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
