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This meta-analysis aimed to investigate the association of the rs9939609 FTO gene polymorphism and body fat percentage (BF%). To the best of our knowledge, this study is the first meta-analysis to evaluate the relationship between FTO rs9939609 polymorphism and BF%. We searched PubMed, Web of science, Scopus and Embase to identify studies investigating the relations between the rs9939609 FTO gene polymorphism and BF%. Studies that meet inclusion criteria were collected for the final analysis. There was significant differences in the level of BF% between different genotypes of FTO rs9939609 polymorphism, and the carriers of the A allele of FTO rs9939609 polymorphism had higher BF%. The association was significant between carriers of TT genotype compared to carriers of AA (p =.007) and AT genotypes (p =.04), but not between AT and AA genotypes. This study identified that the carriers of the A allele of FTO rs9939609 polymorphism have higher BF%. [ABSTRACT FROM AUTHOR]

Long noncoding RNAs (lncRNAs) are emerging as the master regulators of tumor initiation, proliferation, and metastasis; however, their diagnostic value as potential biomarkers should be clarified. Vitamin D influences the expression of several genes in various pathways, including the CYP24A1 gene in the vitamin D metabolism pathway. In the present research, we surveyed the expression levels and clinical significance of novel lncRNAs related to CYP24A1 and PFDN4 genes in colorectal cancer (CRC) using real‐time polymerase chain reaction. Furthermore, we assessed the expression of these genes after vitamin D treatment in HCT‐116 and HT‐29 colon cancer cell lines. Our results indicated that the transcription of CYP24A1, PFDN4, and nearby lncRNAs was affected by vitamin D treatment in HCT‐116 and HT‐29 cell lines. Moreover, CYP24A1, PFDN4, lnc‐CYP24A1‐3:1, and lnc‐TSHZ2‐19:1 were upregulated and had the potential to distinguish colorectal cancer tissues from the adjacent tissues by the large area under the receiver operating characteristic curve (0.94, 0.66, 0.70, and 0.60, respectively). lnc‐TSHZ2‐19:1 expression level significantly correlated with gender (p =.03). In conclusion, CYP24A1, PFDN4, lnc‐CYP24A1‐3:1, and lnc‐TSHZ2‐19:1 can be used as potential diagnostic biomarkers in the specific and sensitive assessment of CRC. Besides this, vitamin D treatment may modulate the expression of these genes in a cell‐specific manner. [ABSTRACT FROM AUTHOR]

Aim In recent years, a few cases of chronic myeloid leukemia (CML) have been reported with both BCR-ABL and JAK2V617F mutations. Moreover, mutations in the additional sex comb-like 1 ( ASXL1) gene were recently shown in various myeloid malignancies.There were no previous studies investigating the incidence of the ASXL1 and JAK2V617F mutations in Iranian patients with CML. Consequently, this study focuses on the analysis of these mutations in patients with CML. Methods In total, 66 patients with a clinical diagnosis of CML were examined at the time of diagnosis. Thirty healthy subjects were checked as controls. Exon 12 of ASXL1 was amplified from genomic DNA and bidirectionally sequenced. We also performed JAK2V617F screening by amplification refractory mutation system-polymerase chain reaction and sequencing. Results Mutations in the ASXL1 gene were found in five out of 66 CML patients (7.6%). We identified a novel variant (c.1968G > A, p.Asp656Asn) in one of the patients that has not been reported before. We also identified BCR-ABL and JAK2V617F mutations simultaneously in four patients (6%). Conclusion Our demonstration of ASXL1 mutation, a putative tumor suppressor gene, represents an important molecular abnormality in CML. We also showed that concomitant detection of BCR-ABL and JAK2V617F mutations has a relatively high incidence in Iranian patients. [ABSTRACT FROM AUTHOR]

In breast cancer, somatic mutations of PIK3CA oncogene are common. We investigated the mutational status of exons 9 and 20 of the PIK3CA gene by polymerase chain reaction and direct sequencing in 80 breast tumors, and observed that 45% of these contained PIK3CA mutations in the mentioned exons. These mutations were found more in progesterone receptor positive and Her2- tumors, but this association did not reach a statistically significant level. Also, we observed a significant association between PIK3CA mutations and low-grade tumors. In our study, PIK3CA mutations were related to good and moderate prognosis in breast cancer patients. [ABSTRACT FROM AUTHOR]

The role of FTO genotype in the effect of FTO gene expression level on change in body mass index and body composition has not been studied. This study aimed to investigate the role of FTO genotype in the association between change in the expression level of the FTO gene with changes in anthropometric measurements in obese and overweight adolescent boys. Eighty-four boys aged 12 to 16 years participated in this longitudinal study. A bioimpedance analyzer (BIA) was used to estimate percentage of body fat (%body fat) and percentage of skeletal muscle (%skeletal muscle). The FTO gene expression level in peripheral blood mononuclear cells (PBMCs) was assessed using quantitative Real Time PCR (qPCR). The DNA samples were genotyped for the FTO gene polymorphisms by DNA sequencing. All measurements were performed at baseline and after intervention. A significant association was observed between the level of gene expression and %skeletal muscle. The gene expression fold change was significantly associated with change in %skeletal muscle in AA or AG genotype carriers (β = 0.34, p = .02). No significant association was detected between the change in FTO gene expression with change in anthropometric indices in GG genotype carriers. In conclusion, the association between FTO gene expression and body composition can be influenced by FTO genotype. Future studies are required to assess the interactions between FTO genotype, FTO gene expression in different tissues, and body composition. [ABSTRACT FROM AUTHOR]

Aim: In recent years, a few cases of chronic myeloid leukemia (CML) have been reported with both BCR-ABL and JAK2V617F mutations. Moreover, mutations in the additional sex comb-like 1 (ASXL1) gene were recently shown in various myeloid malignancies.There were no previous studies investigating the incidence of the ASXL1 and JAK2V617F mutations in Iranian patients with CML. Consequently, this study focuses on the analysis of these mutations in patients with CML., Methods: In total, 66 patients with a clinical diagnosis of CML were examined at the time of diagnosis. Thirty healthy subjects were checked as controls. Exon 12 of ASXL1 was amplified from genomic DNA and bidirectionally sequenced. We also performed JAK2V617F screening by amplification refractory mutation system-polymerase chain reaction and sequencing., Results: Mutations in the ASXL1 gene were found in five out of 66 CML patients (7.6%). We identified a novel variant (c.1968G > A, p.Asp656Asn) in one of the patients that has not been reported before. We also identified BCR-ABL and JAK2V617F mutations simultaneously in four patients (6%)., Conclusion: Our demonstration of ASXL1 mutation, a putative tumor suppressor gene, represents an important molecular abnormality in CML. We also showed that concomitant detection of BCR-ABL and JAK2V617F mutations has a relatively high incidence in Iranian patients., (© 2016 John Wiley & Sons Australia, Ltd.)