<em>CYP17 </em>polymorphisms are associated with decreased risk of breast cancer in Chinese Han women: a case&ndash;control study

Abstract

IntroductionCYP17 is the second most important enzyme in estradiol synthesis. Epidemiological studies have shown the associations between CYP17 polymorphisms and cancer risk. We conducted a case–control study to evaluate the relationship between CYP17 polymorphisms (rs743572 and rs2486758) and breast cancer (BC) risk.Patients and methodsThis case–control study included 560 BC patients and 583 age-matched healthy controls from Northwest China. Two polymorphisms (rs743572 and rs2486758) of CYP17 were genotyped by using Sequenom MassARRAY. ORs and 95% CIs were used to evaluate the relationship.ResultsCompared with the wild genotype of rs743572, we found a significantly reduced risk of BC associated with the variant genotypes (heterozygote model: OR=0.69, 95% CI=0.53–0.89; homozygote model: OR=0.68, 95% CI=0.49–0.95; dominant model: OR=0.69, 95% CI=0.54–0.87; overdominant model: OR=0.78, 95% CI=0.62–0.98; allele model: OR=0.79, 95% CI=0.66–0.93). For rs2486758 polymorphism, we did not find any difference in any of the genetic models. Further stratification analysis by clinical characteristics showed rs743572 was associated with estrogen receptor status (heterozygote model: OR=2.13, 95% CI=1.47–3.08; homozygote model: OR=3.29, 95% CI=1.94–5.58; dominant model: OR=2.39, 95% CI=1.69–3.37) and progesterone receptor status (homozygote model: OR=3.17, 95% CI=1.82–5.55), but there was no association between rs2486758 and clinical characteristics of BC. Haplotype analysis showed that Grs743572Crs2486758 haplotype was a protective factor of BC (OR=0.52, 95% CI=0.40–0.67). Survival analysis did not find that CYP17 rs743572 polymorphism was associated with triple-negative BC, either in terms of overall survival or progression-free survival.ConclusionOur results suggest that CYP17 polymorphisms may reduce the susceptibility to BC in Chinese women.

Association of polymorphisms in LOC105377871 and CASC16 with breast cancer in the northwest Chinese Han population

“…Peripheral blood (5 mL) from each subject was collected in test tube containing ethylenediamine tetraacetic acid and all blood samples were stored in a refrigerator at −80°C . Then, we extracted DNA from the blood samples using the Gold‐Mag nanoparticles method (Gold Mag Co., Ltd, Xian, China) and measured the DNA concentration and purity with a NanoDrop 2000C (Thermo Scientific, Waltham, MA, USA) …”

The association of CASC16 variants with breast Cancer risk in a northwest Chinese female population

“…Many recent studies have established that genetic factor also had a vital role in progression of breast cancer (Bray et al 2013;Sehrawat et al 2011;Ruiz-Narvaez et al 2013;Han et al 2011), and there were 27% of the breast cancer risk influenced by genetic variants (Lichtenstein et al 2000). In addition, a number of genes including BRCA1, BRCA2, PTEN, TP53, CYP17 and other different genes have demonstrated that their polymorphisms were associated with risk of breast cancer (Nelson et al 2012;Liao et al 2018;Walsh and King 2007;Han et al 2016a;Wang et al 2016;Lilyquist et al 2018;He et al 2014;Chen et al 2016b;Yang et al 2018).…”

The Effect of SOCS2 Polymorphisms on Type 2 Diabetes Mellitus Susceptibility and Diabetic Complications in the Chinese Han Population

“…The deviation from HWE for each SNP was determined using goodness-of-t χ 2 tests in controls. Logistic regression analysis after adjusting for age and gender was utilized to investigate the relationship of SNPs to T2DM predisposition by calculating the odds ratio (OR) and 95% con dence intervals (95% CI) [33]. The in uence of combined SNPs on T2DM susceptibility was determined using haplotype analysis and multifactor dimensionality reduction (MDR) analysis.…”