Chua Kek-Heng, Puah Suat-Moi, Chew Ching-Hoong, Tan Si-Yen, Lian Lay-Hoong
Department of Molecular Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Ann Hum Biol. 2010 Apr;37(2):274-80. doi: 10.3109/03014460903325185.
In this study, we investigated the polymorphisms of the exon 1 (+49A/G), promoter sites (-1722T/C, -1661A/G, -318C/T), and 3'-untranslated region (3'-UTR) (+6230 A/G) of the CTLA-4 gene in systemic lupus erythematosus (SLE) affected patients. Polymerase chain reaction-restriction fragment length polymorphism was used to determine genotypes of these five markers in 130 SLE patients and 130 healthy controls. Of the five tested polymorphisms, there was no statistical significant difference between the genotypic and allelic frequencies of patients with SLE and controls. Hence, we propose that the CTLA-4 gene does not play a major role in the genetic susceptibility to the development of SLE in the Malaysian population.
在本研究中，我们调查了系统性红斑狼疮（SLE）患者中细胞毒性T淋巴细胞相关抗原4（CTLA-4）基因第1外显子（+49A/G）、启动子区域（-1722T/C、-1661A/G、-318C/T）以及3'非翻译区（3'-UTR）（+6230A/G）的多态性。采用聚合酶链反应-限制性片段长度多态性方法，对130例SLE患者和130例健康对照者的这五个标记进行基因分型。在所检测的五个多态性位点中，SLE患者与对照者的基因型和等位基因频率之间无统计学显著差异。因此，我们认为在马来西亚人群中，CTLA-4基因在SLE发病的遗传易感性中不起主要作用。
