Detailed analysis of the variability of peptidylarginine deiminase type 4 in German patients with rheumatoid arthritis: a case-control study.
Detailed analysis of the variability of peptidylarginine deiminase type 4 in German patients with rheumatoid arthritis: a case-control study.
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DOI：
10.1186/ar1889
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发表时间：
2006
影响因子：
4.9
通讯作者：
Dörner T
中科院分区：
文献类型：
--
作者：
Hoppe B;Häupl T;Gruber R;Kiesewetter H;Burmester GR;Salama A;Dörner T
肽基精氨酸脱亚胺酶4型（PADI 4）基因型被证明影响日本人群对类风湿性关节炎（RA）的易感性。这种关联以前不能在不同的欧洲人群中得到证实。在本研究中，我们分析了102名德国RA患者和102名健康个体的PADI 4外显子2-4，通过单倍型特异性DNA测序研究PADI 4变异对RA易感性的影响。分析PADI 4和HLA-DRB 1基因型对疾病活动性和抗环瓜氨酸肽抗体水平的影响。比较PADI 4单倍型4的频率（padi4_89*G、padi4_90*T、padi4_92*G、padi4_94*T、padi4_104*C、padi4_95*G、padi4_96*T）（患者，14.7%;对照，7.8%;比值比= 2.0，95%置信区间= 1.1-3.8）和该单倍型的携带者（患者，27.5%;对照，13.7%;比值比= 2.4，95%置信区间= 1.2-4.8），可以证明PADI 4单倍型4与RA的显著正相关。其他PADI 4单倍型在患者和对照组之间没有显著差异。关于单个PADI 4变体，padi4_89（A→G）、padi4_90（C→T）和padi4_94（C→T）与RA显著相关（患者，49.5%;对照，38.7%;比值比= 1.6，95%置信区间= 1.1-2.3）。考虑到位于外显子2、3和4中或附近的新型PADI 4变体，RA患者（8.8%）和健康对照（10.8%）之间没有定量或定性差异。虽然PADI 4基因型不影响疾病活动和抗环瓜氨酸肽抗体水平，但HLA-DRB 1共享表位的存在与较高的抗环瓜氨酸肽抗体水平显著相关（P = 0.033）。这项小型病例对照研究的结果支持了这一假设，即PADI 4基因的变异性可能影响德国人群对RA的易感性。无法证明患者和对照之间先前未定义的PADI 4变体的定量或定性差异。
Peptidylarginine deiminase type 4 (PADI4) genotypes were shown to influence susceptibility to rheumatoid arthritis (RA) in the Japanese population. Such an association could not previously be confirmed in different European populations. In the present study, we analysed exons 2–4 of PADI4 in 102 German RA patients and 102 healthy individuals to study the influence of PADI4 variability on RA susceptibility by means of haplotype-specific DNA sequencing. Analyses of the influence of PADI4 and HLA-DRB1 genotypes on disease activity and on levels of anti-cyclic citrullinated peptide antibodies were performed. Comparing the frequencies of PADI4 haplotype 4 (padi4_89*G, padi4_90*T, padi4_92*G, padi4_94*T, padi4_104*C, padi4_95*G, padi4_96*T) (patients, 14.7%; controls, 7.8%; odds ratio = 2.0, 95% confidence interval = 1.1–3.8) and carriers of this haplotype (patients, 27.5%; controls, 13.7%; odds ratio = 2.4, 95% confidence interval = 1.2–4.8), a significant positive association of PADI4 haplotype 4 with RA could be demonstrated. Other PADI4 haplotypes did not differ significantly between patients and controls. Regarding the individual PADI4 variants, padi4_89 (A→G), padi4_90 (C→T), and padi4_94 (C→T) were significantly associated with RA (patients, 49.5%; controls, 38.7%; odds ratio = 1.6, 95% confidence interval = 1.1–2.3). Considering novel PADI4 variants located in or near to exons 2, 3, and 4, no quantitative or qualitative differences between RA patients (8.8%) and healthy controls (10.8%) could be demonstrated. While the PADI4 genotype did not influence disease activity and the anti-cyclic citrullinated peptide antibody level, the presence of the HLA-DRB1 shared epitope was significantly associated with higher anti-cyclic citrullinated peptide antibody levels (P = 0.033). The results of this small case–control study support the hypothesis that variability of the PADI4 gene may influence susceptibility to RA in the German population. Quantitative or qualitative differences in previously undefined PADI4 variants between patients and controls could not be demonstrated.
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影响因子：
3.5
作者：
Chavanas, S;Méchin, MC;Simon, M
通讯作者：
Simon, M
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