Department of Microbiology and Biochemistry, Laboratory of Molecular Biology and Genetics (LABIOGENE), University Ouaga I Prof. Joseph Ki-Zerbo, P.O. Box 7021, Ouagadougou 03, Burkina Faso.
Saint Camille hospital in Ouagadougou (HOSCO), Burkina Faso, P.O. Box 444, Ouagadougou 01, Burkina Faso.
BMC Cardiovasc Disord. 2019 Jun 26;19(1):155. doi: 10.1186/s12872-019-1136-x.
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.
遗传和环境在原发性高血压（EH）的病因中起着重要作用。最近，STK39 rs3754777、ATP2B1 rs2681472 和 rs17249754 与血压变化和高血压有关。在这项研究中，我们旨在首先确定指数变体是否与布基纳法索发生 EH 的风险相关，其次是表征心血管风险标志物。
我们进行了一项病例对照研究，共 380 名参与者，包括 180 名 EH 病例和 200 名血压正常的对照组。我们使用 TaqMan 基因分型检测试剂盒和Applied Biosystems 的探针，使用 7500 Real-Time PCR 系统进行基因分型。使用化学分析仪 COBAS C311 测量生化参数。
T 检验显示，与血压正常者相比，高血压患者的心血管风险标志物如体重指数、腰围、血糖、总胆固醇和甘油三酯显著升高（均 p<0.05）。二元逻辑回归分析显示，超重、高血压家族史、中心性肥胖和饮酒均增加了患 EH 的风险（所有 OR>3.8；均 p<0.001）。在遗传水平上，我们观察到与携带 GG 基因型的个体相比，携带 ATP2B1 rs17249754 的 AA+AG 基因型的个体发生 EH 的风险较低（OR=0.48 [95%CI：0.31-0.75] p=0.001），并且病例组中的 A 等位基因频率明显低于对照组（OR=0.56 [95%CI：0.38-0.82] p=0.003）。我们还观察到 ATP2B1 rs17249754 与病例组和对照组的 SBP 和 DBP 升高显著相关（GG 与 AG+AA；p<0.05），ATP2B1 rs2681472 仅与病例组和对照组的 SBP 升高显著相关（AA 与 AG+GG；p<0.05），STK39 rs3754777 与任何血压特征均无显著相关性（CC 与 CT+TT；p>0.05）。
我们的结果证实了 ATP2B1 rs17249754 与布基纳法索发生 EH 的风险显著相关，并显示了 EH 患者心血管风险标志物水平的升高。
