Lack of association between TRAF1/C5 rs10818488 polymorphism and rheumatoid arthritis in Iranian population

Rheumatoid arthritis (RA) is a multifactorial disorder related to the inflammatory response system with debilitating and painful conditions. Both genetic and environmental factors, with unknown etiology, play important roles in this disease pathogenesis. Recently, TRAF1/C5 (Tumor Necrosis Factor Receptor-Associated Factor 1/. Complement Component 5) polymorphism associated with increased risk for RA has been studied in different populations worldwide, and inconsistent results have been obtained. rs10818488 allele is located on TRAF1/C5 intergenic region, and has been predicted to be functional. A total of 100 sex- and age-matched people including RA patients (n= 50) and healthy individuals (n= 50) from Iran have been entered in this study and genotyped for rs10818488 (A/G) polymorphism, using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). In our study, rs10818488 allele was not associated with risk for RA in Iranian population (p>. 0.05, OR = 1.27, 95% CI = 0.72-2.23). Results revealed that this allele might be population-specific and not to be associated with their corresponding gene pool. However, further analyses are required to clarify other RA-associated markers in our community. © 2012

Progress and Research Needs of Plant Biomass Degradation by Basidiomycete Fungi

Peer reviewe

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Purpose:Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES).Methods:After excluding mutations in the most common gene, GJB2, we performed WES in 160 multiplex families with ARNSD from Turkey, Iran, Mexico, Ecuador, and Puerto Rico to screen for mutations in all known ARNSD genes.Results:We detected ARNSD-causing variants in 90 (56) families, 54 of which had not been previously reported. Identified mutations were located in 31 known ARNSD genes. The most common genes with mutations were MYO15A (13), MYO7A (11), SLC26A4 (10), TMPRSS3 (9), TMC1 (8), ILDR1 (6), and CDH23 (4). Nine mutations were detected in multiple families with shared haplotypes, suggesting founder effects.Conclusion:We report on a large multiethnic cohort with ARNSD in which comprehensive analysis of all known ARNSD genes identifies causative DNA variants in 56 of the families. In the remaining families, WES allows us to search for causative variants in novel genes, thus improving our ability to explain the underlying etiology in more families.Genet Med 18 4, 364-371. © American College of Medical Genetics and Genomics

Screening of OTOF mutations in Iran: A novel mutation and review

Objective: Mutations in OTOF have been reported to cause nonsyndromic hearing loss in different populations. The purpose of this study is screening of OTOF mutations in Iranian population. Methods: Thirty-eight consanguineous families affected with autosomal recessive nonsyndromic hearing loss (ARNSHL) and negative for GJB2 or GJB6 mutations were screened by autozygosity mapping and Sanger sequencing to find OTOF mutations. Results: A novel homozygous frameshift mutation (c.1981dupG) was found to cause hearing loss in one family and no other OTOF variants were detected in the remaining families. The affected individuals were homozygous forp. D661GfsX2 causing defect in long isoform of otoferlin. Conclusions: We conclude that OTOF mutations are not the major cause of ARNSHL in the Iranian population but still may play an important role in HL; therefore evaluation the OTOF gene is of concern. (C) 2012 Elsevier Ireland Ltd. All rights reserved

The effect of cement and zeolite on undrained shear strength of the expansive clay

Expansive soils can be problematic in that they impose significant economic damages on the construction projects worldwide due to their high volume change in wet-dry conditions. Annually, many structures have been constructed on expansive soils such that nearly 60 percent of them undergo minor damage such as different kinds of fissure while 10 percent face severe unrehabilitatable damages. In this research, the cement and zeolite have been used as the base and supplementary cementitious stabilizers, respectively, and the undrained behavior of the treated expansive clay has been investigated. Hence, 6, 8, 10, and 12 percent of cement and 10, 30, 50, 70, and 90 percent of zeolite replacement were employed to cast the specimens. In the following, using the unconfined compression strength (UCS) and unconsolidated undrained triaxial (UU) tests, it can be stated that the best geotechnical performance such as maximum UCS, deviator stress in UU tests, secant modulus of elasticity (E50), cohesion, and internal fraction were obtained at 12% cement addition and 30% zeolite replacement after 28 days of curing. In both tests, increase in the cement content led to the increment in the failure strength of the samples. Based on the analysis of the results, it can be stated that the best geotechnical characteristics such as UCS, maximum deviational stress in triaxial test, secant modulus of elasticity (E50), and cohesion and internal friction angle were derived from the specimen stabilized with 12 percent of cement and 30 percent zeolite replacement cured in 28 days. With the above said, it can be noted that the optimum amount of zeolite replacement was 30%. Cement increment led to the enhancement of mechanical performance. Increase in zeolite replacement reduced the brittleness of the samples. In addition, increase in the curing time improved the mechanical behavior of the stabilized samples. The microscopic view justified the improvement of the stabilized samples

Evaluation of the litcit software for thermal simulation of superficial lasers such as hair removal lasers

<b>Background and Objectives</b> : In this study, we evaluate LITCIT software for its application as a thermal simulation software for superficial hair removal laser systems. <b> Materials and Methods:</b> Two articles were used as our references. Complete information regarding the tissues, such as optical/thermal properties and geometrical modeling and also the laser systems such as wavelength, spot size, pulse duration and fluence were extracted from these texts. Then, this information regarding the tissues and systems was entered into the LITCIT simulation software. Further, we ran the program and saved the results. Finally, we compared our results with the results in references and evaluated the. <b> Results</b> : Output results of the LITCIT show that they are consistent with the results of references that were calculated with a different thermal modeling. Such a small average error shows the accuracy of the software for simulation and calculating the temperature. <b> Conclusions</b> : This simulating software has a good ability to be used as a treatment planning software for superficial lasers. Thus, it can be used for the optimization of treatment parameters and protocols

Impact of Consanguineous Marriages in GJB2-Related Hearing Loss in the Iranian Population: A Report of a Novel Variant

Mutations in GJB2 and GJB6 genes are the main causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populations. Here, we investigated GJB2 and GJB6 mutations in 114 patients from 77 affected ARNSHL families including 54 consanguineous marriages and 23 nonrelative marriages in the Iranian population. Clinical studies and genetic counseling were performed for all families. GJB2 and GJB6 genes were directly sequenced. Three known GJB6 large deletions del(GJB6-D13S1830), del(GJB6-D13S1854), and a 920 kb deletion were also checked by quantification of a common deleted region within the GJB6 gene. The frequency of consanguinity was 70.13% among the studied families. Biallelic GJB2 mutations were 16.67% in consanguineous marriages and 4.35% in nonrelative marriages. Mutations found were 35delG, delE120, R127H, M163V, W24X, V37I, G12D, V84A, 313-326del14, and E110K. The latter was a novel variant. Neither point mutation nor a large deletion in the GJB6 gene was found in the population. Mean frequency of GJB2 mutations was 17.92%. GJB2 mutations (and not GJB6 mutations) are the major causes of hearing loss in Iran. The role of consanguineous marriages is also highlighted in occurrence of GJB2-related hearing loss. We suggest that other genes may be involved in the population

Homozygosity mapping and CDH23 mutation analysis in Iranian deaf families

Objective: Cadherin-related 23 (CDH23) gene encodes a cell�cell adhesion protein which is required for the proper development of hair cells. Previous studies have shown that different mutations in this gene are associated with Usher syndrome, autosomal recessive nonsyndromic deafness (DFNB12) and age-related hearing loss. In this study the contribution of CDH23 mutations in hearing loss has been investigated. Study design: The homosygosity mapping, using microsatellite markers linked to DFNB12 locus was performed for a population of 45 GJB2 negative Iranian families with autosomal recessive non-syndromic form of hearing loss. Coding region and exon-intron boundaries of all 69 exons of the CDH23 gene were investigated using Sanger sequencing. Results: The homozygosity mapping showed co-segregation of the hearing loss with four STR markers linked to the DFNB12 locus in one family. Assessing pathogenicity of identified variations in this gene showed that previously reported mutation c.2968G > A (p.Asp990Asn) can be the cause of hearing loss in this family. Conclusion: This study suggests that CDH23 mutations may have a significant role in causing hearing loss in Iran. More studies should be performed to determine frequency of this gene in the Iranian population. © 2016 International Association of Physicians in Audiology