Genetic polymorphism of HHEX rs1111875 in type 2 diabetes: Insights from a Jordanian case-control study
Keywords:
HHEX, , (rs1111875), , PolymorphismAbstract
Background and aim: Type 2 diabetes (T2D) is a complex disease predisposed by both genetic and environmental factors. Many genes related to β-cell function, glucose regulation, and insulin secretion play crucial roles in T2D development. Human genome studies identified several genetic variations associated with T2D among different populations, including HHEX rs1111875 gene polymorphism. This study aims to investigate the association between HHEX (rs1111875) genetic polymorphism and the risk of T2D among the studied Jordanians (n= 200). Methods: This case-control study enrolled 100 patients with T2D, and 100 age and sex-matched healthy control groups fulfilled the inclusion criteria, aged between 33-66 years, with 50% males and 50% females in each group. Both groups were genotyped for rs1111875 polymorphisms using the Real-time PCR Allelic Discrimination Assay technique. Results: A significant association was observed between the HHEX genotypes (AG, AA) and the increased risk of T2D (p = 0.012). According to allele frequency, A allele of HHEX rs1111875 was strongly associated with increased risk of T2D by approximately twofold (Odd Ratio (OR)= 1.98, 95% Confidence Interval (CI)= 1.30-3.02, p= 0.002). Based on the dominant model, having at least one A allele increases T2D risk by threefold (OR= 3.63, 95% CI= 1.50-8.80,
p = 0.003). This finding was confirmed in the overdominant model as the AG genotype increases T2D risk by twofold (OR= 2.88, 95% CI= 1.22-6.78, p-value= 0.014). Conclusions: HHEX rs1111875 A allele is significantly associated with increased T2D risk among Jordanians.
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