Common DNase I polymorphism associated with autoantibody production among systemic lupus erythematosus patients.
Common DNase I polymorphism associated with autoantibody production among systemic lupus erythematosus patients.
复制标题
系统性红斑狼疮患者中常见的 DNase I 多态性与自身抗体产生相关。
作者：
H. Shin;B. Park;L. Kim;Hye;T. Kim;S. Bae
DNase I可能是最重要的核酸酶，用于从高细胞周转部位的核抗原中去除DNA，因此也可能预防系统性红斑狼疮（SLE）。通过DNA直接测序鉴定出16个snp，根据snp之间的连锁不平衡、频率、位置和单倍型标记状态，在更大规模的调查中选择6个snp进行基因分型。在韩国人群（350例SLE患者和330例对照）中，研究了DNase I多态性与SLE风险和常见自身抗体产生的遗传关联。虽然没有发现与SLE风险的显著相关性，但逻辑回归分析显示，外显子8中的一个非同义snp +2373A b> G（Gln244Arg）与SLE患者产生抗rnp和抗dsdna抗体的风险增加显著相关。纯合次要等位基因（Arg/Arg）在有抗rnp抗体的患者中出现的频率（31.3%）明显高于无抗rnp抗体的患者（14.4%）（P=0.0006， OR=2.86）。此外，在两名日本SLE患者中报道的DNase外显子2的A/T突变在我们韩国人群中的SLE患者（n=350）或对照组（n=330）中不存在，结合先前报道的结果，强烈表明该突变不存在于三个主要种族群体：高加索人、非洲人和亚洲人。
DNase I could be the most important nuclease for the removal of DNA from nuclear antigens at sites of high cell turnover, and thus may also prevent systemic lupus erythematosus (SLE). Sixteen SNPs were identified by direct DNA sequencing, among which six were selected for genotyping in a larger investigation on the basis of linkage disequilibria among SNPs, their frequency, location and haplotype tagging status. Genetic associations of polymorphisms in DNase I with the risk of SLE and the production of common autoantibodies were examined in a Korean population (350 SLE patients and 330 controls). Although no significant associations with the risk of SLE were found, logistic regression analyses revealed that one non-synonymous SNPs in exon 8, +2373A>G(Gln244Arg), was significantly associated with an increased risk of the production of anti-RNP and anti-dsDNA antibodies among SLE patients. The frequency of the homozygous minor allele (Arg/Arg) was much higher in patients who had the anti-RNP antibody (31.3%) than in patients who did not have this antibody (14.4%) (P=0.0006, OR=2.86). In addition, the A/T mutation in exon 2 of DNase reported in two Japanese SLE patients was not present in SLE patients (n=350) or controls (n=330) in our Korean population, which combined with the results of previous reports strongly suggests that the mutation is not present in three major ethnic groups: Caucasian, African and Asian.
影响因子：
9.8
作者：
Schaid, DJ;Rowland, CM;Poland, GA
通讯作者：
Poland, GA