刘城秀,沈云松,李桃意,张禹,檀林萍,姚月婷,俞建昆,姚宇峰,史荔
LIU Chengxiu,SHEN Yunsong,LI Taoyi,ZHANG Yu,TAN Linping,YAO Yueting,YU Jiankun,YAO Yufeng,SHI Li

• 1:中国医学科学院&北京协和医学院医学生物学研究所
• 2:云南省重大传染病疫苗研发重点实验室
• 3:云南省第一人民医院&昆明理工大学附属医院

摘要(Abstract)：

目的:探讨云南汉族人群中CD6基因多态性与慢性丙型肝炎病毒(HCV)感染的关系。方法:随机抽取云南地区汉族人群HCV慢性感染患者434例,健康对照人群444例;采用TaqMan探针基因分型方法对2组人群的CD6基因3个SNPs(rs17824933、rs12360861、rs11230563)进行基因分型,构建CD6基因单倍型,评估上述3个SNPs与HCV慢性感染的关系。结果:两组人群CD6基因SNP-rs17824933(C>G)、SNP-rs12360861(G>A)和SNP-rs11230563(C>T)基因型频率和等位基因频率比较,差异无统计学意义(P>0.05);2组人群的SNP-rs17824933(C>G)、SNP-rs12360861(G>A)和SNP-rs11230563(C>T)单倍型频率比较,差异无统计学意义(P>0.05)。结论:此次调查的云南汉族群体的CD6基因SNP-rs17824933(C>G)、SNP-rs12360861(G>A)和SNP-rs11230563(C>T)与HCV慢性感染无关。
Objective: To investigate the association between CD6 gene polymorphism and chronic HCV chronic infection of Han population in Yunnan province. Methods: 434 HCV chronic infectious patients and 444 healthy individuals of Han Chinese population in Yunnan province were recruited for this study. Three single nucleotide polymorphisms( SNPs) of SNP-rs17824933,SNP-rs12360861 and SNP-rs11230563 of CD6 gene were determined by real-time TaqMan polymerase chain reaction and the haplotypes were constructed. Then evaluating the association correlation of these SNPs and haplotypes with HCV chronic infection. Results: The comparison of frequencies of allele and genotype of both groups of SNP-rs17824933( C > G),SNP-rs12360861( G > A) and SNP-rs11230563( C > T)showed that differences were not statistically significant( P > 0. 05). The frequency of haplotypes constructed by SNP-rs17824933( C > G),SNP-rs12360861( G > A) and SNP-rs11230563( C > T)showed no significant difference( P > 0. 05). Conclusion: SNP-rs17824933( C > G), SNPrs12360861( G > A) and SNP-rs11230563( C > T) in the CD6 were not associated with HCV chronic infection in the Han population in Yunnan province.

关键词(KeyWords)： 肝炎,丙型,慢性;多态性单核苷酸;基因,CD6;云南
hepatitis C,chronic;polymorphism,single nucleotide;gene,CD6;Yunnan

Abstract:

Keywords:

基金项目(Foundation): 国家自然科学基金(81160197);; 吴阶平医学基金(320.6750.13395)

作者(Author): 刘城秀,沈云松,李桃意,张禹,檀林萍,姚月婷,俞建昆,姚宇峰,史荔
LIU Chengxiu,SHEN Yunsong,LI Taoyi,ZHANG Yu,TAN Linping,YAO Yueting,YU Jiankun,YAO Yufeng,SHI Li

DOI: 10.19367/j.cnki.1000-2707.2016.05.008

参考文献(References)：

• [1]Zhang C,Wu N,Liu J.HCV subtype characterization among injection drug users:implication for a crucial role of Zhenjiang in HCV transmission in China[J].PLo S One,2011(6):e16817.
• [2]Sebastiani G,Gkouvatsos K,Pantopoulos K.Chronic hepatitis C and liver fibrosis[J].World J Gastroenterol,2014(20):11033-11053.
• [3]Zuniga J,Romero V,Azocar J.Protective KIR-HLA interactions for HCV infection in intravenous drug users[J].Mol Immunol,2009(46):2723-2727.
• [4]Knapp S,Warshow U,Hegazy D.Consistent beneficial effects of killer cell immunoglobulin-like receptor 2DL3and group 1 human leukocyte antigen-C following exposure to hepatitis C virus[J].Hepatology,2010(51):1168-1175.
• [5]戎霞,黄杰庭,熊华平.广州献血人群HLA多态性与慢性HCV感染的关联研究[J].中国输血杂志,2014(27):1116-1119.
• [6]刘铮,康轶青,张丽.河南人群病毒性丙型肝炎与HLA多态性的关联研究[J].免疫学杂志,2015(31):790-794.
• [7]Bodian DL,Skonier JE,Bowen MA.Identification of residues in CD6 which are critical for ligand binding[J].Biochemistry,1997(36):2637-2641.
• [8]Swaminathan B,Cuapio A,Alloza I.Fine mapping and functional analysis of the multiple sclerosis risk gene CD6[J].PLo S One,2013(8):e62376.
• [9]陈红松,窦晓光,段钟平.丙型肝炎防治指南(2015年更新版)[J].临床肝胆病杂志,2015(31):1961-1979.
• [10]Shi YY,He L,SHEsis.a powerful software platform for analyses of linkage disequilibrium,haplotype construction,and genetic association at polymorphism loci[J].Cell Res,2005(15):97-98.
• [11]Li Z,Zhang Z,He Z.A partition-ligation-combinationsubdivision EM algorithm for haplotype inference with multiallelic markers:update of the SHEsis(http://analysis.bio-x.cn)[J].Cell Res,2009(19):519-523.
• [12]Zhou YH,Yao ZH,Liu FL.High prevalence of HIV,HCV,HBV and co-infection and associated risk factors among injecting drug users in Yunnan province,China[J].PLo S One,2012(7):e42937.
• [13]Hassan NJ,Barclay AN,Brown MH.Frontline:Optimal T cell activation requires the engagement of CD6 and CD166[J].Eur J Immunol,2004(34):930-940.
• [14]Oliveira MI,Goncalves CM,Pinto M.CD6 attenuates early and late signaling events,setting thresholds for Tcell activation[J].Eur J Immunol,2012(42):195-205.
• [15]Zimmerman AW,Joosten B,Torensma R.Long-term engagement of CD6 and ALCAM is essential for T-cell proliferation induced by dendritic cells[J].Blood,2006(107):3212-3220.
• [16]Castro MA,Oliveira MI,Nunes RJ.Extracellular isoforms of CD6 generated by alternative splicing regulate targeting of CD6 to the immunological synapse[J].J Immunol,2007(178):4351-4361.
• [17]De Jager PL,Jia X,Wang J.Meta-analysis of genome scans and replication identify CD6,IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci[J].Nat Genet,2009(41):776-782.
• [18]Desmet FO,Hamroun D,Lalande M.Human Splicing Finder:an online bioinformatics tool to predict splicing signals[J].Nucleic Acids Res,2009(37):e67.
• [19]Baralle D,Baralle M.Splicing in action:assessing disease causing sequence changes[J].J Med Genet,2005(42):737-748.
• [20]Wagner M,Bilinska M,Pokryszko-Dragan A.ALCAM and CD6-multiple sclerosis risk factors[J].J Neuroimmunol,2014(276):98-103.
• [21]da Gloria VG,Martins de Araujo M,Mafalda Santos A.T cell activation regulates CD6 alternative splicing by transcription dynamics and SRSF1[J].J Immunol,2014(193):391-399.
• [22]Singer NG,Fox DA,Haqqi TM.CD6:expression during development,apoptosis and selection of human and mouse thymocytes[J].Int Immunol,2002(14):585-597.
• [23]Swaminathan B,Matesanz F,Cavanillas ML.Validation of the CD6 and TNFRSF1A loci as risk factors for multiple sclerosis in Spain[J].J Neuroimmunol,2010(223):100-103.
• [24]Kofler DM,Severson CA,Mousissian N.The CD6 multiple sclerosis susceptibility allele is associated with alterations in CD4+T cell proliferation[J].J Immunol,2011(187):3286-3291.

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