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中国大陆人群中性粒细胞胞浆因子 2 单核苷酸多态性与系统性红斑狼疮的相关性。

The association between single-nucleotide polymorphisms of NCF2 and systemic lupus erythematosus in Chinese mainland population.

机构信息

Shenzhen Key Lab for Translational Medicine of Dermatology, Shenzhen-PKU-HKUST Medical Center, Shenzhen, Guangdong, China, 518036.

出版信息

Clin Rheumatol. 2011 Apr;30(4):521-7. doi: 10.1007/s10067-010-1567-3. Epub 2010 Sep 15.

Abstract

Systemic lupus erythematosus (SLE) is a complex immune disease. The genetic variation in the NCF2 gene was found to associate with SLE in US and European populations. However, the association of rs10911363 with SLE was not extensively studied in Chinese mainland population. A total of 488 SLE patients and 380 controls were recruited. Unlabeled probe-based high-resolution melting analysis (HRMA) was used in genotyping. HRMA with unlabeled probe successfully distinguished all genotypes. Neither genotype nor allele frequencies of single-nucleotide polymorphism (SNP) rs10911363 showed statistically significant differences between SLE patients and controls. The association of SNP rs10911363 with the diagnostic criteria of SLE was also examined. Minor allele (G) of rs10911363 was found to significantly associate with the incidence of arthritis (p = 0.024, odds ratio (OR) = 1.35, and 95% confidence interval (CI) = 1.04-1.75) and increased abnormalities of antinuclear antibody (p = 0.002, OR = 1.51, and 95%CI = 1.17-1.95) and anti-DNA (p = 0.013, OR = 1.40, and 95%CI = 1.07-1.82). Polymorphisms of rs13277113 in NCF2 gene were associated with arthritis and autoantibody production, but not disease risk, of SLE in Chinese population.

摘要

系统性红斑狼疮(SLE)是一种复杂的免疫性疾病。在美国和欧洲人群中发现,NCF2 基因的遗传变异与 SLE 有关。然而,在中国人群中,关于 rs10911363 与 SLE 的关联尚未得到广泛研究。共招募了 488 例 SLE 患者和 380 例对照。采用无标记探针高分辨率熔解分析(HRMA)进行基因分型。无标记探针 HRMA 成功地区分了所有基因型。SNP rs10911363 的基因型和等位基因频率在 SLE 患者和对照组之间均无统计学差异。还检查了 SNP rs10911363 与 SLE 诊断标准的关联。发现 SNP rs10911363 的次要等位基因(G)与关节炎的发生率显著相关(p=0.024,优势比(OR)=1.35,95%置信区间(CI)=1.04-1.75),并且抗核抗体(p=0.002,OR=1.51,95%CI=1.17-1.95)和抗-DNA(p=0.013,OR=1.40,95%CI=1.07-1.82)的异常增加。NCF2 基因中的 rs13277113 多态性与关节炎和自身抗体的产生有关,但与中国人群中 SLE 的疾病风险无关。

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