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Home > Molecular Characterization of Gene Abca1 Associated With Type 2 Diabetes

Molecular Characterization of Gene Abca1 Associated With Type 2 Diabetes

Thesis Info

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Author

Aleem Ahmed

Institute

Virtual University of Pakistan

Institute Type

Public

City

Lahore

Province

Punjab

Country

Pakistan

Thesis Completing Year

2018

Thesis Completion Status

Completed

Subject

Software Engineering

Language

English

Link

http://vspace.vu.edu.pk/detail.aspx?id=154

Added

2021-02-17 19:49:13

Modified

2024-03-24 20:25:49

ARI ID

1676720980739

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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.
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