Vitamin D Receptor Gene Polymorphisms and Association with Type 2 Diabetes Mellitus in a Polish Population

M. T. Malecki; J. Frey; D. Moczulski; T. Klupa; E. Kozek; J. Sieradzki

doi:10.1055/s-2003-44711

Experimental and Clinical Endocrinology & Diabetes, Table of Contents

Exp Clin Endocrinol Diabetes 2003; 111(8): 505-509
DOI: 10.1055/s-2003-44711

Article

J. A. Barth Verlag in Georg Thieme Verlag Stuttgart · New York

Vitamin D Receptor Gene Polymorphisms and Association with Type 2 Diabetes Mellitus in a Polish Population

M. T. Malecki¹ , J. Frey¹ , D. Moczulski² , T. Klupa¹ , E. Kozek¹ , J. Sieradzki¹

¹Department of Metabolic Diseases, Medical College, Jagiellonian University, Krakow, Poland
²Department of Internal Medicine, Silesian School of Medicine, Zabrze, Poland

Abstract

Vitamin D plays an important role in insulin secretion. There is also evidence that this steroid may influence the insulin sensitivity. Thus genes involved in its metabolic pathway have been regarded as good candidates for type 2 diabetes mellitus (T2DM). One of them is vitamin D receptor gene (VDR). Its multiple polymorphisms have been examined for the association with T2DM in several populations. Those studies did not provide clear answers about the role of VDR in this disease. The aim of the study was to search for the association of FokI, ApaI, BsmI, and TaqI polymorphisms of VDR gene with T2DM in a Polish population using a case-control study design. Overall, 548 individuals were examined: 308 T2DM patients and 240 control individuals. The study groups were genotyped for VDR FokI, ApaI, BsmI, and TaqI variants using the restriction fragment length polymorphism (RFLP) method. Since variants of ApaI, BsmI, and TaqI polymorphisms were in very strong linkage disequilibrium, three loci haplotypes could be assigned to phase-unknown individuals with a high degree of confidence. Differences in allele, genotype, haplotype, and haplotype combination distribution between the groups were examined by χ² test. The VDR allele frequencies for T2DM patients and controls were as follows: FokI-F/f - 53.4 %/46.6 % vs. 55.2 %/44.8 %, BsmI-B/b - 34.4 %/65.6 % vs. 37.5 %/62.5 %, ApaI-A/a - 47.9 %/52.1 % vs 50.9 %/49.1 %, TaqI-T/t - 67.6 %/32.4 % vs. 62.7 %/37.3 %, respectively. There was no difference between the groups in allele frequency. Similarly, distribution of genotypes, three locus BsmI/ApaI/TaqI haplotypes and their combinations were similar in the groups. In conclusion, our study did not provide evidence for the association of four examined VDR polymorphisms with T2DM in a Polish population. We postulate that to fully determine whether the sequence differences in VDR gene are susceptibility variants for T2DM, additional studies in different populations are required in a large study group.

Key words

Vitamin D receptor - gene - polymorphism - type 2 diabetes mellitus

Full Text

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M. D., Ph.D. Maciej T. Malecki

Department of Metabolic Diseases
Jagiellonian University, Medical College

15 Kopernika Street

31-501 Krakow

Poland

Phone: + 484213972

Fax: + 48 4 21 97 86

Email: mmalecki@cm-uj.krakow.plormalecki_malecki@yahoo.com