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Divya kanchi

 

Divya kanchi

Government Medical college, India

Abstract Title:

Association of Cubulin (CUBN) and Megalin (LRP2) Gene Polymorphisms with Type 2 Diabetes Mellitus in an Indian Cohort

Research Interests:

Background: Type 2 diabetes mellitus (T2DM) is a major global endocrinopathy with a complex, evolving genetic architecture. Genetic variations, including single nucleotide polymorphisms (SNPs) in the cubulin (CUBN) and megalin (LRP2) genes, are critical factors influencing genotype-phenotype correlations and the clinical course of diabetes. Since genetic data for these loci are sparse within the Indian subcontinent, we evaluated the prevalence and clinical significance of CUBN and LRP2 polymorphisms in T2DM patients compared to healthy controls. Methods: This prospective case-control study utilized dual-primer sets to screen for specific SNPs in the CUBN (rs1801222, rs11254363) and LRP2 (rs3755166, rs2544390) genes among T2DM subjects and healthy controls. Results: Distinct genotype shifts were observed between cohorts. For CUBN, the genotype frequencies (AA, AG, GG) were 12.5%, 62.5%, and 25.0% in cases versus 70.0%, 20.0%, and 10.0% in controls. The corresponding CUBN allele frequencies (A vs. G) were 0.44 vs. 0.56 in cases and 0.80 vs. 0.20 in controls, demonstrating statistical significance. For LRP2, the genotype frequencies (CC, CT, TT) were 47.5%, 50.0%, and 2.5% in cases versus 60.0%, 30.0%, and 10.0% in controls. The corresponding allele frequencies (C vs. T) were 0.73 vs. 0.27 in cases and 0.75 vs. 0.25 in controls, showing no statistically significant difference. Conclusions: CUBN gene variations significantly modulate T2DM susceptibility in this Indian cohort. The AA genotype (OR=0.06) and A allele (OR=0.19) exert a strong protective effect against the disease. Conversely, the AG genotype and G allele demonstrate a 7-fold and 5-fold increased risk for T2DM, respectively. No protective or predisposing genetic roles were identified for the evaluated LRP2 variants. Keywords: Diabetes, Cubulin gene, Megalin gene, Single nucleotide polymorphism, Genetics.