Current Issue : October - December Volume : 2018 Issue Number : 4 Articles : 6 Articles
Background: Breast cancer is the most common cancer in women. Histopathology\nplays an important part in determining the treatment strategy for\nwomen with breast cancer. GSTP1 plays an important role in protecting cells\nfrom cytotoxic and carcinogenic agents and it is expressed in normal tissues at\nvariable levels in different cell types. CDH1 plays a critical role for establishment\nand maintenance of polarity and differentiation of epithelium during\nthe development period. Also, it plays an important role in signal transduction,\ndifferentiation, gene expression, cellmotility and inflammations. Methods:\nIn this study the promoter methylation levels of GSTP1 and CDH1\ngene which are associated with breast cancer were investigated by technique\nof Methylation Sensitive High Resolution Melting Analysis (MS-HRM). We\nanalysed primary tumor core biopsies from 80 high-risk primary breast cancer\npatients (tumors � 2 cm and/or lymphatic metastase and/or distant metastases\nand/or under 40 years). Also the patients� histopathologic types were associated\nwith the methylation levels. Results: In our study the promoter hypermethylation\nstatus was observed at different rates; GSTP1 and CDH1 hypermethylation\nfrequencies were 82% and 95% respectively. The promoter\nhypermethylation levels of the genes were found to be significant with lymph\nnode positivity, ER positivity and HER2/neu negativity. Conclusion: Our\nstudy is important as being the first study that analyzes association between\nhistopathologic type and GSTP1 and CDH1 gene promotor methylation status\nin Turkish population....
Purpose. Large artery atherosclerosis (LAA) ischemic stroke (IS) is the most common IS subtype, and microemboli are clinically\nimportant for indicating an increased risk of IS. Nucleotide-binding domain-like receptor protein 3 (NLRP3) plays a crucial role\nin the pathogenesis of atherosclerosis. The aim of this study is to investigate the relationship between NLRP3 gene polymorphisms\nand susceptibility for LAA IS and microembolic signals (MES) in the Chinese Han population. Methods. We studied 293 patients\ndiagnosed with LAAIS and 265 controls.TranscranialDoppler (TCD) was used tomonitor theMESin all of the patients.Depending\non the presence or absence of MES, the patients were divided into MES-positive and MES-negative subgroups. PCR-RFLP or direct\nsequencingwere used to analyze threeNLRP3 gene polymorphisms. Results. Seventy-six patients presentedwith MES and the MESpositive\nrate was 25.94%. Logistic regression analysis showed that the TT genotype frequency for the rs4612666 gene polymorphism\nwas higher in study patients than in the controls (adjusted ...
Hearing loss (HL) is a common sensory disorder in humans with high genetic heterogeneity. To date, over 145 loci have been\nidentified to cause nonsyndromic deafness. Furthermore, there are countless families unsuitable for the conventional linkage\nanalysis. In the present study, we used a custom capture panel (MiamiOtoGenes) to target sequence 180 deafness-associated genes\nin 5 GJB2 negative deaf probands with autosomal recessive nonsyndromic HL from Iran. In these 5 families, we detected one\nreported and six novel mutations in 5 different deafness autosomal recessive (DFNB) genes (TRIOBP, LHFPL5, CDH23, PCDH15,\nand MYO7A).The customcapture panel in our study provided an efficient and comprehensive diagnosis for known deafness genes\nin small families....
Background. Nucleotide excision repair (NER) plays a critical role in maintaining genome integrity. This study aimed to investigate\nthe expression of NER genes and their associations with colorectal cancer (CRC) development. Method. Expressions of NER genes\nin CRC and normal tissues were analysed by ONCOMINE. The Cancer Genome Atlas (TCGA) data were downloaded to explore\nrelationship of NER expression with clinicopathological parameters and survival of CRC. Results. ERCC1, ERCC2, ERCC5, and\nDDB2 were upregulated while ERCC4 was downregulated in CRC. For colon cancer, high ERCC3 expression was related to better T\nstage; ERCC5 expression indicated deeper T stage and distant metastasis; DDB2 expression suggested earlier TNM stage. For rectal\ncancer, ERCC2 expression correlated with favourable T stage; XPA expression predicted worse TNM stage. ERCC2 expression was\nassociated with worse overall survival (OS) in colon cancer (HR = 1.53, ...
Alcohol consumption is a major health issue and associated with human cancers,\nsuch as liver and breast cancers. Alcohol was classed as carcinogen to\nhuman by IARC. We have performed in vivo and in vitro studies which\ndemonstrate that diluted ethanol promotes cell proliferation and transformation\nand tumor formation. Consumption of liquor spirits (white wines) is a\npopular behavior. However, it is unclear whether liquor spirits affect cellular\nphenotypes of human cancers. At present study, we used diluted ethanol and\nliquor spirits (Sample #1 and Sample #2) to determine the changes in RNA\npolymerase III-dependent gene (Pol III gene) transcription, cell growth and\ncolony formation in the different human cancer lines. The results indicate that\nlow concentration of ethanol increases RNA Pol III gene transcription and\nrate of cell growth. However, both liquor spirits (Sample #1 and Sample #2)\ninhibit the activity of RNA Pol III genes and repress cell proliferation of the\ncancer lines, compared to diluted ethanol. The liquor spirits reduce the rate of\ncolony formation of human breast cancer cells and esophageal carcinoma\ncells. The inhibitions of the liquor spirits to RNA Pol III genes, cell growth\nand colony formation are in a dose-dependent manner. These new findings\nsuggest that the liquor spirits contain some active components to repress Pol\nIII gene transcription and cell growth caused by ethanol in different human\ncancer cells....
Neonatal hyperbilirubinemia (NH) is a common finding in newborn babies in Indonesia. Common and rare variants of UGT1A1\nhave been known to contribute to NH etiology. This study aims to identify UGT1A1 genetic variation and haplotype associated with\nNH in Indonesian population. DNA was isolated from 116 cases and 115 controls and a targeted-deep sequencing approach was\nperformed on the promoter, UTRs, and exonic regions of UGT1A1. Determining association of common variants and haplotype\nanalysis were performed using PLINK and Haploview. Ten and 4 rare variants were identified in cases and controls, respectively.\nThe UGT1A1 rare variants frequency in cases (5.17%) was higher than that in controls (1.7%). Four of those rare variants in cases\n(p.Ala61Thr, p.His300Arg, p.Lys407Asn, and p.Tyr514Asn) and three in controls (p.Tyr79X, p.Ala346Val, and p.Thr412Ser) are novel\nvariants. The frequencies of p.Gly71Arg, p.Pro229Gln, and TA7 common variants were not significantly different between cases and\ncontrols. A haplotype, consisting of 3 major alleles of 3...
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