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Genetic & Genomic MedicinemedRxiv
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Evaluation of Apolipoprotein e4 allele as susceptible factor for neurodegenerative diseases among Eastern Indians

Dipanwita SadhukhaniD, Smriti MishraiD, Priyanka Mukherjee, Atanu BiswasiD, Subhra Prakash HuiiD, Tapas Kumar BanerjeeiD, Arindam Biswas

Abstract

IntroductionApolipoprotein E (ApoE) and age have been identified as the major risk factors for several neurodegenerative disorders. Among the three major isoforms (ApoE2, ApoE3 & ApoE4) of APOE, ApoE4 often shows ethnicity dependent association with neurodegenerative diseases. In the present study, we aim to determine the e4 allele/genotype frequency among the different neurodegenerative disorders and their correlation with several demographic and clinical parameters from eastern India. Material & MethodsA total of 826 individuals were recruited for this study which includes 128 PD-MCI, 144 PDD, 90 DLB, 114 FTD, 94 AD and 256 unrelated neurologically controls from eastern India. Subjects were analysed for APOE genotype (E2, E3 and E4) by PCR-RFLP techniques and Sanger sequencing. ResultsThe APOE4 allele was significantly associated with each of the disease subtypes, selected for the study (P = 0.016 to 0.000), while e3 allele was predominant among controls. Further stratification of subjects identified significant overrepresentation of (a) positive family history for FTD (P = 0.0414) & AD (P = 0.029) and (b) early age at onset of for PDD (P = 0.0316) and FTD (P = 0.0034) among the e4 allele carriers. Furthermore, lowering of BMSE score was also observed among the e4 allele carriers of AD subjects (P = 0.0324). ConclusionThere is a significant association of APOE4 allele with different neurodegenerative diseases influencing lowering of age at onset, BMSE score and positive family history among ethnic Bengali population of eastern India.

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02 /Specification & Classification

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