Authors: Ahmed A , Ahmed K , Babar N , Ali A , Babar M.E , Ismail M , Hussain T , Kazmi A.R , Mansoor Q.

Abstract

Background and Objectives: Diabetes mellitus 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) is the most prevalent form. 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 CACNA1C facilitates calcium channels which are responsible for transporting calcium ions into the cells especially in heart and brain. The objective of the study was to find the association of mutations in ABCA1 and CACNA1C with the risk of developing type 2 DM and to find the genotype and allelic frequency of ABCA1 2230808 and CACNA1C 2239127.
Methods: The present study analyzed the association of ABCA1 rs2230808 polymorphism and CACNA1C 2239127 with type 2 DM patients in a local population. The study for ABCA1 2230808 was carried out on 94 subjects who were divided into 49 normal (control) and 45 type 2 DM patients, whereas the sample size for CACNA1C 2239127 was 150 divided into 94 type 2 DM patients and 56 normal samples. Genotyping of ABCA1 rs2230808 polymorphism was carried out by tetra-primers Amplification Refractory Mutation System Polymerase Chain Reaction (ARMS-PCR) technique, while RFLP technique was used for genotyping of CACNA1C rs2239127.
Results: The ABCA1 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%). While the CACNA1C 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%).
Conclusion: The P-value for both genotype and allelic frequency was found to be greater than 0.05% which shows no significant association of ABCA1 rs2230808 and CACNA1C 2239127 polymorphism with type 2 DM in our study group

Keywords: Type 2 DM, ABCA1, CACNA1C, Genetics, SNPs, ARMS-PCR.