ABSTRACT
         Background and objectives: 3' untranslated  region  (3'UTR) single  nucleotide  polymorphisms (SNPs) represent genetic variations that may potentially affect binding of miRNA to coding genes, potentially leading to complex disorders. We aimed to perform in silico analysis of the potential phenotypic effect of 3'UTR SNPs on human astrocyte elevated gene-1 (AEG-1), a newly identified candidate cancer gene.
         Methods: We gathered a list of all 3'UTR SNPs located in the human AEG-1 gene from the SNP database. Analysis of the potential effects was done using MirSNP and MicroSNiper.
         Results: Analysis by the MirSNP estimated that rs187728237 might increase the affinity of two miRNAs and decrease the affinity of 10 other miRNAs to the AEG-1 transcript. Moreover, MicroSNiPer showed that rs80320514 might affect 24 putative miRNA binding sites in the 3'UTR of AEG-1.
         Conclusion:  Based on our findings, it can be concluded that the 3'UTR SNPs located in the human AEG-1 gene may be within the miRNA targets of the transcript, therefore affecting the stability of putative miRNA-target interactions.
         Keywords: AEG-1, miRNA, SNPs, 3' Untranslated Region.

ABSTRACT
          Background and Objectives: Mycobacterium tuberculosis is the causative agent of pulmonary tuberculosis, a main public health problem that results in 1.5 million deaths annually. A number of epidemiological studies suggested that host genetic factors could play a main role in susceptibility to tuberculosis infection.
SP110 is an interferon-induced nuclear body protein with vital roles in apoptosis, cell cycling and immunity. SP110 gene has been suggested to be a suitable candidate for limiting TB infections. Thus, we investigated the possible association between SP110 gene polymorphisms and susceptibility to tuberculosis in the Golestan Province, Iran.
          Methods: We investigated the frequency of rs1135791 polymorphism of the SP110 gene among 100 pulmonary tuberculosis patients and 100 healthy individuals who were referred to the health centers in the Golestan Province (Iran) between 2014 and 2015. Frequency of genotypes was evaluated using amplification refractory mutation system-polymerase chain reaction.
          Results: The frequency distribution of TT, TC and CC genotypes among the patients was 65%, 31% and 4%, respectively. In the control group, the frequency distribution of TT, TC and CC genotypes was 56%, 46% and 7%, respectively. There was no significant difference in the frequency of rs1135791 between the patients with pulmonary tuberculosis and the healthy controls (P=0.42).
          Conclusion:  Based on the results, the SP110 rs1135791 variant is not a genetic risk factor for development of pulmonary tuberculosis in Golestan Province, Iran.
          Keywords: rs1135791T, Pulmonary tuberculosis, Golestan Province.

ABSTRACT
            Background and Objectives: Non-synonymous single nucleotide polymorphisms are typical genetic variations that may potentially affect the structure or function of expressed proteins, and therefore could be involved in complex disorders. A computational-based analysis has been done to evaluate the phenotypic effect of non-synonymous single nucleotide polymorphisms in the gene encoding the human hypoxanthine-guanine phosphoribosyltransferase (HGPRT-1). HGPRT-1 is an enzyme involved in purine recycling pathway and its deficiency is associated with several human genetic disorders.
            Methods: We provide a list of all amino acid replacements in the human HGPRT-1 from the dbSNP, Uniprot and dbEST databases. Sorting intolerant from tolerant (SIFT) and PolyPhen softwares were also used in our study.
            Results: Of 94 amino acid substitutions, rs 267606863 was predicted to be the most deleterious. Substitutions of S110L and S104A in flexible loop and D194N, D201Y, H204R, Y195C, F199V and H204D in hood domain were predicted as functionally damaging.
            Conclusion: It could be concluded that these intolerant changes may lie within a functional region of the protein and may affect the stability and folding of HGPRT-1. These variants could be used for future functional and molecular epidemiology studies of HGPRT-1-related disorders.
            Keywords: Polymorphism, Single Nucleotide, Amino acid substitution, Hypoxanthine Phosphoribosyltransferase.