To investigate the associations of genetic polymorphisms in GSTs genes of the Hakka population of south China with family histories of certain chronic diseases.
Five hundred and thirty-nine healthy Hakka natives of Meizhou city of Guangdong province in south China were involved. The genotypes of GSTM1, GSTT1, GSTP1, GSTM3, and GSTA1 were determined using PCR and restriction fragment length polymorphism analysis. The observed polymorphisms were analyzed by Chi-square and Hardy-Weinberg equilibrium tests. Logistic regression analysis was used to determine the associations of the distributions of GST genotypes with family history of certain chronic diseases.
The distributions of polymorphisms in GSTP1, GSTM3, and GSTA1 conformed to the Hardy-Weinberg equilibrium. Compared to the Cantonese, the Hakka had a lower distribution of the GSTM3 deletion genotype (3.15% vs. 11.9%). A weak association was observed between the GSTM1 genetic polymorphism and family history of hypertension. Alcohol drinkers had a higher frequency of the null-GSTM1 genotype, while smokers had a higher frequency of a variant GSTP1 genotype.
The results suggest that the Hakka is a special and distinctive Han Chinese ethnic group with different GSTs genetic polymorphisms. Smoking and drinking might be related to the distribution of GST genotypes.
[Show abstract][Hide abstract] ABSTRACT: Lynch syndrome, caused by germline mutations in mismatch repair genes, is a predisposing factor for colorectal cancer (CRC). This retrospective cohort study investigated the risk factors associated with the development of CRC in patients with MLH1 and MSH2 germline mutations.
In total, 301 MLH1 and MSH2 germline mutation carriers were identified from the Amsterdam criteria family registry provided by the Taiwan Hereditary Nonpolyposis Colorectal Cancer Consortium. A Cox proportional hazard model was used to calculate the hazard ratios (HRs) and 95% confidence intervals (CIs) to determine the association between the risk factors and CRC development. A robust sandwich covariance estimation model was used to evaluate family dependence.
Among the total cohort, subjects of the Hakka ethnicity exhibited an increased CRC risk (HR = 1.62, 95% CI = 1.09-2.34); however, those who performed regular physical activity exhibited a decreased CRC risk (HR = 0.62, 95% CI = 0.41-0.88). The CRC risk was enhanced in MLH1 germline mutation carriers, with corresponding HRs of 1.72 (95% CI = 1.16-2.55) and 0.54 (95% CI = 0.34-0.83) among subjects of the Hakka ethnicity and those who performed regular physical activity, respectively. In addition, the total cohort with a manual occupation had a 1.56 times higher CRC risk (95% CI = 1.07-2.27) than did that with a skilled occupation. Moreover, MSH2 germline mutation carriers with blood group type B exhibited an increased risk of CRC development (HR = 2.64, 95% CI = 1.06-6.58) compared with those with blood group type O.
The present study revealed that Hakka ethnicity, manual occupation, and blood group type B were associated with an increased CRC risk, whereas regular physical activity was associated with a decreased CRC risk in MLH1 and MSH2 germline mutation carriers.
PLoS ONE 06/2015; 10(6). DOI:10.1371/journal.pone.0130018 · 3.23 Impact Factor
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