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, rs 10818488 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 rs 10818488 [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

[Investigation of connexin 26 mutations and three large deletions spanning connexin 30 in 63 Iranian families with autosomal recessive non-syndromic hearing loss]

Hearing loss is the most frequent neurosensory defect in human. Mutations in GJB2 and GJB6 are responsible for 50% of autosomal recessive non-syndromic hearing loss [ARNSHL] cases. Here we report on the frequencies of GJB2 and GJB6 mutations and three large deletions spanning the GJB6 gene including Del [GJB6-D13S1830], Del [GJB6-D13S1854] and a>920 kb deletion in patients affected by ARNSHL referred to Kawsar's Human Genetics Research Center. In this study, 94 patients from 63 families with ARNSHL were investigated. Patient's homozygote for 35delG were screened and left out of the study and the remaining samples were analyzed by sequencing of GJB2 and GJB6 genes. Also the three large deletions spanning the GJB6 gene were analyzed by Real Time PCR In this study we found GJB2 mutations in 13 families [20.6%] out of 63.The 35delG mutation was the most common mutation in the studied population [61.5%]. Other GJB2 mutations were delE120, R127H, W24X, and V37I. The heterozygous or negative cases for the GJB2 mutations were screened for mutation in the GJB6 gene by sequencing and no mutation was observed. Also, we checked the three large deletions in GJB6, we found no mutations. Low frequency of mutations in the GJB2 gene implies that other genes may be involved in causing non-syndromic hearing loss in our country