B族Ⅰ型清道夫受体基因外显子8多态性与通道侗族人群高血压的相关性

Correlation between the polymorphism of exon 8 belonging to SR-BⅠ gene and hypertension in TongDao Dong population in China

目的:探讨B族Ⅰ型清道夫受体(SR-BⅠ)基因外显子8和内含子5基因多态性与通道侗族人群高血压的相关性。方法:收集通道侗族人群高血压与正常对照人群血样共241例。其中高血压组120例,对照组121例。通过聚合酶链式反应和基因测序,对SR-BⅠ外显子8和内含子5基因多态性进行检测,分析其基因多态性与通道侗族高血压及血脂水平的关系。结果:SR-BⅠ内含子5在两组人群中均为CC型。外显子8在高血压组和对照组中CC、CT和TT型的频率分别为50.8%、44.2%、5.0%和55.4%、39.7%、5.0%,两组间的基因型频率和等位基因频率差异均无统计学意义(P>0.05)。在整个通道侗族人群中,TT人群的血甘油三酯水平(单位:mmol/L)较CC型和CT型人群明显升高(TT vs CC:2.83±1.54 vs 1.68±0.93;TT vs CT:2.83±1.54 vs 1.71±1.04;均为P<0.05)。结论:SR-BⅠ外显子8和内含子5基因多态性均与通道侗族人群高血压无关,外显子8的纯合突变可能引起通道侗族人群甘油三酯水平的升高。

Objective:To investigate the correlation between the single nucleotide polymorphism of exon 8 and intron 5 belonging to scavenger receptor B type Ⅰ(SR-BⅠ) Gene and hypertension in TongDao Dong population in China.Methods:A total of 241 participants were involved in this study(120 hypertensive patients and 121 normal adults).The polymerase chain reaction and gene sequencing were applied to detect the genotype of exon 8 and intron 5, and then the relationship of their polymorphysm and hypertension, as well as blood lipids were analyzed.Results:All the genotypes of intron 5 were CC in TongDao Dong population.The frequency of the TT, TC, and CC genotype in exon 8 was50.8%, 44.2%, and 5.0%, respectively, in hypertensive patients, and 55.4%, 39.7%, and5.0%, respectively, in healthy controls respectively.There’s no difference in the genotypic and allelic frequencies between normotensive and hypertensive groups(P>0.05).Besides, the TT genotypes were related to an increased plasma triglyceride(TG) level(TT vs CC:(2.83±1.54) mmol/L vs(1.68±0.93) mmol/L;TT vs CT:(2.83±1.54) mmol/L vs(1.71±1.04) mmol/L;both P<0.05).Conclusion:There is no correlation between the exon 8 and instron 5’s polymorphisms of SRBⅠ and hypertension in TongDao Dong population.The TT carriers in exon 8 of SR-BⅠ may cause an increased serum TG concentration in this population.