OR = 4.80, 95% CI = 1.79-15.29,; CA+AA vs. CC: OR = 1.71, 95% CI = 1.06-2.77; AA vs. CA+CC: OR = 4.12, 95% CI =1.58-12.89) and rs11615 G > A (AA vs. GG: OR = 3.49, 95% CI =1.54-8.55; GA + AA vs. GG: OR = 1.98, 95% CI = 1.21-3.27; AA vs. GA+GG: OR = 2.87, 95% CI = 1.30-6.85) were associated with an elevated breast cancer risk among Uygur individuals. In addition, Uygur patients with breast cancer with 2-3 combined risk genotypes of ERCC1 had a higher risk than patients with 0-1 risk genotypes (OR = 2.91; 95% CI = 1.54-5.71, p = 0.001). However, we failed to detect a statistically significant association between ERCC1/XPF polymorphisms and breast cancer risk in five genetic models among Han individuals. Our results showed that ERCC1/XPF gene polymorphisms predispose Uygur individuals to breast cancer; this finding should be verified by further large-scale analyses.

SUBMITTER: Li H

PROVIDER: S-EPMC7774751 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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Distribution and susceptibility of ERCC1/XPF gene polymorphisms in Han and Uygur women with breast cancer in Xinjiang, China.

Li Hongtao H Zhou Linghui L Ma Jing J Zhu Yuyao Y Fan Jingjing J Li Na N Zheng Yi Y Sha Tong T Zhai Zhen Z Ma Binlin B Dai Zhijun Z

Cancer medicine 20201016 24

This study aimed to explore the roles of ERCC1/XPF gene polymorphisms in the occurrence of breast cancer in the Uygur and Han ethnic groups in Xinjiang, China. Single nucleotide polymorphisms (SNPs) were detected by TaqMan real-time PCR. The rs11615 G>A and rs2276466 C>G variant frequencies were higher in Uygur patients with breast cancer than in Han patients, while the frequency of rs2298881 C>A was higher in Han patients. We found that rs2298881 C>A (CA vs. CC: OR = 0.35, 95% CI = 0.20-0.60; A ...[more]

PMID: 33067872

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Project description:BackgroundThe association of genetic polymorphisms of klotho gene with aging has not been thoroughly examined. Previous studies showed that longevity in the Uygurs was considerably greater than in Kazaks in Xinjiang. This study aimed to investigate the difference of renal function and Klotho gene polymorphisms between Kazak and Uygur normal populations in Xinjiang, China.Material/methodsA total of 249 Uygur and 386 Kazak clinically normal subjects were included in this study. Four single-nucleotide polymorphisms (rs1207568, rs564481, rs9527025, and rs9536314) of the klotho gene were genotyped using the ABI SNaPshot method. Estimated glomerular filtration rate (eGFR) was calculated according to the Chinese simplified MDRD equation.ResultsThere were significant differences between Kazak and Uygur healthy populations in both allele frequencies and genotype distributions in rs9527025 and rs9536314 (P<0.05, respectively). When the subjects were divided into 2 groups according to the genotypes of the klotho gene polymorphism, in the GA+AA genotype distributions of the rs1207568, the differences I serum creatinine and estimated glomerular filtration rate between the Kazak and Uygur groups were statistically significant (P<0.05, respectively). In CC genotype of rs564481, serum creatinine was significantly higher in Kazaks compared with Uygurs (P<0.05). In GG genotype of rs9527025, serum creatinine was significantly higher in the Kazak group compared with the Uygur group (P<0.05), as well as in CG+CC genotype of rs9527025 (P<0.05). Serum creatinine was significantly higher in the Kazak group compared with the Uygur group in TT genotype of rs9536314 (P<0.05), as was GT+GG genotype of rs9536314. Haplotype analysis indicated that the frequencies of ACGT, GTGT, and GCCG haplotypes were significantly different between Kazak and Uygur healthy populations (P=0.04, P=0.018, P=0.000, respectively).ConclusionsSignificant differences in klotho gene rs9527025 and rs9536314 polymorphisms were found between the Uygur and Kazak populations.

Project description:The morbidity of coronary artery disease (CAD) in the Uygur population of Xinjiang was much higher than the national average. Clopidogrel is the most commonly used medication worldwide in dual antiplatelet therapy for CAD, and the response of clopidogrel is affected by CYP2C19, PON1, and ABCB1 genetic polymorphisms. The distribution of CYP2C19*17, ABCB1, and PON1 genetic polymorphisms in Han and Uygur populations with CAD of Xinjiang has not been investigated.This study aimed to investigate the frequencies of CYP2C19, PON1, and ABCB1 genetic polymorphisms, and to identify the metabolizer phenotype of CYP2C19 in Han and Uygur populations with CAD in Northwestern Xinjiang, China. We identified 602 Han and 527 Uygur patients from 2014 through 2019 and studied genotypes for selected allele polymorphisms using sequencing by hybridization.There were significantly different allele frequencies and genotype frequencies between the 2 ethnic groups in terms of CYP2C19*2, *3, *17, ABCB1 and PON1, (P < .05). For CYP2C19*17, the frequency of TT genotype was 2.5% in Uygur patients, but it was undetectable in Han patients. In both the intermediate and poor metabolizer groups, the genotypes polymorphisms CYP2C19*2, *3, *17 were significantly less common in Uygur patients than in Han patients (P < .001). By contrast, the proportion of ultra-metabolizers as defined by CYP2C19*2, *3, *17 polymorphisms significantly higher in Uygur patients (18.6%) than in Han patients (1.7%, P < .001). The CYP2C19*2 frequency was significantly different between Han patients and Han healthy groups (P < .001), while the CYP2C19*3 frequency was significantly different between Uygur patients and Uygur healthy groups (P < .001).Our study supports the notion of interethnic differences in terms of CYP2C19, PON1, and ABCB1 polymorphisms and CYP2C19 genotype-defined clopidogrel metabolic groups. These finding could provide valuable data and insights into personalized CAD treatment for the Uygur and Han populations in Xinjiang.

Dataset Information

Distribution and susceptibility of ERCC1/XPF gene polymorphisms in Han and Uygur women with breast cancer in Xinjiang, China.

Publications

Distribution and susceptibility of ERCC1/XPF gene polymorphisms in Han and Uygur women with breast cancer in Xinjiang, China.

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