Genetic association of ABCA1 gene polymorphism (rs1800977 & rs2230806) and susceptibility to type 2 diabetes mellitus in South Indian cohort

Abstract Background Type 2 diabetes mellitus is a chronic metabolic condition characterized by persistent hyperglycaemia due to insufficient insulin production, often accompanied by disruptions in carbohydrate, fat, and protein metabolism. The ATP-binding cassette transporter A1 ( ABCA1 ) plays a pivotal role in maintaining cholesterol homeostasis by mediating reverse cholesterol transport. This study investigates the genetic association of ABCA1 variants: rs1800977 (C/T) and rs2230806 (C/T) with T2DM in the South Indian population. Aim To analyse the association of single nucleotide polymorphism of ABCA1 and Type 2 diabetes mellitus in South Indian population. Genotyping was conducted using PCR-RFLP on a combined sample of 300 participants, comprising T2DM cases and healthy controls. Statistical analysis was conducted using Epi-Info software v.7.0 to assess the risk associated with different genotypes and p-value. Results For rs1800977, the TT genotype was significantly associated with increased T2DM risk whereas the heterozygous CT showed higher significance in case of rs2230806. A significant OR was observed in TT genotype of rs1800977 [2.1 (1.19–3.89)] and CT genotype of rs2230806 [2.20 (1.30–3.69)] with 95% CI. Conclusion These findings underscore the role of ABCA1 gene polymorphisms as genetic markers for T2DM susceptibility. Both rs1800977 and rs2230806 variants exhibit potential utility in disease prognosis, prediction, and therapeutic management, highlighting the importance of personalized approaches in metabolic disorders like T2DM. Further studies are necessary to explore the functional implications of these polymorphisms in diverse populations. These findings also have potential clinical implications for improving prognosis and prevention strategies in the South Indian population.