New single nucleotide variation in the promotor region of androgen receptor [AR] gene in hypospadic patients

Hypospadias is one of the most common congenital abnormalities in the male which is characterized by altered development of urethra, foreskin and ventral surface of the penis. Androgen receptor gene plays a critical role in the development of the male genital system by mediating the androgens effects. In present study, we looked for new variations in androgen receptor promotor and screened its exon 1 for five single nucleotide polymorphisms [SNP] in healthy and hypospadias Iranian men. In our study, at first DNA was extracted from patients [n=100] and controls [n=100] blood samples. Desired fragments of promoter and exon 1 were amplified using polymerase chain reaction. The promoter region was sequenced for the new variation and exone 1 screened for five SNPs [rs139767835, rs78686797, rs62636528, rs62636529, rs145326748] using restriction fragment length polymorphism technique. The results showed a new single nucleotide variation [CT] at -480 of two patients' promoter region [2%]. None of the mentioned SNPs were detected in patients and controls groups [0%].This finding indicates that new single nucleotide polymorphism in androgen receptor promoter may have role in etiology of hypospadias and development of this anomaly

Association of CALHM1 gene polymorphism with late onset Alzheimer's disease in Iranian population

Alzheimer's disease [AD] is a genetically heterogeneous neurodegenerative disease and Late-Onset type [LOAD] is the most common form of dementia affecting people over 65 years old. CALHM1 [P86L] encodes a transmembrane glycoprotein that controls cytosolic Ca[2+] concentrations and A beta levels and P86L polymorphism in this gene is significantly associated with LOAD in independent case controls in a number of studies. This study was performed to determine whether this polymorphism contributes to the risk for LOAD in Iranian population. One hundred and forty one AD patients and 141 healthy controls were recruited in this study. After extraction of genomic DNA, the genotype and allele frequencies were determined in case and control subjects using PCR/RFLP method. The statistical analysis showed a significant difference in the heterozygote genotype frequency in case and control groups and polymorphic allele had a protective role between two groups. Also after stratifying the subjects by their APOE-epsilon status, no significant association was observed. Our study suggests that P86L polymorphism could be a protective factor for late-onset Alzheimer's disease [LOAD] in Iranian population. However, to confirm these results, further study with a bigger sample size may be required

Lack of association between tumor necrosis factor-alpha -308 C/A polymorphism and risk of developing late-onset alzheimer's disease in an Iranian population

Late-onset Alzheimer's Disease [LOAD] is a neurodegenerative disorder and the most common form of dementia affecting people over 65 years old. Alzheimer's disease is a complex disease with multi-factorial etiology. Inflammation has been approved to have an important role in the pathogenesis of Alzheimer's disease [AD]. TNF-alpha is a main pro-inflammatory cytokine that plays an essential role in initiation and regulation of inflammatory responses. Several studies have shown the probable association of polymorphism at TNF-alpha gene's promoter with AD pathogenesis. This study was performed to determine whether this polymorphism contributes to the risk for late-onset Alzheimer's disease [LOAD] in Iranian population. One hundred and forty AD patients and 158 healthy controls were recruited in the study. Following extraction of genomic DMA, using PCR/RFLP methods the genotype and allele frequencies were determined in case and control subjects. The statistical analysis showed no significant difference in the allele and genotype frequencies due to this polymorphism between the two groups. Also after stratifying the subjects by their APOE-epsilon 4 status, no significant association was observed. Our results suggest that Tumor necrosis factor-alpha [TNF-alpha] -308 C/A is not a risk or protective factor for late-onset Alzheimer's disease in Iranian population. However, to confirm these results further study with a bigger sample size may be required