[Association of the vitamin D receptor gene polymorphisms with inflammatory bowel disease in Iran]

Different genes such as vitamin D receptor [VDR] gene have some roles in IBD susceptibility. Some studies have recognized the relation of VDR gene polymorphisms with inflammatory and autoimmune disorders. Determining the frequency of these polymorphisms and their possible relation with IBD can improve understandings about genetic background of these diseases. The objective of this study was to assess the association of VDR gene polymorphisms [Apa I, Taq I, Bsm I, Fok I] with IBD in Iran. In this case-control designed study 100 UC, 50 CD patients and 150 sex and age matched healthy controls, hospital base, were selected. These patients were referred to [Taleghani Hospital] during a one year period [2004-2005]. Assessment of VDR gene polymorphisms was performed by PCR-RFLP method. Only the frequency of the Fok I polymorphism was significantly higher in UC and CD groups. The frequency of the polymorphic allele f was higher in UC and CD groups comparing with controls [p=0.019, OR=1.581 and p<0.001, OR=2.642, respectively]. The f/f genotype was significantly more frequent in UC and CD patients comparing with controls [p=0.010, OR=2.774 and p<0.001, OR = 5.947, respectively]. There were no significant differences between frequencies in patients and controls in other polymorphisms. There is a relation between Fok I polymorphism in VDR receptor gene and IBD in Iran but no association was observed with other 3 polymorphisms

Frequency and biochemical expression of hemochromatosis [HFE] gene mutations in 1029 blood donors in Iran

There are no data on the frequency and biochemical expression of the hemochromatosis associated mutations, C282Y and H63D, in Iranian adult population. This is the first study among Iranians that may advocate a screening program. We investigated the frequency of the C282Y/H63D HFE gene mutations in a group of 1029 randomly selected Iranian blood donors as well as transferrin saturation [TS], serum iron and serum ferritin levels. DNA extraction with salting-out method was performed on blood samples and the analysis of HFE gene mutations was performed by PCR amplification followed by digestion with RsaI and BclI restriction enzymes. The mean age of donors was 40 +/- 11 years and 92.7% were male. No homozygosity was detected for the C282Y mutation. Heterozygosity for the C282Y mutation was 0.2%, while homozygosity and heterozygosity for the H63D mutation were 1.6% and 19.6%, respectively. There was no compound heterozygote for the C282Y/H63D mutation. These data resulted in allele frequencies of 0.1% and 11.3% for C282Y and H63D mutations, respectively. Serum iron and TS were not influenced by the type of C282Y and H63D mutation. There was no difference in ferritin levels according to type of HFE mutations among blood donors. This study shows low allele frequency for C282Y and H63D mutations in Iran. These results also suggest that there is not any association between HFE gene mutations and iron, TS and ferritin level among Iranian population. The genetic screening for the HFE gene mutation in Iran is not recommended until the true prevalence of other mutations in all hemochromatosis genes could be established