中国北方汉族人群CYP4F2基因rs2108622多态性与原发性高血压的相关性研究

目的：探讨我国北方汉族人群CYP4F2基因单核苷酸多态性位点rs2108622与原发性高血压的相关性。方法：采用病例-对照研究的方法,选取在北京安贞医院就诊的北方汉族原发性高血压者765例（HT组）和同期健康体检血压正常者477例（NT组）。应用TaqMan荧光定量法对CYP4F2基因rs2108622进行基因分型,评估该多态性位点与我国北方汉族人群原发性高血压发病风险的关系。结果：rs2108622位点在HT组和NT组的基因型分别为AA型61/35、AG型296/162、GG型403/273;A等位基因频率分别为27.5%/24.7%,G等位基因频率分别72.5%/75.3%。两组间基因型和等位基因频率分布,差异均无统计学意义（分别为P=0.218,P=0.123）。多因素Logistic回归分析显示：等位基因模型（OR=1.147,95%CI=0.853!1.543）、显性模型（OR=0.788,95%CI=0.549!1.131）、隐性模型（OR=1.153,95%CI=0.549!2.422）、纯合子模型（OR=1.018,95%CI=0.48!2.157）、加性模型（OR=0.872,95%CI=0.649!1.172）均未发现该多态性位点与原发性高血压存在相关性。根据性别进行亚组分析显示：男性亚组中A等位基因频率在HT组（27.5%）高于NT组（23.7%）,但差异无统计学意义（P=0.096）。而在女性亚组中各基因型和等位基因频率分布两组间比较,亦均差异无统计学意义（P=0.579和P=0.677）。结论：本研究发现CYP4F2基因rs2108622多态性位点可能与中国北方汉族人群原发性高血压的发病不存在相关性。

Association of rs2108622 polymorphism of CYP4F2 gene and essential hypertension in the Northern Han Chinese

Objective：This study was designed to investigate the potential association rs2108622 poly- morphism of CYP4F2 gene and essential hypertension in the Northem Han Chinese. Methods： 765 essential hypertensive patients （HT group） and 477 healthy normotensive controls （NT group） were screened and DNA was acquired from white blood cells. Real-Time quantitative PCR was used for the detection of rs2108622 poly- morphism of CYP4F＇2 gene. Results： The genotype distribution and allele frequency of rs2108622 polymorphism were not significantly different between HT group and NT group, AA： AG： GG = 8.0%/7.4%： 38. 9%/ 34. 5% ： 53.0%/ 58. I% for the genotype distribution frequency and A： G = 27. 5%/24. 7% ： 72. 5%/ 75.3% for allele frequency. After adjustment for potential confounding factors, such as age, BMI, smoking and alcohol status, no significant association has been found between rs2108622 polymorphism and hypertension in all enetic models （allele comparison： OR = 1. 147.95% CI = 0. 853 -1. 543： dominant ,enetie model： OR =0. 788,95% CI = 0. 549 - 1.131 ; recessive genetic model ： OR = 1. 153,95% CI = 0. 549 - 2. 422 ; homozygote comparison： OR = 1. 018,95% CI = 0.48 - 2. 157 ; additive genetic model： OR = 0. 872,95% CI = O. 649 - 1. 172）. Subgroup analyses were performed by gender and showed that A allele of rs2108622 polymorphism has an increased trend in male HT group, but the difference did not reach statistical significance. Conclusion： Our research demonstrated that rs2108622 of CYP4F2 gene was associated with essential hypertension in Northern Chinese Han population.