Boëchat-Fernandes Alejandro, Réa Rosângela Roginski, Romanzini Nicole Balster, Gomes Marilia Brito, Furtado-Alle Lupe, Souza Ricardo L R
Department of Genetics, Federal University of Paraná, Curitiba, Paraná, Brazil.
Endocrinology and Metabolism Service, University Hospital of the Federal University of Paraná, Curitiba, Paraná, Brazil.
J Pediatr Genet. 2019 Mar;8(1):38-40. doi: 10.1055/s-0039-1677749. Epub 2019 Jan 30.
The aim of this study was to investigate the relationship of two single nucleotide polymorphisms (SNPs) in the interleukin-18 ( ) gene (rs187238, g.-137G > C; rs1946518, g.-607C > A) and one SNP of the gene (rs3212227 g.*159A > C, 3'UTR) with the age of onset for type 1 (DM1). A total of 1,101 patients with DM1 enrolled in 13 centers from different regions of Brazil were genotyped with TaqMan assay and classified according to the ancestry. Our results show that an SNP in gene could be associated with DM1 age onset, taking into account that this studied variation affects gene expression.
本研究旨在调查白细胞介素-18(IL-18)基因中的两个单核苷酸多态性(SNP)(rs187238,g.-137G>C;rs1946518,g.-607C>A)以及IL-18基因的一个SNP(rs3212227 g.*159A>C,3'非翻译区)与1型糖尿病(DM1)发病年龄的关系。对来自巴西不同地区13个中心的1101例DM1患者进行了TaqMan检测基因分型,并根据血统进行分类。我们的结果表明,考虑到所研究的变异会影响基因表达,IL-18基因中的一个SNP可能与DM1发病年龄有关。