SBSPON gene variant rs2291219 linked to higher T2DM risk in Northwest Indian population

BackgroundThe study for the first time evaluates the association of the Somatomedin B and Thrombospondin Type 1 Domain Containing (SBSPON) gene with Type 2 Diabetes Mellitus (T2DM) in the Northwest Indian population. The present study investigates the expression profile of the gene, the association of variant rs2291219 with T2DM and its potential functional impact and relationship with leukocyte telomere length.MethodsThe study is a case-control candidate gene association. The association of the SBSPON gene with T2DM risk was assessed using Gene expression, TaqMan genotyping, and in silico methods were employed to explore the potential functional effects of the variant. Additionally, the relationship between T2DM and leukocyte telomere length attrition was also examined.ResultsIndividuals with T2DM exhibited significantly higher expression levels compared to healthy controls. rs2291219 showed a significant association with T2DM (p = 0.02, OR 1.48, 95% CI: 1.06-2.07). The study indicates a higher risk among younger individuals. In silico analyses suggested a functional role for the variant. Individuals with T2DM who carried the risk allele showed shorter telomere length compared to healthy individuals (p = 0.004).ConclusionThis study provides evidence of SBSPON gene association with an increased risk of T2DM along with telomere length attrition. It could lay the groundwork for future research studies in a larger cohort. A potential role of SBSPON in the etiology of T2DM highlights the need for evaluation of genes in metabolic and other pathways apart from insulin.