Association analysis of DISC1 gene polymorphisms with Attention-Deficit Hyperactivity Disorder in Iranian population

Attention deficit hyperactivity disorder [ADHD] is a common heritable psychiatric disorder with a worldwide prevalence of 5%. The etiology of ADHD is still incompletely understood, but several studies, consistently indicate the strong role of genetic factors on this disorder. The aim of this study was to determine the effect of three SNPs rs11122319, rs11122330 and rs6675281 in the etiology of ADHD in an Iranian children. In this research work, for the first time, we investigated the association of three SNPs [rs11122330, rs6675281 and rs11122319] in theD/5C7 gene with ADHD in Iranian population. Two hundred fourthy subjects composed of 120 patients and 120 healthy controls were included and tetra-primer ARMS PCR technique was used for genotyping all selected SNPs. We found differences in genotype and allele distributions of rs 6675281 polymorphism between our patients and controls. The A, T and A alleles were the more frequent alleles in rs11122319, rs6675281 and rs11122330 polymorphisms in both case and control groups respectively. The TT genotype was more frequent in control group compared to patients. [P value = 0.008, OR= 1.5837, 95% Cl= 1.1012 to 2.2776], Our findings strengthens the role of DISC1 gene as a susceptibility locus for ADHD and indicate that rs6675281 polymorphism is a susceptibility factor for ADHD for the first time in children reported in an Iranian population in this part of the world

Association of CD58 polymorphism with multiple sclerosis and response to interferon beta therapy in a subset of Iranian population

Multiple sclerosis [MS] is one of the leading neurodegenerative causes of physical disability world-wide. Genetic aberrations of autoimmunity pathway components have been demonstrated to significantly influence MS development. Cluster of Differentiation 58 [CD58] is pertained to a group of genes which had been assayed in several recent association studies. Given the significance of CD58 in modulation of T regulatory cells that control autoimmune responses, the present study was conducted to investigate the frequency of rs12044852 polymorphism and its effect on the outcome of interferon beta [IFN- beta] therapy in a subset of Iranian MS patients. Two hundred MS patients and equal number of healthy controls were recruited to be genotyped in an experimental case-control based study through polymerase chain reaction using specific sequence primers [PCR-SSP]. Relapsing remitting multiple sclerosis [RRMS] patients administered IFN- beta therapy were followed up with clinical visits every three months up to two years. The mean of multiple sclerosis severity score [MSSS] and expanded disability status scale [EDSS] were measured to monitor the change in severity of MS in response to IFN- beta therapy. Pearson's Chi-square and analysis of variance [ANOVA] tests were the main statistical methods used in this study. Strong association was found between the CC genotype and onset of MS [p=0.001, OR=2.22]. However, there was no association between rs12044852 and various classifications and severity of MS. Pharmacogenetics-based analysis indicated that carriers of CC genotype had the highest MSSS score compared to others, implying a negative impact of rs12044852 on response to IFN- beta t herapy. Taken together, our findings revealed the critical effect of rs12044852 polymorphism of CD58 on the progression of MS disease. This indicates that genotyping of MS patients may expedite achieving personalized medical management of MS patients

Investigation the role of gender on the HLA-DRB1 and -DQB1 association with type 1 diabetes mellitus in Iranian patients

Type 1 diabetes mellitus [T1D] is an autoimmune and multifactorial disorder. Subsequent analysis on human leukocyte antigen [HLA] region shows that HLA-DRB1 and -DQB1 genes have the strongest association with T1D. In this study, for the first time, we investigated the influence of gender on the HLA-DRB1 and -DQB1 association with type 1 diabetes mellitus in Iranian patients in order to determine gender dependent HLA heterogeneity in Iranian T1D patients. In this case control study, the HLA-DRB1 and -DQB1 typing were performed on 105 Iranian T1D patients and 100 healthy controls. The data were evaluated by using Fisher exact test. Our results indicate that DRB1*04:01, DQB1*03:02 alleles and DRB1*04:01-DQB1*03:02 haplotype were significantly more frequent in male T1D patients than females. Also, DRB1*03:01, DRB1*15:01, DQB1*06:01 alleles, DQB1*03:01/05:01 genotype, DRB1*03:01-DQB1*02:01 and DRB1*15:01-DQB1*06:01 haplotypes were significantly higher in female T1D group than males. Furthermore, our results showed that DRB1*04:01 and DQB1*03:02 alleles were significantly more frequent in male T1D patients 1-5 years old at onset than females with similar condition. The DRB1*03:01 allele and DRB1*03:01-DQB1*02:01 haplotype were significantly higher in female T1D patients 6-10 years old at onset than males with similar condition. The DRB1*15:01 allele and DRB1*15:01-DQB1*06:01 haplotype were significantly more frequent in female T1D patients 16-20 years old at onset than males with similar condition. Our findings suggest that gender has a significant influence on the distribution of HLA-DR and -DQ alleles, genotypes and haplotypes. Also, distribution of the HLA-DRB1 and -DQB1 alleles, genotypes and haplotypes vary based on the gender of T1D patients in different age at onset

structure biology and application of phytohemagglutinin [PHA] in phytomedicine: with special up-to-date references to lectins

Lectins first discovered more than 100 years ago in plants, they are now known to be present throughout nature. Phytohemagglutinin [PHA], the lectin extract from the red kidney bean [Phaseolus Vulgaris], contain potent, cell agglutinating and mitogenic activities. They play a role in biological recognition phenomena involving cells and proteins towards medical applications. The present article is a brief review of the history of lectin in nature. By reviewing the web-based search for all types of peer review articles published, was initiated using ISI web of Sciences and Medline / PubMed, and other pertinent references on websites about lectins. Here, we present a brief account of 100-plus years of lectin research and show how these proteins have become the focus of intense interest for biologists and in particular for the research and applications in medicine. Phytohemagglutinin, has been widely used for mitotic stimulation to human lymphocytes, cell arrest, or apoptosis, potential sources for developing novel pharmaceutical preparation and intensive interest for health care services, biologist and phytomedicine research can be considered

Clinical characteristics and remedies in 45 Iranians with carotid body Tumors

Carotid body tumors [CBTs] are rare, slow-growing tumors that should be considered in evaluating every lateral neck mass. This single center study was performed to define demographic features, clinical characteristics and remedies of Iranian patients with CBT. A retrospective review of prospectively collected data was done on 45 patients with 50 CBTs who have been referred to Sina Hospital, Tehran, Iran, during a 10-year period, were investigated in this study. The demographic characteristics, clinical and pathologic features, imagings, preoperative treatments, surgical approach and complications were analyzed. The study group predominantly consisted of females [82%]. Age of diagnosis was 18 to 75 years old. Five patients had bilateral CBT. Family history of CBT was positive in seven patients. Most of CBTs were

[ influence of HLA-DRB1,-DQB1 genes on age at onset of type 1 diabetes in Iranian T1D patients]

Survey of the influence of HLA-DRB1,-DQB1 alleles, genotypes and haplotypes on age at onset of type 1 diabetes [T1D] in an Iranian population 105 Iranian T1D patients of different ethnic group and 100 ethnically, age and sex matched individuals were selected from Tehran's hospitals and HLA-DRB,-DQB typing was performed. According to the age at onset of T1D, the patients were divided into 4 groups [1-5, 6-10, 11-15, 16-20 years]. The frequency of susceptible and protective alleles, genotypes and haplotypes was calculated in each group. The data were evaluated by using fisher's exact test. Odds Ratio or relative Risk was measured for all samples. The results illustrated that the frequency of the HLA-DRB1*0401 allele decreased with increasing age, whereas the frequency of the HLA-DQB1*0201 allele increased with increasing age. The HLA-DRB1*0301 and HLA-DQB1*0302 alleles demonstrated the highest frequency in the 6-11 and 1-5 years age at onset group, respectively. HLA-DRB1*0401-DQB1*0302 haplotype had the most frequency among the 1-5 years age at onset group [p: 2x10-7, OR: 69.919] and the frequency of HLA-DRB1*0301-DQB1*0201 haplotype was the highest in the 6-11 years age at onset group among others [p: 2x10-6, OR: 6.243]. The current study indicated that HLA-DRB1,-DQB1 alleles, genotypes and haplotypes are associated with age at onset of type1 Diabetes in Iranian T1D patients. The individuals carrying alleles that are associated with younger age at onset should take care under preventive treatment

Detection of Duchenne/Becker muscular dystrophy carriers in a group of Iranian families by linkage analysis

This study determines the value of linkage analysis using six RFLP markers for carrier detection and prenatal diagnosis in familial DMD/BMD cases and their family members for the first time in the Iranian population. We studied the dystrophin gene in 33 unrelated patients with clinical diagnosis of DMD or BMD. Subsequently, we determined the rate of heterozygosity for six intragenic RFLP markers in the mothers of patients with dystrophin gene deletions. Finally, we studied the efficiency of linkage analysis by using RFLP markers for carrier status detection of DMD/BMD. In 63.6% of the patients we found one or more deletions. The most common heterozygous RFLP marker with 57.1% heterozygosity was pERT87.15Taq1. More than 80% of mothers in two groups of familial or non-familial cases had at least two heterozygous markers. Family linkage analysis was informative in more than 80% of the cases, allowing for accurate carrier detection. We found that linkage analysis using these six RFLP markers for carrier detection and prenatal diagnosis is a rapid, easy, reliable, and inexpensive method, suitable for most routine diagnostic services. The heterozygosity frequency of these markers is high enough in the Iranian population to allow carrier detection and prenatal diagnosis of DMD/BMD in more than 80% of familial cases in Iran

Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients

Cystic fibrosis [CF] is the most common inherited disorder in Caucasian populations, with over 1400 cystic fibrosis transmembrane conductance regulator [CFTR] mutations. The type of mutations and their distributions varies widely between different countries and/or ethnic groups. Seventy Iranian cystic fibrosis patients were screened for the CFTR gene mutation using ARMS/PCR [amplification refractory mutation system] for the following mutations: delta F508, N1303K, G542X, 1717-1G>A, R553X, W1282X, G551D, 621+1G>T, delta I 507 and R560T. Single strand conformation polymorphism [SSCP] analysis of exons 3, 7, 10, 11 and 17b, including both the exon/intron junctions, of the CFTR gene was performed in patients in whom no mutation could be identified on one or both CFTR genes. As a result of this screening, only three mutations were found: delta F508 mutation was found in 25 [17.8%] alleles, N1303K in six [4.3%] alleles and G542X in five [3.6%] alleles. Thus, a total of 3 mutations cover 25.7% of CF alleles. These finding will be used for planning future screening and appropriate genetic counseling programs in Iranian CF patients