Kang Min, Wang Hong-Wei, Cheng Pei-Xuan, Yin Zun-Dong, Li Xiao-Ou, Shi Hong, Hu Xiu-Fen
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Hua Zhong University of Science and Technology, 1095 Jie Fang Avenue, Wuhan 430030, Hubei Province, China.
Arthritis Res Ther. 2006;8(4):R85. doi: 10.1186/ar1953.
Many studies have reported that polymorphisms of the mannose-binding lectin (MBL) gene are associated with autoimmune disease. Here, we investigate the relationship between MBL gene polymorphisms and susceptibility to juvenile idiopathic arthritis (JIA) in a Han-nationality population from the Hubei province of China. PCR-restriction fragment length polymorphism was used to investigate polymorphisms of codons 54 and 57 in exon 1 of the MBL gene in 93 patients with JIA and 48 control children. Neither group showed codon 57 polymorphisms. There was no significant difference in the genotypic frequencies of codon 54 between patients with JIA and healthy controls (wild type, 71.0% versus 75.0%, respectively; heterozygous type, 25.8% versus 25.0%, respectively; and homozygous type, 3.2% versus 0.0%, respectively). In addition, no association was found between the subgroups of patients with JIA and control individuals. Our results provide no evidence for a relationship between MBL gene mutation and susceptibility to JIA.
许多研究报告称,甘露糖结合凝集素(MBL)基因多态性与自身免疫性疾病有关。在此,我们调查了中国湖北省汉族人群中MBL基因多态性与幼年特发性关节炎(JIA)易感性之间的关系。采用聚合酶链反应-限制性片段长度多态性方法,对93例JIA患者和48例对照儿童的MBL基因外显子1中第54和57密码子的多态性进行了研究。两组均未显示第57密码子多态性。JIA患者和健康对照者第54密码子的基因型频率无显著差异(野生型分别为71.0%和75.0%;杂合型分别为25.8%和25.0%;纯合型分别为3.2%和0.0%)。此外,在JIA患者亚组与对照个体之间未发现关联。我们的结果没有为MBL基因突变与JIA易感性之间的关系提供证据。