Role of Polymorphisms of FAM13A, PHLDB1, and CYP24A1 in Breast Cancer Risk

Background: Single-nucleotide polymorphisms (SNPs) are important indicators of susceptibility to breast cancer. Objective: To assess the associations between SNPs in the FAM13A, PHLDB1, and CYP24A1 gene and breast cancer risk in the Chinese Han population. Methods: We performed a case-control study including 379 female breast cancer patients and 407 female healthy controls. The three SNPs were genotyped using Agena MassARRAY platform. The χ2 test was used to compare alleles and genotypes frequencies of polymorphisms between case and control groups. Genetic models analyses to assess the associations between SNPs and breast cancer risk by computing odds ratios (ORs) and 95% confidence intervals (CIs) using logistic regression. RegulomeDB and HaploReg databases were used to calculate possible functional effects of polymorphisms. Results: Overall analysis results showed that rs4809957 was associated with an increased risk of breast cancer (allele A: OR = 1.27, 95% CI: 1.03-1.55, p = 0.024; AA vs. GG: OR = 1.80, 95% CI: 1.15–2.82, p = 0.010; recessive model: OR = 1.70, 95% CI: 1.12–2.58, p = 0.012); and rs1059122 was found to be associated with a reduced breast cancer risk in the recessive model (OR = 0.71, 95% CI: 0.51–0.98, p = 0.039). Stratification analysis found significant associations between the three SNPs (rs1059122, rs17748, and rs4809957) and breast cancer risk. Conclusion: Our results suggested that rs1059122 (FAM13A), rs17748 (PHLDB1), and rs4809957 (CYP24A1) might contribute to breast cancer susceptibility in the Chinese Han population. Future studies with large samples are required to confirm our findings, as well as functional studies are needed to explore their function in the breast cancer development.

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Lack of Association between rs2067474 Polymorphism in Histamine Receptor H2Gene and Breast Cancer in Chinese Han Population

The Scientific World JOURNAL ◽

10.1155/2015/545292 ◽

2015 ◽

Vol 2015 ◽

pp. 1-6 ◽

Cited By ~ 4

Author(s):

Wen-Ke Cai ◽

Jia-Bin Zhang ◽

Niu-Min Wang ◽

Ying-Lin Wang ◽

Can-Hu Zhao ◽

...

Keyword(s):

Breast Cancer ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Cancer Patients ◽

Chinese Han Population ◽

Clinicopathological Parameters ◽

Breast Cancer Patients ◽

Chinese Han ◽

Enhancer Element ◽

Han Population

Histamine H2receptor (HRH2) was previously suggested to affect the proliferation of breast cancer cells and disease-free survival of breast cancer patients. Furthermore, a common polymorphism, rs2067474, was identified in an enhancer element of theHRH2gene promoter and was reported to be associated with various diseases including cancer. However, the relationship between this polymorphism and breast cancer risk and malignant degree remains unclear. The aim of this study was to clarify the clinical association of rs2067474 polymorphism with breast cancer. A total of 201 unrelated Chinese Han breast cancer patients and 238 ethnicity-matched health controls were recruited and rs2067474 polymorphism was genotyped. Logistic regression analyses were performed to calculate the odds ratios (ORs) as a measure of association of genotype with breast cancer according to 3 genetic models (dominant, recessive, and additive). Although the percentage of hormone receptor negative cases tended to be higher in AA genotypes, we did not find any significant associations of rs2067474 polymorphism with breast cancer risk or with related clinicopathological parameters in the present study, which indicates that rs2067474 polymorphism ofHRH2gene might not be a risk factor in the development of breast cancer in Chinese Han population.

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Impact of Interaction Between PPAR Alpha and PPAR Gamma on Breast Cancer Risk in the Chinese Han Population

Clinical Breast Cancer ◽

10.1016/j.clbc.2016.10.003 ◽

2017 ◽

Vol 17 (5) ◽

pp. 336-340 ◽

Cited By ~ 6

Author(s):

Xiong Lianggeng ◽

Liang Baiwu ◽

Bai Maoshu ◽

Liu Jiming ◽

Li Youshan

Keyword(s):

Breast Cancer ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Ppar Gamma ◽

Chinese Han Population ◽

Chinese Han ◽

Ppar Alpha ◽

Han Population

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Associations between polymorphisms at microRNA-binding sites in TYMS and breast cancer risk among Chinese women

10.21203/rs.2.22720/v1 ◽

2020 ◽

Author(s):

Meng Wang ◽

Jia Yao ◽

Yi Zheng ◽

Yuyao Yao ◽

Shuqian Wang ◽

...

Keyword(s):

Breast Cancer ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Chinese Women ◽

Microarray Dataset ◽

Tumor Stage ◽

Recessive Model ◽

Breast Cancer Patients ◽

Chinese Han ◽

Expression Levels

Abstract Studies have suggested that thymidylate (TYMS) polymorphisms are associated with breast cancer. However, inconsistent results were obtained and data from Asian populations are largely lacking. In this study, the relationships between two common TYMS polymorphisms (rs2790 and rs1059394) and the breast cancer risk were evaluated. We also studied the TYMS expression between tumor and para-carcinoma tissues, and the association between TYMS levels and prognosis of breast cancer. This hospital-based study included 434 patients and 450 cancer-free individuals. Genotying was performed using Sequenom Mass-ARRAY. The microarray dataset GSE115144 was downloaded to compare the differences in TYMS expression between tumor and para-carcinoma tissues. The microarray dataset GSE20685 was used to analysis the metastasis free survival (MFS) and overall survival (OS) of patients. The rs2790 polymorphism was related to a higher risk of breast cancer (recessive model: OR=1.50, 95%CI=1.02-2.21, P=0.038) and the C allele of rs1059394 was overrepresented in patients with tumor stage III-IV (heterozygote model: OR=0.60, 95%CI=0.39-0.94, P=0.025; dominant model: OR=0.59, 95%CI=0.39-0.89, P=0.013). The tumor tissues had a higher TYMS expression levels and patients with higher TYMS expression levels had worse OS. Overall, TYMS polymorphism may increase susceptibility to breast cancer in Chinese Han women and TYMS expression levels may be a predictive factor for breast cancer patients.

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Shorter Telomere Length Is Associated with Increased Breast Cancer Risk in a Chinese Han Population: A Case-Control Analysis

Journal of Breast Cancer ◽

10.4048/jbc.2018.21.e52 ◽

2018 ◽

Vol 21 (4) ◽

pp. 391 ◽

Cited By ~ 3

Author(s):

Zhaoxia Wang ◽

Zhenxing Zhang ◽

Yanling Guo ◽

Huifeng Shui ◽

Guoqi Liu ◽

...

Keyword(s):

Breast Cancer ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Telomere Length ◽

Case Control ◽

Chinese Han Population ◽

Control Analysis ◽

Chinese Han ◽

Han Population ◽

Case Control Analysis

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Genetic polymorphisms (rs10636 and rs28366003) in metallothionein 2A increase breast cancer risk in Chinese Han population

Aging ◽

10.18632/aging.101177 ◽

2017 ◽

Vol 9 (2) ◽

pp. 547-555 ◽

Cited By ~ 15

Author(s):

Di Liu ◽

Meng Wang ◽

Tian Tian ◽

Xi-Jing Wang ◽

Hua-Feng Kang ◽

...

Keyword(s):

Breast Cancer ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Genetic Polymorphisms ◽

Increase Breast Cancer Risk ◽

Chinese Han Population ◽

Chinese Han ◽

Han Population

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Association Between Single Nucleotide Polymorphisms in DNA Polymerase Kappa Gene and Breast Cancer Risk in Chinese Han Population

Medicine ◽

10.1097/md.0000000000002466 ◽

2016 ◽

Vol 95 (2) ◽

pp. e2466 ◽

Cited By ~ 31

Author(s):

Zhi-Jun Dai ◽

Xing-Han Liu ◽

Yun-Feng Ma ◽

Hua-Feng Kang ◽

Tian-Bo Jin ◽

...

Keyword(s):

Breast Cancer ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Single Nucleotide Polymorphisms ◽

Dna Polymerase ◽

Chinese Han Population ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Single Nucleotide ◽

Han Population

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Impact of ESR1 Polymorphisms on Risk of Breast Cancer in the Chinese Han Population

10.21203/rs.2.16623/v1 ◽

2019 ◽

Cited By ~ 1

Author(s):

Ying Wei ◽

Xiaolin Wang ◽

Zhe Zhang ◽

Changtao Zhao ◽

Yuwei Chang ◽

...

Keyword(s):

Breast Cancer ◽

Estrogen Receptor ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Cancer Susceptibility ◽

Breast Cancer Susceptibility ◽

Genetic Models ◽

Chinese Han ◽

Han Population ◽

Esr1 Gene

Abstract Background The Estrogen receptor-1 (ESR1) gene encodes estrogen receptor-α which is a major biomarker in the development of breast cancer. This research aimed to investigate the effect of ESR1 polymorphisms on breast cancer in Chinese Han women.Methods Four candidate single nucleotide polymorphisms (SNPs) in ESR1 gene among 503 breast cancer patients and 503 healthy people were genotyped using Agena MassARRAY platform. The association between ESR1 polymorphisms and breast cancer risk was evaluated using odds ratio (OR) and 95% confidence intervals (95% CIs) in four genetic models. The HaploReg v4.1 and GEPIA database were used for SNP functional annotation and ESR1 expression analysis respectively.Results The allele T of rs9383938 in ESR1 was significantly associated with an increased breast cancer risk (OR = 1.26, 95% CI = 1.05 – 1.50, p = 0.013). In genetic models, rs9383938 increased breast cancer risk in codominant model (OR = 1.54, 95% CI = 1.07 – 2.22, p = 0.021), dominant model (OR = 1.31, 95% CI = 1.01 – 1.68, p = 0.040), and additive model (OR = 1.24, 95% CI = 1.04 – 1.48, p = 0.017). Stratification analysis showed that rs9383938 and rs2228480 raised the breast cancer susceptibility at age < 50 years. Rs1801132 of ESR1 was also associated with the status of ER, PR, and Her-2 in allele model and genetic models significantly.Conclusion This study demonstrated that ESR1 polymorphisms might influence breast cancer susceptibility in Chinese Han population. Further mechanisms studies are needed to confirm the contribution of ESR1.

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MIR17HG polymorphism (rs7318578) is associated with liver cancer risk in the Chinese Han population

Bioscience Reports ◽

10.1042/bsr20193312 ◽

2020 ◽

Vol 40 (8) ◽

Author(s):

Xu Chao ◽

Xuesong Feng ◽

Hailong Shi ◽

Yuewen Wang ◽

Lanlan Wang ◽

...

Keyword(s):

Liver Cancer ◽

Cancer Risk ◽

Cancer Susceptibility ◽

Additive Model ◽

Chinese Han Population ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Han Population ◽

Functional Studies ◽

Increased Risk

Abstract Numerous evidence has revealed that single-nucleotide polymorphisms (SNPs) are associated with liver cancer risk. To assess whether the MIR17HG polymorphisms are associated with the liver cancer risk in the Chinese Han population, we performed a case–control (432 liver cancer patients and 430 healthy controls) study. Genotyping of four variants of MIR17HG was performed with the Agena MassARRAY platform. We used χ2 test to compare the distribution of SNPs allele and genotypes frequencies of cases and controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression analysis to evaluate the association under genetic models. The results indicated that the rs7318578 was significantly associated with increased the risk of liver cancer in the allele (OR = 1.45, 95% CI: 1.18–1.77, P=3.04E-04), recessive (OR = 3.69, 95% CI: 2.45–5.56, P=4.52E-10) and additive model (OR = 1.35, 95% CI: 1.13–1.62, P=0.001). Moreover, we found that individuals with the genotype CC of rs7318578 presented with an increased risk of liver cancer (OR = 3.03, 95% CI: 1.98–4.65, P=3.83E-07); however, the CA genotype of rs7318578 significantly decreased the risk of liver cancer (OR = 0.61, 95% CI: 0.45–0.83, P=0.001, compared with those with the AA genotype. Our findings indicated that MIR17HG polymorphism (rs7318578) contributes to liver cancer susceptibility to the Chinese Han population. Further studies with larger samples are required to confirm the results, as well as functional studies to determine the role of this SNP in miRNA expression or molecular pathways.

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