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MOLECULAR CHARACTERIZATION OF GENE ABCA1 ASSOCIATED WITH TYPE 2 DIABETES

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Author: ALEEM AHMED

Citable URI : https://vspace.vu.edu.pk/detail.aspx?id=154

Publisher : Virtual University

Date Issued: 11/8/2018 12:00:00 AM

Abstract

Diabetes Mellitus also known as hyperglycemia is a chronic metabolic disorder that is mainly characterized by a rise in the plasma glucose levels above the normal range, glucose intolerance and insulin resistance. There are various subtypes of diabetes mellitus of which type 2 diabetes mellitus (type 2 DM) previously also termed as non-insulin- dependent diabetes is the most prevalent form. World Health Organization (WHO) reports that 9% of the world population suffered from diabetes in 2014 of which 90% had type 2 DM (WHO, 2014). More alarming is the fact that by 2030, type 2 DM will be the 7th major cause of death worldwide. Both genetic and environmental factors result in type 2 DM. The prominent risk factors responsible for the disease include; obesity, excess body fat, high blood pressure, sedentary life style, age, poor dietary habits with high intake of sugar, smoking, high consumption of alcohol, socio-economic factors, ethnicity and stress. Mutations in the Adenosine Binding Cassette Transporter Proteins Subfamily A Member 1 (ABCA1) have been associated with abnormal lipid levels and certain variants have been linked with type 2 DM. The present study analyzed the association of ABCA1 rs2230808 gene polymorphism with type 2 DM patients in a local population. The study was carried on 94 subjects who were divided into 49 normal (control) and 45 type 2 DM patients. Genotyping of ABCA1 rs2230808 polymorphism was done through tetra- primers Amplification Refractory Mutation System Polymerase Chain Reaction (ARMS- PCR) technique. The rs2230808 genotypes in the type 2 DM patients was found to be CC (53.33%), CT (31.11%) and TT (15.55%), while in the control group was found to be CC (46.93%), CT (38.77%) and TT (14.28%). The frequency of C and T allele in type 2 DM patients was observed 0.689 and 0.31 respectively, while the allele frequency of C and T allele in control group was found to be 0.663 and 0.337 respectively. The p-value for genotypes and allelic frequency was greater than 0.05. Hence, the results indicate no significant association of ABCA1 rs2230808 polymorphism with risk for type 2 DM was observed in our study group. Additionally, association of CACNA1C rs2239127 gene polymorphism with type 2 DM was also studied. The subjects were divided into 94 type 2 DM patients and 56 normal samples. Restriction Fragment Length Polymorphism technique was employed here. The rs2239127 genotypes in type 2 DM patients was observed as TT (54.25%), CT (34.04%) and CC(11.70%), while in control group it was found to be TT(53.57%), CT (37.5%) and CC (8.92%). The p-value for both genotype and allelic frequency was found to be greater than 0.05% which shows no significant association of rs2239127 polymorphism with type 2 DM in our study group.


URI : https://vspace.vu.edu.pk/details.aspx?id=154

Citation: Ahmed, A(2018), MOLECULAR CHARACTERIZATION OF GENE ABCA1 ASSOCIATED WITH TYPE 2 DIABETES. Virtual University of Pakistan.(Lahore, Pakistan).

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