ASSOCIATION OF B-CELL LYMPHOMA 2 (BCL2) GENE SNP WITH SUSCEPTIBILITY TO ALZHEIMER’S DISEASE

Abstract

Alzheimer's disease (AD) is neurodegenerative disorder characterized by a gradual and severe deterioration in cognitive abilities along with behavioral symptoms. Genes expression play a vital role in the development of Alzheimer’s disease and can serve as specific diagnostic biomarkers. Recent studies showed that increased expression of BCL2 protein promotes axon regeneration and provides protection by regulating cellular resilience and apoptosis pathways. On the basis of such studies, BCL2 gene is suggested to be a target for early detection and therapeutic intervention in AD. Therefore, this study was planned to evaluate the association of B-cell lymphoma 2 (BCL2) gene single nucleotide polymorphism (SNP) rs921884063 with susceptibility to Alzheimer’s disease. The case control-based study divided the subjects into two groups 1) Age and Gender matched controls (n=21), 2) AD Patients (n=20). These patients were taken after assessment of cognitive abilities and behavioral symptoms and were further investigated for gene single nucleotide polymorphism of BCL2. This study has explored the association of B-cell lymphoma 2 (BCL2) gene single nucleotide polymorphism (SNP) rs921884063 in AD for making prognosis and early diagnosis. The Chi square test was used for analysis which showed a significant association of BCL2 SNP rs921884063 with progression of Alzheimer’s disease (p= 0.001). Odds ratio revealed that targeted SNP has significant association with the increased risk of Alzheimer’s disease [3.9947, CI 95% (2.0774-7.6812 p<0.001)]. The association of genotype was analyzed by applying genotype models which confirmed that the heterozygous G/A genotype showed significant protective role against the development of disease in codominant [OR CI95%=0.21, (0.05-0.83, p<0.01)], dominant [OR CI95%=0.71, (0.04-0.65, p<0.01)], and over dominant models [OR CI95%=0.3, (0.09-1.19, p<0.05)]. In this study the genotype G/A showed a significant protective role against the disease. The study concluded detection of a genetic marker for progression of AD will help in developing therapeutic strategies for treatment and management of disease