汉族人群RANTES基因多态性与艾滋病病毒-1感染关系的初步研究  

Preliminary study on the association of chemokine RANTES gene polymorphisms with HIV-1 infection in Chinese Han population

作　　者：刘雪林[1] 王福生[2] 金磊[2] 刘明旭[2] 徐德忠[1] 

机构地区：[1]第四军医大学流行病学教研室,西安710032 [2]解放军第三○二医院传染病研究所全军艾滋病防治重点实验室

出　　处：《中华流行病学杂志》2003年第11期971-975,共5页Chinese Journal of Epidemiology

基　　金：全军"十五"医药卫生重点课题资助项目(0 1 2 0 94 );北京市自然科学基金资助项目(70 1 1 0 0 5)

摘　　要：目的　分析RANTES启动子和内含子等位基因在中国汉族健康人群和艾滋病病毒 1(HIV 1)感染者人群的分布特点。方法　用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)法和DNA测序法对中国汉族HIV 1感染者以及健康人群的 53 8份血液样品的RANTES启动子 -40 3、-2 8和 3 0 0份样品的内含子In1.1等位基因进行检测。结果　汉族的健康人群 -40 3、-2 8等位基因具有 6个基因表型 ,AC AC、AC AG、AC GC、AG GC、GC GC、AG AG ,比例分别是 12 .4%、3 .5%、2 9 .2 %、10 .9%、42 .1%、1.5%。从单倍型看 ,以GC最高为 62 .7% ,AC为 2 8.7% ,AG为 8.6%。与AC AC比较 ,AC AG、AC GC、AG GC、GC GC的OR值显示有轻度的保护作用。汉族HIV 1感染者和汉族健康人群间RANTES等位基因频率无统计学差异 ;RANTES内含子In1.1等位基因T T、C T和C C分别为 71.0 %、19.9%和 9.1% ;其中RANTESIn1.1T为 81% ,RANTESIn1.1C为 19%。男性感染者和健康人等位基因分布差异有显著性 ,RANTESIn1.1C比例与健康人比显著增高 ,显示RANTESIn1.1C是HIV 1感染的危险因素 ;但是女性人群比较差异不显著。三个单核苷酸多态性(SNP)位点之间存在严重的连锁不均衡。结论　本项研究证实了在中国汉族人群中存在RANTES启动子 -40 3、-2 8和内含子In1.1突变?ObjectiveTo detect the single nucleotide p olymorphism (SNP) of chemokine regutated upon activation,normal T cell express ed and secreted (RANTES) promoter and first intron of asymtomatic, human immunodeficency virus 1(HIV-1) infected individuals of in Han Chinese and evaluate the influence on HIV-1 infection by variants. MethodsCase-control study was adopted, Genotypies of RANTES promoter-403 and -28 from 538 samples and RANTES first intron In1.1 fro m 300 samples of Han Chinese were detected by DNA sequencing or by polymerase ch ain reaction-restriction fragment length polymorphism. ResultsThere were six genotypes of RANTES promoter-403 and -28 found in Han Chinese group. The distribution of genotypes was AC/AC 12.4 %,AC/AG 3.5 %,AC/GC 29.2 %,AG/GC 10.9 %,GC/GC 42.1 %, AG/AG 1 .5 %. The haplotypes was GC 62.7 %,AC 28.7 %,AG 8.6 %. Compared wit h AC/AC, Odd ratio (OR) of RANTES genotypes AC/AG,AC/GC,AG/GC,GC/GC was a ssociated with weaker reduced susceptibility to HIV-1 infection. However, there were no significant contents of the allele frequencies between people living with HIV-1 and healthy individuals. The distribution of RANTES In1.1 alleles were T/T 71.0 %,C/T 19.9 %、C/C 9.1 % and haplotypes were RANTES In1. 1T 81%, In1.1 C 19%,respectively;There were significant differences of RAN TES In1.1 between people with HIV-1 infection and healthy individuals in male s. The In1.1C-bearing genotypes would increase susceptibility to HIV-1 infecti on but no significant differences in females were found. Strong linkage disequi librium was observed between all of the three RANTES SNPs. ConclusionThe two -403A/G,-28C/G variants in RANTE S promoter region and intron In1.1 T/C mutation genotype were found to be associated with the genetic susceptibility to HIV-1 infection among the Han Chinese. However, the In1.1C allele or its haplotypes in RANTES intron 1 displayed a stronger dominant association with HIV-1 infection in males.

关 键 词：汉族人群 RANTES基因 基因多态性 艾滋病病毒-1感染 聚合酶链反应-限制性片段长度多态性 

分 类 号：R512.91[医药卫生—内科学] R394[医药卫生—临床医学]