Al-Eitan Laith N, Aman Hatem, Alkhatib Rami, Alghamdi Mansour A
Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan.
Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid 22110, Jordan.
Diabetes Metab Syndr Obes. 2020 May 22;13:1825-1834. doi: 10.2147/DMSO.S245843. eCollection 2020.
To investigate the genotypic and allelic association of Src homology 2 B adapter protein 1 ( gene polymorphisms with type 2 diabetes mellitus (T2DM) in Jordanian patients.
Three hundred patients were screened, but only 200 adult Jordanian patients diagnosed with T2DM (53.5% male and 46.5% female) have participated in this study. Blood samples were collected from both patients and healthy individuals for DNA extraction according to well-established procedures. Exon 1 and exon 9 of the gene were sequenced using an efficient and sensitive DNA sequencing method in order to identify specific single nucleotide polymorphisms (SNPs) in the gene associated with T2DM. Genetic and haplotype correlation analysis was performed for the chosen SNPs to detect any association if existent. In addition, SNPStats Web Tool and Hardy-Weinberg equilibrium (HWE) analyses for the genotype distribution were used. The significance was determined according to the -value, and the level of significance taken as P < 0.05. The normality of the data distribution was statically analysed by the Shapiro-Wilk test with a -value >0.05. Also, the patient's characteristics and clinical data about all participants were mentioned.
Two novel variations were present in the gene in Jordanian patients with T2DM: c.827C>G and c.2026G>A, and previously reported five SNPs: rs146946750, rs565131715, rs370302573, rs143212778, rs200470848. Our results showed a strong genetic association of rs565131715 SNP polymorphism within the gene in T2DM patients ( test, < 0.001). Additionally, rs143212778 SNP presented a genetic correlation with T2DM patients ( test, = 0.035) as compared to control individuals. GTACG haplotype of has a highly significant association with responders (P< 0.0001).
Our findings indicated a strong association between the rs565131715 polymorphism and the risk of T2DM among the Jordanian population. Moreover, our data showed that the rs143212778 polymorphism significantly elevated the danger of T2DM among this population. This study reveals the first data regarding the gene polymorphisms in Jordanian patients of Arab descent with diabetes.
研究Src同源2B衔接蛋白1（ ）基因多态性与约旦患者2型糖尿病（T2DM）的基因型和等位基因关联。
筛查了300例患者，但只有200例成年约旦T2DM患者（男性占53.5%，女性占46.5%）参与了本研究。按照既定程序从患者和健康个体中采集血样用于DNA提取。使用高效灵敏的DNA测序方法对 基因的外显子1和外显子9进行测序，以鉴定与T2DM相关的 基因中的特定单核苷酸多态性（SNP）。对所选SNP进行遗传和单倍型相关性分析，以检测是否存在任何关联。此外，使用SNPStats网络工具和Hardy-Weinberg平衡（HWE）分析基因型分布。根据P值确定显著性，显著性水平设定为P < 0.05。通过Shapiro-Wilk检验对数据分布的正态性进行统计学分析，P值>0.05。还提及了所有参与者的患者特征和临床数据。
约旦T2DM患者的 基因中存在两个新变异：c.827C>G和c.2026G>A，以及先前报道的五个SNP：rs146946750、rs565131715、rs370302573、rs143212778、rs200470848。我们的结果显示，T2DM患者中 基因内的rs565131715 SNP多态性存在强遗传关联（检验，P < 0.001）。此外，与对照个体相比，rs143212778 SNP与T2DM患者存在遗传相关性（检验，P = 0.035）。 的GTACG单倍型与反应者有高度显著关联（P<0.0001）。
我们的研究结果表明，rs565131715多态性与约旦人群中T2DM的风险之间存在强关联。此外，我们的数据表明，rs143212778多态性显著增加了该人群中T2DM的风险。本研究揭示了关于阿拉伯血统约旦糖尿病患者 基因多态性的首批数据。
