Association of ATP-Binding Cassette Transporter A1 Gene Polymorphisms in Type 2 Diabetes Mellitus among Malaysians

Abstract

Background. Type 2 diabetes mellitus (T2DM) is a complex polygenic disorder characterized by impaired insulin resistance, insulin secretion, and dysregulation of lipid and protein metabolism with environmental and genetic factors. ATP-binding cassette transporter A1 (ABCA1) gene polymorphisms are reported as the one of the genetic risk factors for T2DM in various populations with conflicting results. This study was conducted based on PCR-HRM to determine the frequency of ABCA1 gene by rs2230806 (R219K), rs1800977 (C69T), and rs9282541 (R230C) polymorphisms Malaysian subjects. Methods. A total of 164 T2DM and 165 controls were recruited and their genotypes for ABCA1 gene polymorphisms were determined based on the real time high resolution melting analysis. Results. There was a significant difference between the subjects in terms of age, BMI, FPG, HbA1c, HDL, LDL, and TG (P < 0.05). There was a significant association between HOM of R219K (P = 0.005), among Malaysian subjects; moreover, allele frequency revealed the significant difference in A allele of R219K (P = 0.003). But, there was no significant difference in genotypic and allelic frequencies of C69T and R230C polymorphism. Conclusion. R219K polymorphism of ABCA1 gene can be considered as a genetic risk factor for T2DM subjects among Malaysians.

ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease

“…The three loci of the ABCA1 gene, rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C), are located in the two major extracellular rings of the ABCA1 protein, which is an important part of the role of APO‐I and cholesterol efflux . Therefore, the change in these two loci may lead to the variation of the disease and ultimately affect the level of HDL‐C .…”

“…Therefore, the change in these two loci may lead to the variation of the disease and ultimately affect the level of HDL‐C . Several studies attached the importance to the role of the three SNPs of ABCA1 gene in the risk of CHD, but with conflicting results . Therefore, we aimed to investigate the association between three SNPs of ABCA1 and susceptibility to CHD in Chinese Han population.…”

“…The three loci of the ABCA1 gene, rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C), are located in the two major extracellular rings of the ABCA1 protein, which is an important part of the role of APO-I and cholesterol efflux. 12 Therefore, the change in these two loci may lead to the variation of the disease and ultimately affect the level of HDL-C. 13 Several studies attached the importance to the role of the three SNPs of ABCA1 gene in the risk of CHD, but with conflicting results. 12,14 Therefore, we aimed to investigate the association between three SNPs of ABCA1 and susceptibility to CHD in Chinese Han population.…”

Analysis of selected glutathione S-transferase gene polymorphisms in Malaysian type 2 diabetes mellitus patients with and without cardiovascular disease

“…The International Diabetes Federation (IDF) has predicted that the number of people with diabetes will rise from 285 million in 2010 to 439 million in 2030. In Malaysia, the proportion of known diabetes is estimated to have increased from 6.5 to 9.5%, accompanied by a three-fold enlargement in newly diagnosed cases from 1.8 to 5.4% over the same period (Letchuman et al, 2010;Etemad et al, 2013;Haghvirdizadeh, et al, 2015). Malaysia has different subethnic groups (Hatin et al, 2014).…”

Association between -1082G/A, -819C/T, and -592C/A genetic polymorphisms in IL-10 and risk of type 2 diabetes mellitus in a Chinese population

“…Hereditary or genetic factors have also been reported to play an important role in the development of this disease. For example, polymorphisms in genes coding for transcription factor 7-like 2 (TCF7L2), vitamin D receptor, glutathione S-transferases, ATP-binding cassette transporter A1, and N-acetyltransferase 1 and 2 are correlated with risk of diabetes (Al-Shaqha et al, 2015;Haghvirdizadeh et al, 2015;Jia et al, 2015;Liu et al, 2015;Stoian et al, 2015).…”