Investigation of ABCA1 C69T polymorphism in patients with type 2 diabetes mellitus

Abstract

Introduction:Non insulin dependent diabetes mellitus is the most common type of diabetes. Genetic factors, lipid profiles, hypertension are potential risk factors for diabetes mellitus. Adenosine binding cassette transporter proteins 1 (ABCA1) plays a role in cholesterol metabolism, especially high density lipoprotein (HDL-cholesterol). There are multiple mechanisms by which HDL-cholesterol can be atheroprotective, it is clear that the relative activity of ABCA1 plays a major role. We aimed to investigate association of ABCA1 C69T gene polymorphism with lipid levels in Turkish type 2 diabetic patients.Materials and methods:After isolation of DNA by ethanol precipitation we determined ABCA1 gene polymorphism by using polimerase chain reaction - restriction fragment lenght polymorphism (PCR-RFLP) method in 107 type 2 diabetic patients and 50 healthy controls.Results:We have observed that the frequency of TT genotype is significantly higher in healthy controls compared to patients (14% vs. 3%; P = 0.008). Also frequency of T allele was higher in controls than in patients (34% vs. 21%; P = 0.020; OR (95% CI) = 0.52 (0.30–0.88)). There was no association of lipid levels and ABCA1 C69T polymorphism subgroups.Conclusion:We have found significantly higher frequency of both T allele and genotype in control group when compared to patients that made us think that T allele may be a protective factor against diabetes mellitus. But, we could not find a relationship between genotypes and lipid concentrations in our two groups. Larger studies will help us to understand the relationship between ABCA1 C69T genotype and lipid parameters in diabetes mellitus.

A Study of some Biochemical Parameters and ABCA1 Gene Polymorphism for Type-2-Diabetes Mellitus Patients

“…The present study also disagreed with the study concluded that an ABCA1 variant is associated with HDL level and early-onset T2DM in a specific Taiwanese population (Chieh et al, 2014). Our results are similar to Turkish study, where no association between this polymorphism and HDL concentration was reported (Ergen et al, 2012). The present study confirmed that the frequency of genotypes and alleles are significantly different between patients and control groups according to Body mass index (BMI).…”

“…However, this is a preliminary study and the results need to be confirmed in a larger studies. Other similar studies of ABCA1 C69T polymorphism that found higher frequency of the TT genotype and T allele in the controls in comparison with T2DM have been reported by Khalid et al (2013) and Ergen et al (2012). Relationship between ABC1 gene polymorphism with plasma lipid levels, BMI, age and gender…”

“…We could not find any relationship between genotype frequency and other lipid serological markers and other parameters as in Table 3. ABCA1 has an important role in carrying cholesterol from peripheral tissues to liver (Ergen et al, 2012). Vergeer (2010) showed that heterozygous carriers of ABCA1 mutations displayed mild hyperglycaemia compared to non-carriers of similar age, sex and BMI.…”

Functional and Structural Impact of ATP-Binding Cassette Transporter A1 R219K and I883M Gene Polymorphisms in Obese Children and Adolescents

“…In obesity, the K allele of the R219K polymorphism was also associated with lower HDL-c levels than controls among overweight/ obese Thai males, with no difference in HDL-c concentrations among genotypes of I883M polymorphism [10]. ABCA1 variants were also associated with altered lipid profile in other disease conditions, such as hypertension, atherosclerosis, coronary artery disease, and diabetes mellitus [64,66,67]. In contrast, other studies demonstrated the reverse; the k carriers had an increasing trend toward higher HDL-c concentration with age among Europeans [20] and Japanese school-age children [68].…”

ABCA1 Variants rs1800977 (C69T) and rs9282541 (R230C) Are Associated with Susceptibility to Type 2 Diabetes

“…Recently, there have been some studies on the relationship between the ABCA1 rs1800977 polymorphism and T2DM risk. In 2012, Ergen et al [26] conducted a case-control study (107 patients and 50 controls) to explore the relationship between the ABCA1 rs1800977 polymorphism and blood lipid levels in patients with T2DM in Turkey. They found that the T allele and the TT genotype of the rs1800977 polymorphism were associated with a lower risk of T2DM.…”