Association of VDR gene variant (rs1544410) with type 2 diabetes in a Pakistani cohort

Khan, Amber; Khan, Suleman; Aman, Aisha; Ali, Yasir; Jamal, Muhsin; Rahman, Bashir; Ahmad, Mushtaq; Aasim, Muhammad; Jalil, Fazal; Shah, AA

doi:10.2478/bjmg-2019-0026

Cited by 10 publications

(5 citation statements)

References 22 publications

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“…In addition, Barbara Angel and her colleagues reported that VDR polymorphisms are associated with type 2 diabetes in older individuals among the Santiago de Chile population (Angel et al, 2018). Further studies have concluded that there is an association between VDR polymorphisms and type 2 diabetes in different societies (Angel et al, 2018;Gendy et al, 2019;Khan et al, 2019).…”

Section: Discussionmentioning

confidence: 99%

Association of vitamin D receptor gene polymorphisms with type 2 diabetes mellitus in Taif population: a case-control study

et al. 2024

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Several reasons may underlie the dramatic increase in type2 diabetes mellitus. One of these reasons is the genetic basis and variations. Vitamin D receptor polymorphisms are associated with different diseases such as rheumatoid arthritis and diabetes. The aim of this study is to investigate the possible association of two identified mutations ApaI (rs7975232) and TaqI (rs731236). Eighty-nine healthy individuals and Fifty-six Type 2 Diabetic (T2D) patients were investigated using RFLP technique for genotyping and haplotyping as well. The distribution of Apal genotypes was not statistically significant among the control (P=0.65) as well as for diabetic patients (P=0.58). For Taql allele frequencies of T allele was 0.61 where of G allele was 0.39. The frequency distribution of Taql genotypes was not statistically significant among the control (P=0.26) as well as diabetic patients (P=0.17). Relative risk of the allele T of Apa1 gene is 1.28 and the odds ratio of the same allele is 1.53, while both estimates were < 1.0 of the allele G. Similarly, with the Taq1 gene the relative risk and the odds ratio values for the allele T are 1.09 and 1.27 respectively and both estimates of the allele C were 0.86 for the relative risk and 0.79 for the odds ratio. The pairwise linkage disequilibrium between the two SNPs Taq1/apa1 was statistically significant in control group (D = 0.218, D' = 0.925 and P value < 0.001) and similar data in diabetic groups (D = 0.2, D' = 0.875 and P value < 0.001). These data suggest that the T allele of both genes Apa1 and Taq1 is associated with the increased risk of type 2 diabetes. We think that we need a larger number of volunteers to reach a more accurate conclusion.

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Section: Discussionmentioning

confidence: 99%

Association of vitamin D receptor gene polymorphisms with type 2 diabetes mellitus in Taif population: a case-control study

et al. 2024

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“…Thus, a study among residents of Pakistan demonstrated the association of VDR polymorphisms with the appearance of bone metabolism disorders [12]. Similar associations of VDR polymorphisms are also observed in other groups: Egyptian (rs7975232, rs2228570 and rs1544410), French (rs10735810), Canadian (rs10735810), and Tunisian (rs10735810) [13].…”

Section: Discussionmentioning

confidence: 55%

The frequency of allelic variants of the VDR gene and the level vitamin D in children under one year old in the Kazakh population

et al. 2023

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Introduction: The study of the genetic aspects of bone metabolism disorders in children is a theoretical and practical interest for pediatrics, especially according to the age and ethnic positions. There is a number of gene polymorphisms (primarily the vitamin D receptor (VDR) gene) that determine the norm and pathology of bone tissue formation. Calcium absorption worsens when there is no functional VDR and active forms of vitamin D. As a result the level of bone mineralization decreases. In children such disorders lead to the development of osteopenia. Objective: To determine the frequency of allelic variants of the VDR gene (rs1544410, rs2228570) and to evaluate its relationship with the level of vitamin D in children under one year old in the Kazakh population. Material and methods: 197 children under one year of age were examined for vitamin D by electrochemiluminescent immunoassay and genotyping of the VDR polymorphism (rs1544410, rs2228570) by PCR. Results: It was found out that children with the C allele of the VDR rs2228570 gene have a reduced level of vitamin D by 1.84 times (95% CI 1.10 - 3.07) and CC - by 2.3 times compared with children with normal vitamin D levels. Statistical analysis by the Kruskal-Wallis method showed that the serum level of vitamin D in AA carriers for the VDR rs1544410 was significantly reduced comparing to the level in GG and GA carriers (p=0.03). Conclusion: The study confirms the need for further in-depth study of the genetic aspects of bone metabolism disorders in children for the development of personalized medicine.

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“…The current and previously published meta-analyses involving studies were shown in Table 2, Supplemental Digital Content, http://links.lww.com/MD/G216. 56 studies met our requirements, [26,27,28–34,19,35–80] of which 37 studies reported the VDR BsmI (5586 cases and 6484 controls), 31 studies examined the VDR FokI (6525 cases and 7464 controls), 19 studies investigated the VDR ApaI (2593 cases and 3557 controls), and 24 studies explored the VDR TaqI (3221 cases and 4027 controls) with T2DM risk, as shown in Figure 1 and Table 4, Supplemental Digital Content, http://links.lww.com/MD/G216. Among these studies, 25, 22, 6, and 4 of the studies were conducted to analyze Asians, Caucasians, Indians, and mixed populations, respectively.…”

Section: Resultsmentioning

confidence: 99%

Evaluation of association studies and a systematic review and meta-analysis of VDR polymorphisms in type 2 diabetes mellitus risk

et al. 2021

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Numerous original studies and 4 published meta-analyses have reported the association between the Vitamin D receptor ( VDR ) BsmI, FokI, ApaI, and TaqI polymorphisms and type 2 diabetes mellitus (T2DM) risk. However, the results were inconsistent. Therefore, an updated meta-analysis was performed to further explore these issues. To further explore the association between the VDR BsmI, FokI, ApaI, and TaqI polymorphisms and T2DM risk. PubMed, EMBASE, Scopus, and Wanfang databases were searched. The following search strategy were used: ( VDR OR vitamin D receptor) AND (polymorphism OR variant OR mutation) AND (diabetes OR mellitus OR diabetes mellitus). Pooled crude odds ratios with 95% confidence intervals were applied to evaluate the strength of association in 5 genetic models. Statistical heterogeneity, the test of publication bias, and sensitivity analysis were carried out using the STATA software (Version 12.0). To evaluate the credibility of statistically significant associations, we applied the false-positive report probabilities (FPRP) and Bayesian false discovery probability (BFDP) test. Overall, the VDR BsmI polymorphism was associated with a significantly decreased T2DM risk in Asians; the VDR FokI polymorphism was associated with a significantly decreased T2DM risk in Asians, African countries, and Asian countries; the VDR ApaI polymorphism was associated with a significantly decreased T2DM risk in Caucasians and North American countries. On the VDR ApaI polymorphism, a significantly increased T2DM risk was found in a mixed population. However, when we further performed a sensitivity analysis, FPRP, and BFDP test, less-credible positive results were identified (all FPRP > 0.2 and BFDP > 0.8) in any significant association. In summary, this study strongly indicates that all significant associations were less credible positive results, rather than from true associations.

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Association of VDR gene variant (rs1544410) with type 2 diabetes in a Pakistani cohort

Cited by 10 publications

References 22 publications

Association of vitamin D receptor gene polymorphisms with type 2 diabetes mellitus in Taif population: a case-control study

Association of vitamin D receptor gene polymorphisms with type 2 diabetes mellitus in Taif population: a case-control study

The frequency of allelic variants of the VDR gene and the level vitamin D in children under one year old in the Kazakh population

Evaluation of association studies and a systematic review and meta-analysis of VDR polymorphisms in type 2 diabetes mellitus risk

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