Polymerase chain reaction based C4AQ0 and C4BQ0 genotyping: association with systemic lupus erythematosus in southwest Han Chinese
文献类型：期刊论文
| 作者 | Man XY1,2; Luo HR1; Mao CZ2; Li XP2; Yao YG1; Zhang YP[*]1 |
| 刊名 | ANNALS OF THE RHEUMATIC DISEASES
 |
| 出版日期 | 2009 |
| 卷号 | 62期号:1页码:71-73 |
| 通讯作者 | Zhangyp@public.km.yn.cn |
| 英文摘要 | Objective: To investigate the association of complement C4 null genes (C4QO, including C4AQO and C4BQO) and C2 gene with systemic lupus erythematosus (SLE) in southwest Han Chinese; 136 patients with SLE and 174 matched controls were genotyped. Methods: C4 null genes were determined by a polymerase chain reaction (PCR) procedure with sequence specific primers (PCR-SSP). The 2 bp insertion in exon 29, which was previously identified in non-Chinese populations and caused defective C4A genes, was directly typed by sequencing the whole exon 29 using exon specific primers. The exon 6 of complement C2 was also sequenced in both the patients and controls. Results: The frequency of homozygous C4AQO allele was 12.5% (17/136) in patients with SLE compared with 1.1% (2/174) in controls (p<0.001, odds ratio (OR)=12.286, 95% confidence interval (95% CI) 2.786 to 54.170). There was no significant difference for homozygous C4BQO allele between patients with SLE and controls (p=0.699). Patients with the C4AQO gene had an increased risk of acquiring renal disorder, serositis, and anti-dsDNA antibodies compared with those without C4AQO (for renal disorder, p=0.018, OR=8.951, 95% Cl 1.132 to 70.804; for serositis, p=0.011, OR 4.891, 95% CI 1.574 to 15.198; for anti-dsDNA, p=0.004, OR 7.630, 95%Cl 1.636 to 35.584). None of the patients or controls had the 2 bp insertion in exon 29 of the C4 gene. The type I C2 deficiency was not detected in the 3 10 samples. Conclusion: It is suggested that deficiency of C4A (not due to a 2 bp insertion in exon 29), but not C4B or C2, may be a risk factor for acquiring SLE in south west Han Chinese; this results in increased risk of renal disorder, serositis, and anti-dsDNA antibodies in patients with SLE. Racial differences seem to be relevant in susceptibility to SLE. |
| 收录类别 | SCI |
| 资助信息 | This work was supported by the Natural Sciences Foundation of China. |
| 语种 | 英语 |
| 源URL | [http://159.226.149.26:8080/handle/152453/11056]  |
| 专题 | 昆明动物研究所_分子进化基因组学 昆明动物研究所_重大疾病机理的遗传学 昆明动物研究所_细胞与分子进化开放实验室 |
| 作者单位 | 1.aboratory of Molecular Evolution and Genome Diversity, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, 650223, People’s Republic of China 2.Affiliated Hospital, Kunming Medical University, Kunming, Yunnan, 650101, People’s Republic of China |
| 推荐引用方式 GB/T 7714 | Man XY,Luo HR,Mao CZ,et al. Polymerase chain reaction based C4AQ0 and C4BQ0 genotyping: association with systemic lupus erythematosus in southwest Han Chinese[J]. ANNALS OF THE RHEUMATIC DISEASES,2009,62(1):71-73. |
| APA | Man XY,Luo HR,Mao CZ,Li XP,Yao YG,&Zhang YP[*].(2009).Polymerase chain reaction based C4AQ0 and C4BQ0 genotyping: association with systemic lupus erythematosus in southwest Han Chinese.ANNALS OF THE RHEUMATIC DISEASES,62(1),71-73. |
| MLA | Man XY,et al."Polymerase chain reaction based C4AQ0 and C4BQ0 genotyping: association with systemic lupus erythematosus in southwest Han Chinese".ANNALS OF THE RHEUMATIC DISEASES 62.1(2009):71-73. |
入库方式： OAI收割
来源：昆明动物研究所
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