Association Study of an AFF1 Gene Polymorphism (rs340630) with Iranian Systemic Lupus Erythematosus Patients.

AIM: To investigate whether an AFF1 polymorphism was associated with susceptibility and clinical features of SLE in Iranian patients. METHODS: A total of 320 patients with SLE and 330 age, sex and ethnically matched healthy control subjects were enrolled in the present study. Both cases and healthy controls were genotyped for rs340630 polymorphism located inside the AFF1using Amplification Refractory Mutation System-PCR (ARMS-PCR). In order to investigation of SNP association and clinical features of SLE, clinical manifestations of patients were recorded. The distributions of rs340630 genotypes were tested for deviation from Hardy-Weinberg in controls. Genotypic and allelic distribution between patients and controls were assessed by chi-squares test. The Odds Ratio (OR) and 95 % Confidence Intervals were calculated from multiple logistic regression analysis. MAJOR RESULTS: Both A and G alleles of rs340630were seen among the Iranian samples. All three genotypes of rs340630 were found, i.e., homozygous A/A (OR=1/01, 95%CI=%72 - 1/42, P= %99), homozygous G/G (OR=%92, 95%CI= %63 - 1/35, P=%77) and heterozygous A/G (OR=1/03, 95%CI= %76 - 1/41, P=%87). In the SLE group, the number of patients with renal disorder was significantly higher for the AG genotype compared to other genotypes of AFF1 polymorphism (P= 0.05). CONCLUSION: There was no association between AFF1 polymorphism (rs340630) and SLE. However, our findings indicated that AFF1 polymorphism (rs340630) was significantly (P=0.0045) correlated with renal disorder in Iranian population.

Prevalence of Methylenetetrahydrofolate Reductase C677T Polymorphism in women with Polycystic Ovary Syndrome in southeast of Iran.

Background: One of the notable enzymes in the metabolism of folate is Methylenetetrahydrofolate reductase enzyme, this enzyme is necessary for some biological mechanisms. Mutations in the MTHFR gene could reduce the enzyme activity. Aim: The objective of this research was to assess the prevalence of the very general polymorphism, C677T, in females with polycystic ovary syndrome in the southeastern of Iran. Methods: This research was a case-control research and was conducted on 112 PCOS women and 196 healthy controls. Single type nucleotide polymorphisms (SNP) were genotyped by employing the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: It noticed that in C677T, the pervasiveness of C/ C, C/ T, and T/ T genotypes was 54.5%, 34%, and 11.5%, respectively. The repetition of TT genotype was notably higher in PCOS women contrasted to controls. Conclusions: the appearance of 677T allele could be a danger agent for PCOS susceptibility in the southeast of Iran.

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

BACKGROUND: Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Affected individuals present with head circumferences more than three SDs below the age- and sex-matched population mean, associated with mild to severe mental retardation. Five genes (MCPH1, CDK5RAP2, ASPM, CENPJ, STIL) and two genomic loci, MCPH2 and MCPH4, have been identified so far. METHODS AND RESULTS: In this study, we investigated all seven MCPH loci in patients with primary microcephaly from 112 Consanguineous Iranian families. In addition to a thorough clinical characterisation, karyotype analyses were performed for all patients. For Homozygosity mapping, microsatellite markers were selected for each locus and used for genotyping. Our investigation enabled us to detect homozygosity at MCPH1 (Microcephalin) in eight families, at MCPH5 (ASPM) in thirtheen families. Three families showed homozygosity at MCPH2 and five at MCPH6 (CENPJ), and two families were linked to MCPH7 (STIL). The remaining 81 families were not linked to any of the seven known loci. Subsequent sequencing revealed eight, 10 and one novel mutations in Microcephalin, ASPM and CENPJ, respectively. In some families, additional features such as short stature, seizures or congenital hearing loss were observed in the microcephalic patient, which widens the spectrum of clinical manifestations of mutations in known microcephaly genes. CONCLUSION: Our results show that the molecular basis of microcephaly is heterogeneous; thus, the Iranian population may provide a unique source for the identification of further genes underlying this disorder.

Case-controlled study of the relationship between delivery method and incidence of post-partum urinary incontinence.

The protective role of caesarean section against urinary incontinence was investigated in this descriptive case-controlled study of 125 women with urinary incontinence who had been referred to obstetrics and gynaecology clinics in Tehran, Iran, compared with 125 control women without urinary incontinence. A gynaecologist visited all women to complete a questionnaire and episiotomy scar, stress incontinence, and severity of cystocele and rectocele were also determined. Data were analysed by Student's t-test for quantitative variables, the chi(2)-test for qualitative variables and logistic regression. Increased age and body mass index were found to be significant risk factors of urinary incontinence (bivariate and multivariate analyses). There were also significant relationships between urinary incontinence and gravidity, parity, delivery mode, episiotomy, type of caesarean section (elective or emergency), cystocele, rectocele and chronic constipation (bivariate analysis only). There was no relationship between urinary incontinence and fetal birth weight or maternal employment status. The results suggest that caesarean section can decrease the rate of urinary incontinence.

Association of the dopamine transporter gene (DAT1) core promoter polymorphism -67T variant with schizophrenia.

Dysfunction of the central dopaminergic neurotransmission has been suggested to play an important role in the etiology of schizophrenia. The dopamine transporter (DAT1) mediates the active reuptake of dopamine from the synapses and thereby plays a key role in the regulation of the dopaminergic neurotransmission. In this study, we sought to determine the possible association of the DAT1 gene core promoter polymorphism -67A/T with schizophrenia in a case/control study. The allele and genotype frequencies of the polymorphism were studied in 100 patients and 100 controls, which were matched on the basis of sex, age, and ethnicity. The genotype frequencies in the patients group were as follows: AA 29%; AT 59%; TT 12% versus the genotype frequencies in the control group: AA 57%; AT 38%; TT 5% [chi2 = 16.54, df = 2, OR = 2.25 (95% CI 1.46-3.45, P < or = 0.0003]. For the first time, these findings provide tentative evidence for the contribution of the DAT1 gene core promoter polymorphism to the etiopathophysiology of schizophrenia at least in the Iranian male population that we studied. Replication studies of independent samples and family-based association studies are necessary to further evaluate the significance of our findings.