Association between rs6759298 and ankylosing spondylitis in iranian population

Background: Ankylosing Spondylitis [AS] is a chronic autoinflammatory Spondyloarthropathy [SpA] which is characterized by sacroiliitis, which progresses to the axial skeleton. It seems that non-Human Leukocyte Antigen [HLA] and also HLA-B27 are associated with the susceptibility and pathogenesis of the disease. The recent Genome- Wide Association Studies [GWASs] have reported intergenic rs6759298 to be associated with AS etiology. The aim of this study was investigation of the rs6759298 polymorphism in Iranian AS patients. In addition, probable correlations with clinical indices and manifestations were considered

Methods: This study included 403 patients with AS. The control group consisted of 506 healthy individuals who were matched for sex, age, and ethnicity with AS group. Genotyping of rs6759298 was determined using the Amplification-Refractory Mutation System-Polymerase Chain Reaction [ARMS-PCR]

Results: The GG genotype and G allele were found to be significantly more prevalent in the patient group in comparison to the control group [[p=2×10[-6] and 7.44×10[-9]; OR [95% CI] =2.16 [1.56-2.98] and 1.73 [1.43-2.08]],respectively

Conclusion: No associations were found between patients with three genotypes and any disease manifestations or clinical indices. This investigation confirmed a highly significant association of rs6759298 with disease susceptibility, with no effect on disease progress or clinical presentations. Since rs6759298 belongs to the 2p15 gene desert, further studies would elucidate the exact role of this polymorphism in the pathogenesis of AS

miR-31 and miR-145 as potential non-invasive regulatory biomarkers in patients with endometriosis

Objective: Endometriosis is a prevalent gynecologic disease affecting 10% of women in reproductive age. Endometriosis is diagnosed by laparoscopy that was followed by histologic confirmation. Early diagnosis will lead to a more effective treatment with much less morbidity. As miR-31 and miR-145 are shown to be directly or indirectly correlated to biological processes involved in endometriosis, the aim of this study was to examine the association of miR-31 and miR-145 expression in plasma with the presence of endometriosis

Materials and Methods: In this case control study, the plasma samples of 55 patients with endometriosis and 23 women without endometriosis were collected, extracted and analyzed by real time quantitative polymerase chain reaction [qPCR] for the expression of miR-145 and miR-31

Results: Our findings showed that miR-31 expression levels in stage 3 or 4 and stage 1 or 2 were significantly down- regulated [less than 0.01-fold, P<0.05], while the expression level of miR-145 was significantly up-regulated in women with endometriosis in stage 1 or 2

Conclusion: Different cellular biological processes, such as differentiation, proliferation, mitochondrial function, reactive oxygen species [ROS] production, invasion and decidualization, are deregulated in endometriosis. miR-31 and miR-145 are microRNAs [miRNAs] with potential roles, as shown in pathologies like cancers. We found that miR- 31 was under-expressed in patients with endometriosis, while miR-145 was over-expressed in stage 1 or 2, indicating that they were relatively down-regulated in the more severe forms. Our findings suggested that these two miRNAs may be considered as potential biomarkers with probable implications in early diagnosis and even follow-up of patients with endometriosis

[Identification of nucleotide changes of two known causative genes [BRCA2 and STK11] of hereditary breast cancer in an Iranian family using exome sequencing]

Since the identification of the two highly penetrant dominantly inherited genes, BRCA1/2, in the 1990s, a number of other genes have been identified which account for approximately 25% of the genetic basis for hereditary breast cancer. At least 75% are unidentified. The goal of this study is to investigate the presence or absence of a recessive pattern of inheritance in this heterogeneous disease whose possibility has been previously discussed by researchers. In this study we used exome sequencing as the most recent approach for identification of the genetic basis of any disease. The results of exome sequencing were confirmed by Sanger sequencing. Although we did not find any homozygous mutation in this family, however a heterozygous 4bp deletion that led to a frame shift mutation was identified in exon 11 of the BRCA2 gene. Also identified was a heterozygous single nucleotide polymorphism in exon 9 of the STK11 gene. The rs80359352 variation identified in this family is one of the frequent pathogenic mutations in the BRCA2 gene that has been reported in the BIC database. This variation has been previously observed in other ethnic populations such as Caucasians, Hispanics and the Chinese. In this study, for the first time, we report this mutation in Iranian population and its segregation in hereditary breast cancer