[Glutathion-S-Transferase M1, T1 and P1 gene polymorphisms in autoimmune hepatitis]

Autoimmune hepatitis [AIH] is a chronic inflammatory liver disorder of unknown etiology. The search for gene polymorphisms has suggested that Glutathion-s-transferase [GST], enzymes that metabolize carcinogens, drug, and foreign compounds, may play a role in susceptibility to autoimmune liver disease and its severity. The objective of this study was to investigate for a relationship between the glutathion-s-transferase M1, T1 and P1 genotypes and type 1 autoimmune hepatitis. In a case-control study, we investigated glutathion S-transferase [GST] P1 Ile [105] Val, T1, and M1 polymorphisms in 64 type 1 AIH patients and 100 healthy controls that were selected consecutively. GSTM1 and GSTT1 polymorphisms were analyzed by a Multiplex PCR procedure, whereas GSTP1 polymorphism was analyzed by PCR-RFLP. GSTM1 and GSTT1 null genotypes [deletions] were determined in 33[51.6%] and 15 [23.4%] patients with type 1 AIH, and 56 [56%] and 22[22%] controls, respectively. Comparison of patients and controls relative to GSTM1 and GSTT1 genotypes revealed no significant difference between them. Regarding GSTP1 genotypes, 25[39.1%] heterozygotes, 7 [10.9%] homozygotes in the case group and 38[38%] heterozygotes, 14[14%] homozygotes in the control group were observed. The allele frequency of GSTP1 [Val] was 30.4% and 33 % in patients and controls, respectively. There were no significant variation in GSTP1 frequencies between cases and controls. These results suggest that there is no association between GST M1, GSTT1 and GSTP1 gene polymorphisms and type 1 autoimmune hepatitis in Iran

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