TERT基因单核苷酸多态性与新疆维吾尔族人长寿的关联研究  

The association study of single nucleotide polymorphisms of TERT gene with longevity in Xinjiang Uygur population

作　　者：梁晓慧[1] 韩璐[1,2] 李素华[3] 徐新娟[1] 

机构地区：[1]新疆医科大学第一附属医院心脏中心高血压科,乌鲁木齐830000 [2]武警新疆总队医院机关门诊部,乌鲁木齐830000 [3]新疆医科大学第一附属医院肾病科,乌鲁木齐830000

出　　处：《新疆医科大学学报》2011年第10期1065-1069,共5页Journal of Xinjiang Medical University

基　　金：国家自然科学基金项目(30860296)

摘　　要：目的探讨TERT基因rs2075786多态性与新疆维吾尔族人长寿的关联。方法共纳入新疆和田地区维吾尔族361例,其中长寿组为112例,对照组为249例。用SNaPshot SNP分型技术对TERT基因rs2075786位点进行基因型的检测及与长寿的关联研究。结果 (1)TERT基因rs2075786位点分析显示,长寿组中T和C等位基因频率分别为66.5%和33.5%,对照组分别为56.2%和43.8%;长寿组中TT、TC、CC基因型频率分别为45.5%、42.0%、12.5%,对照组分别为34.9%、42.6%、22.5%。长寿组CC基因型和C等位基因频率低于对照组,差异有统计学意义(P=0.044、0.009)。进一步分析表明,以TT基因型作为参照,携带CC基因型与TT基因型相比,携带C等位基因者与T等位基因者相比,差异有统计学意义;(2)TERT基因rs2075786位点分析显示,在对照组中携带TC+CC基因型者脉压指数高于TT基因型携带者,差异有统计学意义。结论 TERT基因rs2075786位点多态可能与新疆维吾尔族人长寿有关,rs2075786位点CC基因型和C等位基因可能是长寿的不利因素。rs2075786位点多态可能通过影响血管功能参与长寿。Objective To investigate the association of single nucleotide polymorphisms of Telomerase reverse transcriptase（TERT） gene with longevity in Xinjiang Uygur population.Methods A total of 361 Uygur subjects were selected including 112 individuals ≥90 years old and 249 controls.TERT gene rs2075786 was genotyped by snapshot method and the distribution was estimated.Results（1）The distributions of CC genotype and C allele of rs2075786 in longevity group were lower than in control group（P=0.044,0.009）.The SNP rs2075786 was significantly associated with longevity（CC versus TT： P=0.013,OR=0.426,95%CI： 0.216~0.842;C versus T： P=0.009,OR=0.647,95%CI： 0.465~0.899）;（2） Pulse pressure index（PPI） in TC＋CC genotype was markedly higher than in TT genotype of TERT rs2075786 in control group.Conclusion Our study reveals that TERT gene rs2075786 polymorphisms might be associated with longevity in Xinjiang Uygur population.CC genotype and C allele of rs2075786 are the adverse factors of longevity.The site rs2075786 might be associated with longevity through impacts on vascular function.

关 键 词：维吾尔族 逆转录酶 长寿 

分 类 号：Q789[生物学—分子生物学]