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

刘雪林; 王福生; 金磊; 刘明旭; 徐德忠

Abstract

刘雪林,王福生,金磊,刘明旭,徐德忠.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[J].Chinese journal of Epidemiology,2003,24(11):971-975

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

Received:April 08, 2003

DOI：

KeyWord: 人类免疫缺陷病毒单核苷酸多态性聚合酶链反应限制性片段长度多态性

English Key Word: Human immuno deficiency virus Single nucleotide polymor phism Polymerase chain reaction-restriction fragment lengh polymorphism

FundProject:全军“十五”医药卫生重点课题资助项目(012094);北京市自然科学基金资助项目(7011005)

Author Name	Affiliation	E-mail
LIU Xue-lin	Department of Epidemiology, Fourth Military Medical University, Xi’an 710032, China
WANG Fu-sheng	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	Fswang@public.bta.net.cn
JIN Lei	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
LIU Ming-xu	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
XU De-zhong	Department of Epidemiology, Fourth Military Medical University, Xi’an 710032, China

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Abstract:

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538份血液样品的RANTES启动子-403、-28和300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-403、-28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%、29.2%、10.9%、42.1%、1.5%.从单倍型看,以GC最高为62.7%,AC为28.7%,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RANTES In1.1T为81%,RANTES In1.1C为19%.男性感染者和健康人等位基因分布差异有显著性,RANTES In1.1C比例与健康人比显著增高,显示RANTES In1.1C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-403、-28和内含子In1.1突变.内含子In1.1C与增加HIV易感性有关.与基因表型AC/AC比较,AC/AG、AC/GC、AG/GC、GC/GC的OR值显示都有不同程度的保护作用.

English Abstract:

Objective To detecTthe single nucleotide polymorphism ( SNP) of chemokine regutated upon activation, normal Tcell expressed and secreted ( RANTES) promoter and firsTintron of asymtomatic, human immunodeficency v irus 1( HIV-1) infected indiv iduals of in Han Chinese and evaluate the influence on HIV-1 infection by variants. Methods Case-control study was adopted, Genoty pies of RANTES promoter-403 and-28 from 538 samples and RANTES firsTintr on In1. 1 from 300 samples of Han Chinese wer e detected by DNA sequencing or by polymerase chain reaction-restriction fragmenTlength polymorphism. Results There 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 with AC??AC, Odd ratio ( OR ) of RANTES genotypes AC??AG, AC??GC, AG??GC, GC??GC was associated wiTh weaker reduced susceptibility to HIV-1 infection. However, there were no significanTcontents of The allele frequencies betweenpeople living wiTh HIV-1 and healthy indiv iduals. The distr ibution of RANTES In1. 1 alleles were T??T71. 0%, C??T19. 9%、C??C 9. 1% and haplotypes were RANTES In1. 1T81%, In1. 1C 19%, respectively ; There were significanTdifferences of RANTES In1. 1 betweenpeople with HIV-1 infection and healthy indiv iduals in males. The In1. 1C-bearing genotypes would increase susceptibility to H IV-1 infection buTno significanTdifferences in females were found. Strong linkage disequilibrium was observed between all of the thr ee RANTESSNPs. Conclusion The two-403A??G,-28C??Gvar iants in RANTES promoter region and intron In1. 1 T??Cmutation genotype were found to be associated with the geneTic susceptibility to HIV-1 infection among the Han Chinese. However, The In1. 1Callele or its haplotypes in RANTES intron1 displayed astronger dominanTassociation with HIV-1 infection in males.

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