摘要
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。方法采用病例一对照研究方法，用聚合酶链反应一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，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—1043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GTF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。
Objective To elucidate the association of the susceptibility for rheumatoid arthritis （RA） and peptidylarginine deiminase 4（PADI4） genetic single nueleotide polymorphism （SNP） in Hun population in Hebei province. Methods This hospital-based case-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 Genebunter software, and got three haplotypes, CCC, GrIT 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%C1=1.274-14.424）, respectively. Conclusion The SNPs of PADI4 may contribute to genetic susceptibility to RA in Han population in Hebei Province.
出处
《中华风湿病学杂志》
CAS
CSCD
北大核心
2012年第5期346-349,共4页
Chinese Journal of Rheumatology
基金
基金项目：河北省科技厅2007年科研与发展指导计划项目（072761227）
