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Impact of vitamin D receptor gene polymorphisms in pathogenesis of Type-1 diabetes mellitus.

Abstract

BACKGROUND

Type 1 diabetes mellitus (TIDM) results from an immune-mediated destruction of insulin-producing-cells in the pancreatic islets of Langerhans. There are clear differences in immunogenetic predisposition to type1 diabetes among countries. Studies have indicated that vitamin D supplementation in early childhood decreases the risk of TIDM. Vitamin D exerts its action via the nuclear vitamin D receptor (VDR), which shows an extensive polymorphism. VDR gene polymorphisms have been associated with altered gene expression or gene function. Four single nucleotide polymorphisms (SNPs) in the VDR gene produce variation in four recognition sites. These recognition sites variants include Fok I, Bsm I, Apa I and Taq I.

AIM OF THE STUDY

TO investigate the relationship between VDR gene polymorphisms (at positions Taq I and Apa I) and the incidence of TIDM in Egyptian peoples.

SUBJECTS AND METHODS

This study included 74 patients with type 1 DM in addition to 28 healthy age and sex matched control subjects. All of them were subjected to full history taking and clinical examination. Three ml of venous blood were withdrawn from each patient at fasting and postprandial times and used for genomic DNA extraction, estimation of Hb A1C, as well as, fasting and postprandial C-peptide and blood glucose levels.

RESULTS

Apa I recognition site was found in low frequency in diabetic patients (14/74) 18.9% while, its frequency was high (16/28) 57.1% among normal subjects. Taq I has two recognition sites. The first was found at nucleotide number 293 that was found in a frequency of (2/28) 7.1% in normal non-diabetic individuals while it was detected in (14/74) 18.9% in diabetic patients. The second Taq I recognition site was found at nucleotide number 494 without any differences between diabetic and normal individuals.

CONCLUSION

This study indicates that there is an association between VDR genetic polymorphism and incidence of TIDM in Egyptian patients.

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  • Authors+Show Affiliations

    ,

    Department of Clinical Pathology, National Cancer Institute, Cairo University Egypt.

    ,

    Department of Internal Medicine, Faculty of Medicine, Cairo University Egypt.

    ,

    Department of Clinical Pathology, Ahmed Maher Education Hospital Egypt.

    ,

    Department of Pediatrics Egypt.

    Department of Biochemistry, Faculty of Pharmacy, Al-Azhar University Egypt.

    Source

    Pub Type(s)

    Journal Article

    Language

    eng

    PubMed ID

    25664062

    Citation

    Kamel, Mahmoud M., et al. "Impact of Vitamin D Receptor Gene Polymorphisms in Pathogenesis of Type-1 Diabetes Mellitus." International Journal of Clinical and Experimental Medicine, vol. 7, no. 12, 2014, pp. 5505-10.
    Kamel MM, Fouad SA, Salaheldin O, et al. Impact of vitamin D receptor gene polymorphisms in pathogenesis of Type-1 diabetes mellitus. Int J Clin Exp Med. 2014;7(12):5505-10.
    Kamel, M. M., Fouad, S. A., Salaheldin, O., El-Razek, A. e. l. -. R., & El-Fatah, A. I. (2014). Impact of vitamin D receptor gene polymorphisms in pathogenesis of Type-1 diabetes mellitus. International Journal of Clinical and Experimental Medicine, 7(12), pp. 5505-10.
    Kamel MM, et al. Impact of Vitamin D Receptor Gene Polymorphisms in Pathogenesis of Type-1 Diabetes Mellitus. Int J Clin Exp Med. 2014;7(12):5505-10. PubMed PMID: 25664062.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Impact of vitamin D receptor gene polymorphisms in pathogenesis of Type-1 diabetes mellitus. AU - Kamel,Mahmoud M, AU - Fouad,Shawky A, AU - Salaheldin,Omina, AU - El-Razek,Abd El-Rahman A Abd, AU - El-Fatah,Abeer I Abd, Y1 - 2014/12/15/ PY - 2014/07/28/received PY - 2014/08/12/accepted PY - 2015/2/10/entrez PY - 2015/2/11/pubmed PY - 2015/2/11/medline KW - Vitamin D receptor (VDR) KW - polymorphism KW - type 1 diabetes mellitus (TIDM) SP - 5505 EP - 10 JF - International journal of clinical and experimental medicine JO - Int J Clin Exp Med VL - 7 IS - 12 N2 - BACKGROUND: Type 1 diabetes mellitus (TIDM) results from an immune-mediated destruction of insulin-producing-cells in the pancreatic islets of Langerhans. There are clear differences in immunogenetic predisposition to type1 diabetes among countries. Studies have indicated that vitamin D supplementation in early childhood decreases the risk of TIDM. Vitamin D exerts its action via the nuclear vitamin D receptor (VDR), which shows an extensive polymorphism. VDR gene polymorphisms have been associated with altered gene expression or gene function. Four single nucleotide polymorphisms (SNPs) in the VDR gene produce variation in four recognition sites. These recognition sites variants include Fok I, Bsm I, Apa I and Taq I. AIM OF THE STUDY: TO investigate the relationship between VDR gene polymorphisms (at positions Taq I and Apa I) and the incidence of TIDM in Egyptian peoples. SUBJECTS AND METHODS: This study included 74 patients with type 1 DM in addition to 28 healthy age and sex matched control subjects. All of them were subjected to full history taking and clinical examination. Three ml of venous blood were withdrawn from each patient at fasting and postprandial times and used for genomic DNA extraction, estimation of Hb A1C, as well as, fasting and postprandial C-peptide and blood glucose levels. RESULTS: Apa I recognition site was found in low frequency in diabetic patients (14/74) 18.9% while, its frequency was high (16/28) 57.1% among normal subjects. Taq I has two recognition sites. The first was found at nucleotide number 293 that was found in a frequency of (2/28) 7.1% in normal non-diabetic individuals while it was detected in (14/74) 18.9% in diabetic patients. The second Taq I recognition site was found at nucleotide number 494 without any differences between diabetic and normal individuals. CONCLUSION: This study indicates that there is an association between VDR genetic polymorphism and incidence of TIDM in Egyptian patients. SN - 1940-5901 UR - https://www.unboundmedicine.com/medline/citation/25664062/full_citation L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/25664062/ DB - PRIME DP - Unbound Medicine ER -