CAJ | 학술논문

目的探讨4型肽酰基精氨酸脱亚胺酶( PADI4)单核苷酸多态性(SNP)与中国河北汉族人群类风湿关节炎(RA)易感性的关系.方法采用病例-对照研究方法,用聚合酶链反应-限制性内切酶片段长度多态性( PCR-RFLP)法检测该地区105例RA患者和96名健康者的PADI4 92基因型并与先前报道的PADI4其他位点进行连锁不平衡分析,构建单倍型,进行相关性分析.采用Pearson x2检验及Woolf方法计算并相对危险度及95％可信区间(95％CI).结果 3个位点的碱基均存在二态性,通过对padi4_92、padi4_ 94、padi4_104 3个位点的连锁不平衡分析,构建成5种主要功能单倍体,功能单倍体CCC和GTT所占频率达到了80％,并且均与RA的发病存在相关性.功能单倍体GCC虽然所占频率不到10％,但是却与RA的发病有着强烈的关联,分布明显趋向病例组.结论 PADI4基因SNP单核苷酸多态性以及基因功能单倍体表达多样性均与河北汉族人群RA易感性相关.
목적 탐토4형태선기정안산탈아알매( PADI4)단핵감산다태성(SNP)여중국하북한족인군류풍습관절염(RA)역감성적관계.방법 채용병례-대조연구방법,용취합매련반응-한제성내절매편단장도다태성( PCR-RFLP)법검측해지구105례RA환자화96명건강자적PADI4 92기인형병여선전보도적PADI4기타위점진행련쇄불평형분석,구건단배형,진행상관성분석.채용Pearson x2검험급Woolf방법계산병상대위험도급95％가신구간(95％CI).결과 3개위점적감기균존재이태성,통과대padi4_92、padi4_ 94、padi4_104 3개위점적련쇄불평형분석,구건성5충주요공능단배체,공능단배체CCC화GTT소점빈솔체도료80％,병차균여RA적발병존재상관성.공능단배체GCC수연소점빈솔불도10％,단시각여RA적발병유착강렬적관련,분포명현추향병례조.결론 PADI4기인SNP단핵감산다태성이급기인공능단배체표체다양성균여하북한족인군RA역감성상관.
Objective To elucidate the association of the susceptibility for rheumatoid arthritis ( RA )and peptidylarginine deiminase 4(PADI4) genetic single nucleotide polymorphism (SNP) in Han population in Hebei province.Methods This hospital-based ease-control study included 105 untreated RA patients and 96 healthy controls.The genotypes and allele frequencies of padi4_92 gene polymorphisms were analyzed by PCR-RFLP method,and the analysis of linkage disequilibrium and haplotype construction were performed for padi4_92,padi4_94 and padi4_104 SNPs.The Peason Chi-square test and Woolf statistic method were used to analyze the odds ration (OR) and 95％ confidence interval (95％CI).Results Significant differences in the frequency of PADI4 alleles and genotypes between the cases and controls were observed.The combined effect of padi4_92,padi4_94 and padi4_104 SNPs was analyzed by SHEsis snd Genehunter software,and got three haplotypes,CCC,GTT and GCC.There was significant difference in haplotypes distribution of 3 SNPs of padi4 between the two groups.This analysis of haplotypes revealed that haplotype of PADI4 was a risk factor for RA The ORs for these three haplotypes for RA susceptibility were 0.634 (95％CI=0.425-0.946),1.306 (95％CI=0.864-1.975),4.286 (95％CI=1.274-14.424),respectively.Conclnsion The SNPs of PADI4 may contribute to genetic susceptibility to RA in Han population in Hebei Province.