PMID- 14714273 OWN - NLM STAT- MEDLINE DCOM- 20040823 LR - 20220408 IS - 0947-7349 (Print) IS - 0947-7349 (Linking) VI - 111 IP - 8 DP - 2003 Dec TI - Vitamin D receptor gene polymorphisms and association with type 2 diabetes mellitus in a Polish population. PG - 505-9 AB - 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 chi2 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. FAU - Malecki, M T AU - Malecki MT AD - Department of Metabolic Diseases, Medical College, Jagiellonian University, 31-501 Krakow, Poland. mmalecki@cm-uj.krakow.pl FAU - Frey, J AU - Frey J FAU - Moczulski, D AU - Moczulski D FAU - Klupa, T AU - Klupa T FAU - Kozek, E AU - Kozek E FAU - Sieradzki, J AU - Sieradzki J LA - eng GR - 1 R03 TW01351-01/TW/FIC NIH HHS/United States PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, P.H.S. PL - Germany TA - Exp Clin Endocrinol Diabetes JT - Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association JID - 9505926 RN - 0 (Receptors, Calcitriol) SB - IM MH - Adult MH - Aged MH - Alleles MH - Case-Control Studies MH - Diabetes Mellitus, Type 2/*genetics MH - Female MH - Gene Frequency MH - Genotype MH - Haplotypes MH - Humans MH - Linkage Disequilibrium MH - Male MH - Middle Aged MH - Poland MH - *Polymorphism, Genetic MH - Polymorphism, Restriction Fragment Length MH - Receptors, Calcitriol/*genetics EDAT- 2004/01/10 05:00 MHDA- 2004/08/24 05:00 CRDT- 2004/01/10 05:00 PHST- 2004/01/10 05:00 [pubmed] PHST- 2004/08/24 05:00 [medline] PHST- 2004/01/10 05:00 [entrez] AID - 10.1055/s-2003-44711 [doi] PST - ppublish SO - Exp Clin Endocrinol Diabetes. 2003 Dec;111(8):505-9. doi: 10.1055/s-2003-44711.