Farago Bernadett, Kisfali Peter, Magyari Lili, Polgar Noemi, Melegh Bela
Department of Medical Genetics and Child Development, University of Pecs, Pecs 7624, Hungary.
Autoimmune Dis. 2010;2010:285974. doi: 10.4061/2010/285974. Epub 2009 Aug 27.
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.
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。
