Bsmi and Taqi Polymorphisms in Vitamin D Receptor Gene of Type 2 Diabetes Mellitus Patients From North India

Abstract

Objective: Polymorphisms in vitamin D receptor (VDR) genes are known to be linked with different metabolic diseases including Type 2 diabetes mellitus (T2DM) also. However, the association of these polymorphisms is not much explored for the Indian population. To determine the prevalence of BsmI and TaqI polymorphism in VDR gene of T2DM patients from North India.Methods: Blood samples were obtained from 100 well-characterized T2DM patients and 100 healthy controls. Genomic DNA was isolated from blood samples and using polymerase chain reaction/restriction fragment length polymorphism based method, the presence of these polymorphisms was investigated in these samples. The data were statistically analyzed using SPSS 21.0 software. Results:For TaqI polymorphism, both the wild type (TT) and heterozygous (TC) genotype showed a significant difference between patients and controls (p=0.023 and p<0.001, respectively). Whereas, the frequency of CC genotype was not significantly different among these groups (p=0.506). For BsmI polymorphism also, the frequency of wild type (GG) and heterozygous (GA) genotype was significantly different in patients and controls (p=0.027 and p=0.001), respectively. However, the frequency of AA genotype was not of statistical significance in patients (p=0.071). Conclusions:The mutant alleles of TaqI and BsmI polymorphisms are known to be associated with different metabolic diseases, including diabetes too. In our study also, there is a significant difference between the frequency of wild type and heterozygous genotype for these polymorphisms. This suggests that BsmI and TaqI polymorphisms may be associated with T2DM patients.

Vitamin D Receptor Gene Polymorphisms and Haplotype Analysis in Type 2 Diabetes Mellitus Patients From North India

“…As per our earlier study, the same T2DM patients had significantly a lower number of wild type genotype (TT) 36% of TaqI polymorphism as compared to (TT) 50% in the controls [22]. As the TT genotype is known to be associated with high copy number of VDR mRNA [27,30] and hence low occurrence of wild type genotype in these patients indicate that they might have low VDR protein levels and may have compromised glucose metabolism too.…”

“…As per literature, BsmI, ApaI and TaqI polymorphisms are shown to be in strong LD [23]. Hence, by taking help from our published data [22], the relationship between these four polymorphisms (LD and haplotype analysis) was also studied further in our patients.…”

“…As a preliminary analysis, firstly we studied TaqI and BsmI polymorphisms. As a result, we found that the frequency of TT and TC genotype of TaqI as well as GG and GA genotype of BsmI polymorphism was significantly different in patients and controls [22]. In the current study, the association of remaining two important polymorphisms such as FokI and ApaI is investigated.…”

Artificial Neural Networks Model for Predicting Type 2 Diabetes Mellitus Based on VDR Gene FokI Polymorphism, Lipid Profile and Demographic Data

“…The resulted complex then acts as an active transcription factor that controls the expression of about 200 genes including the insulin gene. Hence, any variations in the VDR gene could affect the insulin level and might lead to diabetes [3]. The vitamin D receptor (VDR) gene is located on chromosome 12 (12q14).…”

“…On the other hand, the role of vitamin D in the pathogenesis and prevention of T2DM has gained widespread interest [ 2 ]. Vitamin D has major roles in the regulation of insulin secretion from β-cells and the homeostasis of calcium [ 3 ] and regulation of growth and differentiation of diverse types of cells [ 4 ]. These roles are partially mediated by binding of vitamin D to its specific receptors.…”