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Objective: The long non-coding RNA (lncRNA) H19 is an imprinted lncRNA with acknowledged roles in carcinogenesis., Methods: In the current study, we genotyped two single nucleotide polymorphisms (SNPs) within H19 in 111 breast cancer patients and 130 age-matched healthy subjects using tetra primer-ARMS-PCR technique. The T allele of rs2839698 conferred breast cancer risk in the assessed population (OR (95% CI) = 2.52 (1.75-3.64), adjusted P value = 1.3E-6), while and the T allele of rs217727 had a protective effect (OR (95% CI) = 0.42 (0.27-0.66), adjusted P value = 2.8E-4). Both SNPs were associated with breast cancer risk in recessive, dominant and co-dominant models. The T C haplotype (rs2839698 and rs217727) significantly increased risk of breast cancer (OR (95% CI) = 2.4 (1.65-3.45), adjusted P value = 1.2E-5), while the C T haplotype had a protective role (OR (95% CI) = 0.31 (0.18-0.52), adjusted P value = 2.03E-5). The present study highlights the role of H19 SNPs in conferring risk of breast cancer in Iranian population. Future studies with larger sample sizes are required to verify these data., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Prostate cancer (PCa) and benign prostate hyperplasia (BPH) as two prevalent age-related disorders in male have some shared genetic and immunological underlying mechanisms. However, researchers have aimed at identification of specific biomarkers with the ability to differentiate between these disorders. In the present study, we genotyped the rs4073, rs2227306 and rs1126647 single nucleotide polymorphisms within IL-8 gene in 530 individuals including 130 PCa patients, 200 BPH patients and 200 male controls. The rs2227306 alleles and genotypes were distributed equally in the three study groups. The frequency of the A allele of the rs4073 was significantly lower in PCa group compared with BPH group (OR (95% CI) = 0.62 (0.46-0.84), adjusted P value = 0.006). This allele was negatively associated with PCa risk in dominant model (OR (95% CI) = 0.53 (0.34-0.83), adjusted P value = 0.02). When comparing PCa and BPH groups, the rs1126647 was associated with PCa risk in recessive model (OR (95% CI) = 2.14 (1.23-3.72), adjusted P value = 0.02). The A T A haplotype (rs4073, rs2227306 and rs1126647 respectively) was less frequent in PCa group compared with BPH group (OR (95% CI) = 0.4 (0.22-0.75), adjusted P value = 0.03). Consequently, our data demonstrated significant differences in allele, genotype and haplotype frequencies of IL-8 variants between BPH and PCa patients which might imply distinct role for this chemokine in the pathogenesis of these disorders. Future studies are needed to elaborate the underlying mechanism of these observations., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Autism Spectrum Disorders (ASD) (MIM 209850) are a group of neurodevelopmental disorders distinguished by destructed social interaction and communication abilities along with peculiar repetitive behavior. Several genetic loci have been linked to this disorder. Vesicular monoamine transporter 1 (VMAT1/SLC18A1) is an attractive candidate gene for psychiatric disorders because of its participation in regulation monoamines. In the present case-control study, we evaluated the link between three non-synonymous single nucleotide polymorphisms (SNPs) (rs2270641 [Pro4Thr], rs2270637 [Thr98Ser] and rs1390938 [Thr136Ile]) and one intronic SNP (rs2279709) across the VMAT1 gene and ASD in a group of Iranian patients. Allele frequency analyses showed significant over-presentation of rs1390938-G allele in cases compared with controls (P<0.001). The analysis under different genetic models showed that the AA genotype of the rs1390938 was protective against ASD under dominant and recessive models. The rs2270641 SNP was associated with ASD risk only in over-dominant model. Other SNPs showed no significant difference in allele or genotype frequencies between two groups. Haplotype analysis revealed that C A T T and C A T G haplotypes (rs2270637, rs1390938, rs2279709 and rs2270641 respectively) have a protective effect against ASD. Consequently, the functional rs1390938 SNP in VMAT1 is associated with ASD in Iranian population. Considering the role of VMAT1 in regulation of monoamines, the dysregulated expression of this protein during early stages of brain development might be implicated in ASD., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Prostate cancer and benign prostate hyperplasia (BPH) are heterogeneous disorders with a wide array of clinical presentations and high prevalence among men. Several protein coding genes as well as non-coding genes have been shown to contribute in prostate cancer and BPH risk. Among non-coding genes whose contribution in tumorigenesis has been identified is HOX transcript antisense RNA (HOTAIR). In the present study we aimed at identification of the associations between three HOTAIR polymorphisms (rs12826786, rs1899663 and rs4759314) and risk of prostate cancer and BPH by the means of tetra-primer ARMS-PCR in a population of 128 Iranian prostate cancer patients, 143 BPH patients and 250 normal male controls. The study showed that rs1899663 T allele was associated with BPH risk. Comparison between prostate cancer and BPH groups showed that rs1899663 is associated with cancer risk in co-dominant, dominant and recessive inheritance models. The rs12826786 T allele was significantly more presented in both BPH and prostate cancer groups compared with healthy subjects. This SNP was associated with both BPH and prostate cancer risk in co-dominant and recessive models. However, rs4759314 showed no significant difference in allele or genotype frequencies between three mentioned groups. In addition, some haplotypes within this gene were associated with increased prostate cancer and BPH risk. Consequently, HOTAIR can be suggested as a risk locus for prostate cancer and BPH in Iranian population., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Autism Spectrum Disorders (ASD) are a group of heterogeneous neurodevelopmental disorders associated with immune system dysregulation. There are supporting evidences for the role of Forkhead Box P3 (FOXP3) gene as a lineage specification factor of regulatory T cells in the pathogenesis of ASD. The aim of this study was to explore possible relationship between genetic variants rs2232365 and rs3761548 of FOXP3 and ASD in 523 ASD patients versus 472 control individuals. Allele frequency analyses showed significant overpresentation of rs2232365-G allele in cases versus controls. In addition, rs2232365 GG genotype was associated with ASD in dominant inheritance model. Haplotype analysis revealed no significant association of any estimated block of rs2232365/rs3761548 with ASD. Our study indicated that rs2232365 is associated with ASD., (Copyright © 2016 Elsevier B.V. All rights reserved.)