Genetic and environment play a significant role in the etiology of essential hypertension (EH). Recently STK39 rs3754777, ATP2B1 rs2681472 and rs17249754 have been associated with BP variation and hypertension. In this study we aimed to determine firstly whether index variants were associated with the risk of developing EH in Burkina Faso and secondly to characterize cardiovascular risk markers.
We conducted a case-control study with 380 participants including 180 case subjects with EH and 200 control subjects with normal BP. We used TaqMan genotyping assays with probes from Applied Biosystems to genotype polymorphisms using the 7500 Real-Time PCR System. Biochemical parameters were measured using chemistry analyzer COBAS C311.
T-test showed that cardiovascular risk markers such as body mass index, waist circumference, blood sugar, total cholesterol and triglycerides were significantly higher in hypertensive compared to normotensive (all p <  0.05). Binary logistic regression analysis revealed in decreasing order that overweight, family history of hypertension, central obesity and alcohol intake increased the risk of developing EH (all OR > 3.8; all p <  0.001). In genetic level we observed that individuals carrying the AA+AG genotype of ATP2B1 rs17249754 had a low risk of developing EH than those carrying the GG genotype (OR = 0.48 [95% CI: 0.31-0.75] p = 0.001) and the A allele frequency in the cases was significantly lower than that of the controls (OR = 0.56 [95% CI: 0.38-0.82] p = 0.003). We also observed that ATP2B1 rs17249754 was significantly associated with higher SBP and DPB in case and control groups (GG versus AG + AA; p <  0.05), ATP2B1 rs2681472 was significantly associated with higher SBP only in case and control group (AA versus AG + GG; p <  0.05), STK39 rs3754777 was not significantly associated with any of the BP traits (CC versus CT + TT; p > 0.05).
Our results confirmed the significant association of ATP2B1 rs17249754 with the risk of developing EH in Burkinabe and showed an increase of cardiovascular risk markers levels in subjects with EH.

OBJECTIVE: To investigate the association between polymorphism of ATP2B1 gene, its interaction with smoking and susceptibility of essential hypertension.
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.