Araujo Jacqueline, Brandão Lucas A C, Guimarães Rafael L, Santos Sérgio, Falcão Elcy A, Milanese Michele, Segat Ludovica, Souza Paulo R, de Lima-Filho José Luiz, Crovella Sergio
Pediatric Endocrinology Unit of Clinical Hospital, Federal University of Pernambuco and Maternal and Children's Institute of Pernambuco, Recife, Brazil.
Hum Immunol. 2007 Sep;68(9):739-43. doi: 10.1016/j.humimm.2007.05.007. Epub 2007 Jun 21.
Mannose-binding lectin is an important constituent of the innate immune system, the serum levels of which are greatly affected by polymorphisms of the MBL2 gene: three polymorphisms in exon 1, as well as nucleotide variations in the promoter region of the gene, have been associated with protein deficiency and some infectious and autoimmune disease. The aim of this study was to investigate a possible association between MBL2 gene polymorphisms in patients who have developed type 1 diabetes during childhood and adolescence. We evaluated MBL2 gene polymorphisms in 214 children and adolescents with type 1 diabetes and compared them with a healthy control group, finding significant differences in genotypic and allelic frequencies (p = 0.004 and p = 0.0008, respectively). Our results suggest that patients with type 1 diabetes possessing the 0 allele have a higher risk for developing type 1 diabetes during childhood and adolescence, and that this risk factor is not related to age at diagnosis.
甘露糖结合凝集素是天然免疫系统的重要组成部分,其血清水平受MBL2基因多态性的显著影响:外显子1中的三种多态性以及该基因启动子区域的核苷酸变异,均与蛋白质缺乏以及一些感染性和自身免疫性疾病相关。本研究的目的是调查在儿童期和青春期患1型糖尿病的患者中MBL2基因多态性之间可能存在的关联。我们评估了214例1型糖尿病儿童和青少年的MBL2基因多态性,并将其与健康对照组进行比较,发现基因型和等位基因频率存在显著差异(分别为p = 0.004和p = 0.0008)。我们的结果表明,携带0等位基因的1型糖尿病患者在儿童期和青春期患1型糖尿病的风险更高,并且该风险因素与诊断时的年龄无关。