[Evaluation of the association of NOD2 gene polymorphisms with the occurrence of GVHD in acute myelogenous leukemia patients]

Graft-versus-host disease [GVHD] is one of life-threatening post-transplantation complications. Several recent studies have described a significant correlation between transplantation outcome and three single nucleotide polymorphisms [SNPs] in the NOD2 gene. This study was conducted to evaluate the association of NOD2 gene polymorphisms with the occurrence of GVHD in acute myelogenous leukemia patients who underwent HSCT from their HLA-matched sibling donors. We examined retrospectively NOD2 genotypes by PCR-SSP both in 124 patients who underwent HSCT and in their donors; then, the association of the genetic polymorphisms on acute and chronic GVHD was evaluated. Median follow up of patients was 40 months [range of 28-77 months]. Statistical analyses were performed using Chi-square test and SPSS software. Mutation incidence were the same between donors and recipients as 12.1%. In three of the patient-donor pairs [2.4%] SNPs occurred in both resulting in an overall frequency of 21.8% in patient-donor pairs. There weren't any significant differences between aGVHD and cGVHD incidence rates when donor/recipient pairs with SNPs were compared with the pairs without SNPs. aGVHD and cGVHD incidence rates in the former pairs were 52% and 56% and in the latter pairs 50.5% and 55%, respectively. No impact of NOD2 SNPs on incidence of acute and chronic GVHD was observed. Further studies are required to ascertain whether the findings of this study can be extended to other disease groups. In addition, further studies are required to identify the relevance of other SNPs

[Study of LDL receptor gene mutations in patients with familial hypercholesterolemia in Chaharmahal va Bakhtiari province]

Familial hypercholesterolemia is an autosomal dominant inherited disorder, characterized by increased level of low-density lipoprotein cholesterol and lipid accumulation in tendons and arteries. It can cause premature atherosclerosis and increased risk of coronary heart disease [CHD]. Familial hypercholesterolemia is caused mainly by mutations in low-density lipoprotein receptor [LDLR] gene. The aim of this study was to analyze the LDLR gene mutations in a group of patients from Chaharmahal va Bakhtiari province. In this descriptive-lab based study, 57 suspected FH patients were screened for mutations in promoter and exons 1,3,5,11,13,15,16,17 and 18 of LDLR gene using PCR-SSCP strategy. Two different LDLR gene variations, including heterozygote mutation 283T>A and polymorphism 1959T>C, were identified in 1 and 9 FH Families studied, respectively. We conclude that LDLR gene mutation may not be the major cause of FH in the population studied and the cause of FH in Chaharmahal va Bakhtiari province remains to be detected in other loci or genes

[DFNB59 gene mutations screening in non syndromic deaf subjects in Chaharmahal va Bakhtiari province]

The incidence of pre-lingual deafness is about 1 in 1000 neonates from which more than 60% of cases are inherited. Deafness is a heterogeneous disorder and may be due to genetic or environmental cause or both. Mutations in the DFNB59 gene encoding pejvakin protein has been very recently shown to cause neural deafness. In the present study, we have conducted type and frequency of the DFNB59 gene mutations in a cohort of 100 non syndromic deaf subjects in Chaharmahal va Bakhtiari province. In this descriptive-lab based study we investigated the frequency of DFNB59 gene mutations in the entire coding exons of the gene. DNA was extracted from the peripheral blood samples following the standard phenol chloroform procedure. DFNB59 gene mutations were investigated using PCR-SSCP/ Heteroduplex Analysis [HA]. The results of PCRSSCP/HA were confirmed by sequencing of exon 7, nested PCR and PCR-RFLP of 3 known DFNB59 mutations. Altogether 3 different gene polymorphisms [793C>G, 793C>T and 874G>A] and one mutation [988delG] were detected in 7, 5, 2 and 1 subjects respectively. Based on our data from the present study and previous study, we conclude that DFNB59 gene mutations have a very low contribution to deafness in patients in Chaharmahal va Bakhtiari province and are not of great clinical importance in this region