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细胞毒性T淋巴细胞相关抗原+49G变异仅与CT60G等位基因联合时才会增加抗环瓜氨酸肽抗体和类风湿因子阳性型类风湿关节炎的发病风险。

Cytotoxic T lymphocyte-Associated Antigen +49G Variant Confers Risk for Anti-CCP- and Rheumatoid Factor-Positive Type of Rheumatoid Arthritis Only in Combination with CT60G Allele.

作者信息

Farago Bernadett, Kisfali Peter, Magyari Lili, Polgar Noemi, Melegh Bela

机构信息

Department of Medical Genetics and Child Development, University of Pecs, Pecs 7624, Hungary.

出版信息

Autoimmune Dis. 2010;2010:285974. doi: 10.4061/2010/285974. Epub 2009 Aug 27.

Abstract

Controversial observations have been published on the association of the cytotoxic T lymphocyte associated antigen gene's variants with rheumatoid arthritis (RA). After genotyping 428 patients and 230 matched controls, the prevalence of the CT60(∗)G allele was more frequent in RF- and/or anti-CCP-seropositive RApatients, compared to the healthy controls (P < .001). Regression analysis revealed that the CT60(∗)G allele is a possible predisposing factor for RA in these subgroups. No accumulation of the +49(∗)G allele was found among patients, and this variant was not found to correlate with RA. Assaying the possible genotype variations, the +49(∗)G-CT60(∗)G allelic combination was accumulated in seropositive RA-subtypes, and was associated with the risk of RA (OR = 1.73, P = .001 for the whole RA-population). Although the +49(∗)G allele did not mean a predisposition to RA alone, in combination with CT60(∗)G it, also conferred risk, suggesting that the +49A/G variant is associated with the risk of RA only in certain haplotypes.

摘要

关于细胞毒性T淋巴细胞相关抗原基因变异与类风湿性关节炎(RA)之间的关联,已有一些存在争议的观察结果发表。在对428例患者和230例匹配对照进行基因分型后,与健康对照相比,CT60()G等位基因在RF和/或抗CCP血清阳性的RA患者中更为常见(P < 0.001)。回归分析显示,CT60()G等位基因是这些亚组中RA的一个可能的易感因素。在患者中未发现+49()G等位基因的聚集,且该变异与RA无关。在检测可能的基因型变异时,+49()G-CT60()G等位基因组合在血清阳性的RA亚组中聚集,并与RA风险相关(整个RA人群的OR = 1.73,P = 0.001)。虽然+49()G等位基因单独并不意味着易患RA,但与CT60(*)G结合时也会增加风险,这表明+49A/G变异仅在某些单倍型中与RA风险相关。

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