METHODS: A case-control study was conducted to elucidate the role of ATP2B1 gene variants related to the risk of essential hypertension. Genomic DNA was extracted from peripheral blood leukocytes, using the QIAamp DNA Mini Kit (QIAGEN,Germany). Two SNPs, - rs17249754 and rs6253, were examined on 1 280 patients and 1 010 healthy controls, using a Snapshot method. Statistical analyses were performed with SPSS Windows software (version 19.0;SPSS, Chicago, IL).
RESULTS: A significant difference was found in rs17249754 allele frequency between cases and controls (OR = 1.223, 95%CI: 1.083-1.381, P = 0.001). After adjustment for age, sex, BMI, smoking and drinking, the difference was still statistically significant (OR = 1.212, 95%CI:1.070-1.373, P = 0.003). In addition, data from genotype distribution analysis under different models showed that appeared significant associations between ATP2B1 gene polymorphism and essential hypertension (additive model OR = 1.469, 95%CI: 1.121-1.925, P = 0.005; dominant model OR = 1.324, 95%CI:1.029-1.704, P = 0.029;recessive model OR = 1.123, 95%CI:1.031-1.223, P = 0.008). In this study, the proportion of smokers in cases was significantly higher than that in controls (P = 0.005), but no associations between rs17249754-smoking interaction and essential hypertension were found after the adjustment for gender, age, BMI and alcohol consumption (OR = 1.024, 95% CI:0.614-1.707).
CONCLUSIONS: Our research findings showed that the polymorphism of ATP2B1 gene rs17249754 was significantly associated with the incidence of essential hypertension in Han population of northeastern China. However, the interaction between rs17249754 and smoking did not seem to have contributed to the occurrence of the essential hypertension.