scholarly journals BSMI AND TAQI POLYMORPHISMS IN VITAMIN D RECEPTOR GENE OF TYPE 2 DIABETES MELLITUS PATIENTS FROM NORTH INDIA

Author(s):  
Nancy Taneja ◽  
Rajesh Khadagawat ◽  
Shalini Mani

ABSTRACTObjective: Polymorphisms in vitamin D receptor (VDR) genes are known to be linked with different metabolic diseases including Type 2 diabetesmellitus (T2DM) also. However, the association of these polymorphisms is not much explored for the Indian population. To determine the prevalenceof 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 bloodsamples and using polymerase chain reaction/restriction fragment length polymorphism based method, the presence of these polymorphisms wasinvestigated 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 andcontrols (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 diabetestoo. In our study also, there is a significant difference between the frequency of wild type and heterozygous genotype for these polymorphisms. Thissuggests that BsmI and TaqI polymorphisms may be associated with T2DM patients.Keywords: Type 2 diabetes mellitus, Polymorphism, Vitamin D receptor, Patient, Control, Restriction fragment length polymorphism.

Author(s):  
Nancy Taneja ◽  
Rajesh Khadgawat ◽  
Shalini Mani

  Objective: Vitamin D receptor (VDR) mediated Vitamin D signaling is important for expression of insulin gene and glucose transporters, which help in glucose uptake by cells. Current evidence suggests that four common polymorphisms (FokI, BsmI, ApaI, TaqI) of VDR gene are associated with Type 2 diabetes mellitus (T2DM) in different populations. However, there is a scarcity of data on VDR polymorphisms from Indian population.Methods: In the current study, total genomic DNA was isolated from 100 well-characterized T2DM patients and 100 healthy controls. We investigated the prevalence of FokI and ApaI polymorphisms in VDR gene of these patients by polymerase chain reaction-restriction fragment length polymorphism-based method. Taking help of our previous published data on TaqI and BsmI polymorphisms in same patients, the haplotype study was also conducted. Statistical analysis of data was performed using SPSS 21.0 software. Haplotype and linkage disequilibrium analysis was performed by Haploview software.Results: Both the wild (TT) and mutant (CC) genotype of FokI polymorphism showed a significant difference between patients and controls (p<0.001 and p<0.001, respectively). The frequency of mutant allele (C) was also significantly higher in T2DM patients than the controls (p<0.001). In case of ApaI, frequency of wild (GG) and mutant (CC) genotype was significantly different in patients and controls (p=0.017 and p=0.034). As per haplotype analysis, the CACT haplotype was predicted to be of significance in patients and consists of mutant alleles of three polymorphisms (FokI, BsmI, ApaI). Conclusion: Our study supports the association of FokI and ApaI polymorphism in T2DM. The haplotype analysis also indicates that the combinations of mutant allele of different VDR polymorphisms are probably responsible for increased susceptibility of these individuals toward T2DM.


1970 ◽  
Vol 19 (4) ◽  
pp. 2812-2818
Author(s):  
Ayman S Al-Hazmi

Background: Type 2 diabetes mellitus (T2DM) is a global problem. Association of multiple genes in T2DM becomes a hot point recently. This study was aimed to evaluate association of vitamin D receptor gene polymorphisms with susceptibility to T2DM. Subjects and methods: One hundred T2DM Saudi male patients were included in this study and one hundred healthy Saudi men were used as control. For each individual, fasting blood glucose, cholesterol, HDL-C, LDL-C, HbA1c, insulin and 25-(OH) vitamin D were measured. In addition, Apal, BsmI and TaqI genotypes were performed for each subject. Data was analyzed by SPSS version 16, using Spearman's rho and ANOVA tests. Results: There was significant inverse correlation between 25-(OH) vitamin D level and T2DM (p<0.01). HbA1c was inversely correlated with 25-(OH) vitamin D level (P<0.05). Genotype study showed that tt of TaqI genotype was higher in T2DM group compared with control group (p<0.05). Moreover, tt genotype has higher HbA1c than both TT and Tt genotypes (p<0.05). Conclusion: An association was confirmed between TaqI genotypes and T2DM but there is no correlation between BsmI, ApaI and T2DM. In addition, HbA1c is positively correlated with tt genotype of TaqI.Keywords: Vitamin D receptor, diabetes type 2, polymorphism.


2020 ◽  
Vol 10 (04) ◽  
pp. 222-235
Author(s):  
Eman S. Arafat ◽  
Inass M. Taha ◽  
Shahad W. Kattan ◽  
Nouf Abubakr Babteen ◽  
Iman Fawzy

Author(s):  
Habiba Al Safar ◽  
Sarah El Hajj Chehadeh ◽  
Laila Abdel-Wareth ◽  
Afrozul Haq ◽  
Herbert F. Jelinek ◽  
...  

2017 ◽  
Vol 42 (4) ◽  
pp. 331-335 ◽  
Author(s):  
Laura Bertoccini ◽  
Federica Sentinelli ◽  
Frida Leonetti ◽  
Diego Bailetti ◽  
Danila Capoccia ◽  
...  

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