Abu El-Ella S S, Khattab E S A E H, El-Mekkawy M S, El-Shamy A A
Department of Pediatrics, Faculty of Medicine, Menoufia University, Shebin El-Kom, 32511 Menoufia, Egypt.
Chemistry Department, Biochemistry division, Faculty of Science, Al-Azhar University, Cairo, Egypt.
Arch Pediatr. 2018 Aug;25(6):378-382. doi: 10.1016/j.arcped.2018.06.009. Epub 2018 Aug 23.
Genetic factors contribute significantly to type 1 diabetes (T1D) etiology. A single nucleotide polymorphism in the CD226 gene (rs763361 C>T) has been associated with T1D susceptibility in European patients, but data from other populations is limited. Our aim was to study the contribution of this polymorphism to T1D susceptibility among Egyptian children.
A case-control study including 74 children with T1D and 82 healthy children as a control group. Genotyping of CD226 gene polymorphism was performed for all participants by DNA extraction followed by polymerase chain reaction and restriction fragment length polymorphism.
The frequency of T allele was 78.4% in patients and 68.3% in controls (OR, 1.68; 95% CI, 1.01-2.8; P=0.046). TT, TC, and CC genotypes were found in 62.2%, 32.4%, and 5.4% of the patients, respectively, and in 41.5%, 53.7%, and 4.9% of controls, respectively. Under the recessive model, TT genotype was significantly associated with T1D risk (OR, 2.32; 95% CI, 1.21-4.41; P=0.010). The mean age at diabetes onset was significantly lower in patients carrying T allele compared with C allele (8.03±3.8 year vs. 10.5±2.54 year; P<0.001) and among those with TT genotype compared with the pooled TC+CC genotypes (7.5±2.6 year vs. 10.6±2.6 year; P<0.001). No significant difference was found between genotypes or alleles regarding the HbA1c level.
T allele and TT genotype of the CD226 rs763361 polymorphism is associated with susceptibility to T1D and with a lower age of disease onset among Egyptian children.
遗传因素在1型糖尿病（T1D）病因中起重要作用。CD226基因中的一个单核苷酸多态性（rs763361 C>T）与欧洲患者的T1D易感性相关，但其他人群的数据有限。我们的目的是研究这种多态性对埃及儿童T1D易感性的影响。
一项病例对照研究，纳入74例T1D儿童和82例健康儿童作为对照组。对所有参与者进行DNA提取，随后进行聚合酶链反应和限制性片段长度多态性分析，以对CD226基因多态性进行基因分型。
患者中T等位基因频率为78.4%，对照组为68.3%（比值比[OR]，1.68；95%置信区间[CI]，1.01 - 2.8；P = 0.046）。患者中TT、TC和CC基因型分别占62.2%、32.4%和5.4%，对照组中分别占41.5%、53.7%和4.9%。在隐性模型下，TT基因型与T1D风险显著相关（OR，2.32；95% CI，1.21 - 4.41；P = 0.010）。携带T等位基因的患者糖尿病发病的平均年龄显著低于携带C等位基因的患者（8.03±3.8岁 vs. 10.5±2.54岁；P < 0.001），TT基因型患者的糖尿病发病平均年龄低于TC + CC基因型患者合并组（7.5±2.6岁 vs. 10.6±2.6岁；P < 0.001）。在糖化血红蛋白（HbA1c）水平方面，基因型或等位基因之间未发现显著差异。
CD226 rs763361多态性的T等位基因和TT基因型与埃及儿童的T1D易感性相关，且与疾病发病年龄较低有关。
