肽酰基精氨酸脱亚胺酶4单核苷酸多态性与河北汉族人群类风湿关节炎的相关性研究  

The association between rheumatoid arthritis and single nucleotide polymorphisms of peptidylarginine dehninase 4 in Han population of Hebei province

作　　者：冯忠军[1] 张淑兰[2] 梁芸[3] 闻海丰[1] 牛艳丽[1] 

机构地区：[1]河北医科大学第三医院检验科,石家庄050051 [2]石家庄市中医院检验科 [3]石家庄市第一人民医院榆验科

出　　处：《中华风湿病学杂志》2008年第11期768-770,共3页Chinese Journal of Rheumatology

基　　金：河北省科技厅2007年科研与发展指导计划项目（072761227）

摘　　要：目的研究肽酰基精氨酸脱亚胺酶（PADI）4基因padi4_94位点及padi4_104位点的单核苷酸多态性（SNP）与河北汉族人群类风湿关节炎（RA）易感性的关系。方法采用基于医院的病例-对照研究方法，收集河北地区汉族人群无血缘关系的115例RA患者和年龄、性别相当的106名健康体检者的外周血，用DNA测序法对PADI4基因第三内含子区域padi4_94位点及第四外显子区域padi4_104位点2个SNP进行检测。结果在两组人群中，padi4_94及padi4_104的基因型分布均符合Hardv—Weinberg平衡。两个SNP位点构建单倍型，得到3个单倍型，分别为AA、AG和GG，没有GA型。两SNP的AA、AG、GG基因型和A、G等位基因分布在RA病例组与健康对照组相比差异均无统计学意义，经Logistic回归分析无一单倍型为影响RA患病的危险因素。结论在河北汉族人群中，PADI4基因的padi4_94、padi4_104位点存在SNP，此多态性与RA的易感性可能不存在相关性，尚不足以构成RA的独立遗传因素。Objective To study the association of peptidylarginine deiminase 4 （PADI4） （padi4_94 and padi4_104） genetic single nucleotide polymorphism （SNP） and rheumatoid arthritis （RA） susceptibility in Han population of Hebei province. Methods This hospital-based case-control study included 115 RA patients and 106 healthy controls. All the individuals were recruited from Han Hebei residents and were randomly selected. The genotype and allele frequencies of PADI4 gene polymorphisms （padi4_94 and padi4_104） were analyzed by PCR-DNA sequencing method. Results The distribution of padi4_94 and padi4_104 genotypes between the two groups was not significantly deviated from that expected by Hardy- Weinberg equilibrium （P〉0.05）. The combined effect of padi4_94 and padi4_104 SNPs was analyzed and three haplotypes （AA, AG and GG） were found but without GA haplotype. The genotype and allele distribution of padi4_94 and padi4_104 in the patients with RA was not significantly different from that in healthy controls, and the analysis of haplotypes revealed that no haplotypes were risk factors for RA. Conclusion In Han population of Hebei province, the SNPs of PADI4 （padi4_94 or/and padi4_104） is no associated with RA susceptibility. Therefore, it should not be regarded as a genetic risk factor for RA.

关 键 词：关节炎 类风湿 多态性 单核苷酸 肽酰基精氨酸脱亚胺酶4 

分 类 号：R686[医药卫生—骨科学]