CAJ | 학술논문

目的从等位基因及基因型2个层次探讨人类白细胞抗原(HLA)-DRB1基因与中国北方汉族人群类风湿关节炎(RA)的相关性.方法选取RA患者281例及健康对照202名,以直接测序法(SBT)对HLA-DRB1的亚型进行检测,并用UTYPE软件进行分析.HLA-DRB1的分类采用经典的共同表位(SE)分类及2005年Tezenas du Montcel等提出的新分类:即根据DRB 1的72～74位氨基酸序列是否具有精氨酸-丙氨酸-丙氨酸(RAA)序列特点,将DR分子分为S及X,再根据70及71位氨基酸的特点进一步将S分成S1～S3.采用直接计数法计算等位基因频率.统计学方法采用x2检验.结果在281例中国北方RA患者中,共检出41种DRB1亚型,含SE的患者占44.8％.其中70～74位编码QRRAA序列的亚型占33.8％(95/281),显著高于健康人(P＜0.05),是RA的易感亚型.在汉族人中这些亚型包括*0101,*0102,*0404,*0405及*0410.编码DRRAA以及DERAA序列者为RA的保护亚型,分别占22.5％(91/562)和3.7％(15/562),显著低于健康对照(P＜0.05).利用2005年Tezenas du Montcel等提出的新分类体系,对HLA-DRB1基因型进行分析,携带SE及Tezenas du Montcel新分类中S3P的基因型为RA的易感基因型,而新分类中的S3D及S1E为RA的保护基因型.结论中国汉族人群的HLA-DRB1的易感亚型特点皆为QRRAA序列,保护亚型为DRRAA与DERAA,具体分型及分布与白种人不同,需要建立更完善的中国人群HLA分型数据库.
목적 종등위기인급기인형2개층차탐토인류백세포항원(HLA)-DRB1기인여중국북방한족인군류풍습관절염(RA)적상관성.방법 선취RA환자281례급건강대조202명,이직접측서법(SBT)대HLA-DRB1적아형진행검측,병용UTYPE연건진행분석.HLA-DRB1적분류채용경전적공동표위(SE)분류급2005년Tezenas du Montcel등제출적신분류:즉근거DRB 1적72～74위안기산서렬시부구유정안산-병안산-병안산(RAA)서렬특점,장DR분자분위S급X,재근거70급71위안기산적특점진일보장S분성S1～S3.채용직접계수법계산등위기인빈솔.통계학방법채용x2검험.결과 재281례중국북방RA환자중,공검출41충DRB1아형,함SE적환자점44.8％.기중70～74위편마QRRAA서렬적아형점33.8％(95/281),현저고우건강인(P＜0.05),시RA적역감아형.재한족인중저사아형포괄*0101,*0102,*0404,*0405급*0410.편마DRRAA이급DERAA서렬자위RA적보호아형,분별점22.5％(91/562)화3.7％(15/562),현저저우건강대조(P＜0.05).이용2005년Tezenas du Montcel등제출적신분류체계,대HLA-DRB1기인형진행분석,휴대SE급Tezenas du Montcel신분류중S3P적기인형위RA적역감기인형,이신분류중적S3D급S1E위RA적보호기인형.결론 중국한족인군적HLA-DRB1적역감아형특점개위QRRAA서렬,보호아형위DRRAA여DERAA,구체분형급분포여백충인불동,수요건립경완선적중국인군HLA분형수거고.
Objective This study is aimed to investigate the association of human leukocyte antigen (HLA)-DRB1 with rheumatoid arthritis (RA) in Chinese Han population.Methods A total of 281 Chinese Han patients with RA and 202 healthy controls were recruited.DNA was extracted from PBMC and HLA typing was performed by sequence based typing and PCR-Sequence Specific Primer.The frequency of HLADRB1 was compared between patients and controls using x2 test with continuity correction.Results The susceptible HLA-DRB1 alleles were * 0101,* 0102,*0404,* 0405,and * 0410 which belonged to QRRAA.DRRAA and DERAA were protective alleles.At genotypic level,The association of S3P and S3D was detected.However,the protective effect of S3D was shown to be in a recessive mode.Conclusion Our results have shown that there are racial differences in RA susceptibility between Chinese Han population and Caucasians.