摘要
目的:探讨新疆哈萨克族人群内皮型一氧化氮合酶(eNOS)基因标签单核苷酸多态性与原发性高血压之间的关系。方法:采用流行病学病例—对照研究,酚—氯仿法进行DNA抽取及纯化,用SNaPshot分型技术对新疆哈萨克族363例原发性高血压患者(病例组)和370例健康对照者(对照组)进行eNOS基因的6个标签单核苷酸的多态性(tSNP)rs1800783、rs7830、rs3918188、rs1799983、rs2070744和rs1800779分型,并测定十项生化指标,测量体重指数、腰臀比等指标。结果:新疆哈萨克族人群eNOS基因6个tSNP在病例组各基因型频率和等位基因频率与对照组分布差异无统计学意义(P>0.05)。性别分层发现eNOS基因rs1799983男性病例组与对照组G和T等位基因频率差异有统计学意义(P<0.05),男性病例组G等位基因频率(80.8%)低于对照组(87.9%),而T等位基因频率(19.2%)高于对照组(12.1%),T等位基因患病风险为G等位基因的0.587倍(95%CI 0.370～0.901,P=0.015)。发现除rs1800783、rs1800779、rs2070744位点间存在强的配对连锁不平衡外,其它tSNP各位间不存在配对强连锁不平衡,所构建的单体型在病例组和对照组的分布频率差异无统计学意义(P>0.05)。结论:eNOS基因rs1799983 T等位基因可能是新疆哈萨克族男性原发性高血压的遗传易感基因;rs1800783与rs1800779、rs2070744位点间存在强连锁不平衡;6个tSNP构建的单体型与原发性高血压无相关性。
Objective： To investigate the relationship between endothelial nitric oxide synthase（eNOS）gene tag single nucleotide polymorphism（tSNP）and essential hypertension（EH）in Kazak population at Xinjiang area. Methods： We conducted epidemiological case-control study in 733 Kazak population,using SNaPshot typing technique chose 363 EH patients（EH group）and 370 normal subjects（Control group）.We examined eNOS gene for 6 tSNP as rs1800783,rs7830,rs3918188,rs1799983,rs2070744 and rs1800779. Results：There were no statistic differences for 6 tSNP genotypes between EH group and Control group,P0.05.Gender stra-tification found that rs1799983 of male G and T allele frequencies in EH group were significantly different from Control group,P0.05.In male patients,G allele frequency（80.8%）was lower than that in Control group（87.9%）,while T allele frequency（19.2%）was higher than that in Control group（12.1%）.T allele carriers had 0.587-time higher risk than G allele carriers for suffering from EH（95% CI 0.370~0.901,P=0.015）.We found strong linkage disequilibrium（LD） in the sites of rs1800783,rs1800779 and rs2070744 locus,there were no strong LD among the other tSNP sites.There were no statistical differences in haplotypes frequencies between EH group and Control group,P0.05. Conclusion： eNOS gene rs1799983 T allele may likely be the genetic susceptibility gene for EH in male Kazakh population.There were strong LD in sites of rs1800783,rs1800779 and rs2070744 locus.No correlations between 6 tSNP genotypes and essential hypertension.
出处
《中国循环杂志》
CSCD
北大核心
2012年第2期91-94,共4页
Chinese Circulation Journal
基金
国家自然科学基金(No.30860079)(No.30860102)
关键词
高血压
一氧化氮合酶
单核苷酸多态性
哈萨克族
Hypertension
Nitric oxide synthase
Single nucleotide polymorphism
Kazak population
