Association of ATP binding cassette transporter 1 (ABCA 1) gene polymorphism with type 2 diabetes mellitus (T2DM) in Bangladeshi population

Hasan, Md. Mehedi; Hosen, Md. Bayejid; Rahman, Md. Mostafijur; Howlader, M Zakir Hossain; Kabir, Yearul

doi:10.1016/j.gene.2018.12.003

Cited by 12 publications

(9 citation statements)

References 20 publications

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“…ABCA1 participates in the initial step of reverse cholesterol transportation (RCT) by regulating the movement of excess cholesterol and phospholipids from peripheral tissues to the liver. ABCA1 is able to form modest nascent HDL particles by binding with lipid-poor or lipid-free apolipoprotein (apo) A-I and apoE [ 35 , 36 ]. ABCA1-knockout mouse models have demonstrated that ABCA1 is critical in mediating lipid efflux, and HDL formation and homeostasis [ 37 ].…”

Section: Abc Transporter Membersmentioning

confidence: 99%

“…Cytokines produced by macrophages in adipose tissue contribute to the development of insulin resistance [ 75 ]. However, there is a debate regarding whether the ABCA1 gene polymorphism is a genetic risk factor for T2DM [ 35 , 85 ]. Insulin-like growth factor 1 (IGF-1) can mediate the stimulation of ABCA1 gene expression by inducing the PI3-K/Akt/Forkhead box protein O1 (FoxO1) pathway [ 86 ].…”

Section: Abc Transporters and Metabolic Diseases: Abnormal Lipid Metamentioning

confidence: 99%

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The impact of ATP-binding cassette transporters on metabolic diseases

Lü

2020

Nutr Metab (Lond)

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Currently, many people worldwide suffer from metabolic diseases caused by heredity and external factors, such as diet. One of the symptoms of metabolic diseases is abnormal lipid metabolism. ATP binding cassette (ABC) transporters are one of the largest transport protein superfamilies that exist in nearly all living organisms and are mainly located on lipid-processing cells. ABC transporters have been confirmed to be closely related to the pathogenesis of diseases such as metabolic diseases, cancer and Alzheimer’s disease based on their transport abilities. Notably, the capability to transport lipids makes ABC transporters critical in metabolic diseases. In addition, gene polymorphism in ABC transporters has been reported to be a risk factor for metabolic diseases, and it has been reported that relevant miRNAs have significant roles in regulating ABC transporters. In this review, we integrate recent studies to examine the roles of ABC transporters in metabolic diseases and aim to build a network with ABC transporters as the core, linking their transport abilities with metabolic and other diseases.

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Section: Abc Transporter Membersmentioning

confidence: 99%

Section: Abc Transporters and Metabolic Diseases: Abnormal Lipid Metamentioning

confidence: 99%

The impact of ATP-binding cassette transporters on metabolic diseases

Lü

2020

Nutr Metab (Lond)

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“…In addition, a recent meta-analysis of studies conducted on Asian people (mainly Chinese) reached the same conclusion [ 20 ]. However, ethnicity has been reported to play a role in the determination of genetic risk factors [ 27 , 28 ], and indeed, others have reported no effects in Bangladeshi [ 29 ], Malaysian [ 30 ], or Caucasian subjects [ 31 ].…”

Section: Introductionmentioning

confidence: 99%

ABCA1 C69T Gene Polymorphism Association with Dysglycemia in Saudi Prediabetic Adults

Ajabnoor

Bahijri²,

Alrashidi³

et al. 2022

Genes

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Studies suggest that ATP-binding cassette transporter A1 (ABCA1 C69T) polymorphism is associated with a decreased incidence of type 2 diabetes mellitus (T2DM) and that there is an association between ABCA1 C69T polymorphism and the risk of dyslipidemia in diabetic individuals. However, other studies contradict these suggestions. Therefore, we aimed to investigate the prevalence of ABCA1 C69T (rs1800977) gene polymorphism in a representative sample of the Saudi population not previously diagnosed with diabetes and its possible association with dyslipidemia and dysglycemia. A cross-sectional design was used to recruit nondiabetic adults of both genders from the Saudi population in Jeddah by employing a stratified, two-stage cluster sampling method. A total of 650 people (337 men and 313 women) were recruited. Demographic, dietary, and lifestyle variables, as well as medical history and family history of chronic diseases, were collected using a predesigned questionnaire. Fasting blood samples were taken for the determination of fasting plasma glucose (FPG), glycated hemoglobin (HbA1c), and lipids profile, which were followed by a 1-h oral glucose tolerance test (OGTT). Real-time PCR technology was used to determine the ABCA1 C69T gene SNP (rs1800977). The T allele of ABCA1 C69T (rs1800977) was very frequent (TT in 44.9% and CT in 43.7%). There was a trend toward significance for a higher dysglycemia percentage in people with CT and TT genotypes (25.7%, and 23.3%, respectively) compared with CC genotypes (16.2%). In addition, FPG and 1-h plasma glucose were significantly higher in people with both TT and CT genotypes compared to CC genotypes. However, T allele was not associated with any dysregulation of lipid parameters.

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“…Until the present, about 97 mutations have been found in the ABCA1 gene, and a large number of them are linked with Tangier disease (TD), which is described as the accretion of cholesterol in reticuloendothelial cells that increases the risk of coronary heart disease [ 17 , 18 , 19 ]. In addition to Tangier disease [ 20 , 21 ], variations and alterations in the ABCA1 gene enhance the risk of allelic disorders, such as atherosclerosis [ 22 , 23 ], ischemic stroke [ 23 , 24 ], coronary heart disease [ 25 ], type II diabetes [ 26 , 27 , 28 ], myocardial infarction (MI) [ 6 ], familial hypercholesterolaemia (FH) [ 29 ], cancer [ 30 , 31 , 32 ], Alzheimer’s disease [ 33 ], and macular degeneration [ 34 ]. Mutations in the ABCA1 gene also increase the incidence of systemic and plaque inflammation [ 35 ].…”

Section: Introductionmentioning

confidence: 99%

Computational SNP Analysis and Molecular Simulation Revealed the Most Deleterious Missense Variants in the NBD1 Domain of Human ABCA1 Transporter

Dash

Ali

Rana

et al. 2020

IJMS

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The ATP-binding cassette transporter A1 (ABCA1) is a membrane-bound exporter protein involved in regulating serum HDL level by exporting cholesterol and phospholipids to load up in lipid-poor ApoA-I and ApoE, which allows the formation of nascent HDL. Mutations in the ABCA1 gene, when presents in both alleles, disrupt the canonical function of ABCA1, which associates with many disorders related to lipid transport. Although many studies have reported the phenotypic effects of a large number of ABCA1 variants, the pathological effect of non-synonymous polymorphisms (nsSNPs) in ABCA1 remains elusive. Therefore, aiming at exploring the structural and functional consequences of nsSNPs in ABCA1, in this study, we employed an integrated computational approach consisting of nine well-known in silico tools to identify damaging SNPs and molecular dynamics (MD) simulation to get insights into the magnitudes of the damaging effects. In silico tools revealed four nsSNPs as being most deleterious, where the two SNPs (G1050V and S1067C) are identified as the highly conserved and functional disrupting mutations located in the NBD1 domain. MD simulation suggested that both SNPs, G1050V and S1067C, changed the overall structural flexibility and dynamics of NBD1, and induced substantial alteration in the structural organization of ATP binding site. Taken together, these findings direct future studies to get more insights into the role of these variants in the loss of the ABCA1 function.

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Association of ATP binding cassette transporter 1 (ABCA 1) gene polymorphism with type 2 diabetes mellitus (T2DM) in Bangladeshi population

Cited by 12 publications

References 20 publications

The impact of ATP-binding cassette transporters on metabolic diseases

The impact of ATP-binding cassette transporters on metabolic diseases

ABCA1 C69T Gene Polymorphism Association with Dysglycemia in Saudi Prediabetic Adults

Computational SNP Analysis and Molecular Simulation Revealed the Most Deleterious Missense Variants in the NBD1 Domain of Human ABCA1 Transporter

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