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  • 1
    Keywords: ASSOCIATION, BLOOD, BREAST-CANCER, CANCER, case-control studies, case-control study, CHILDHOOD, chil
    Abstract: Background. Inherited genetic variants in critical genes can putatively modulate susceptibility to childhood acute lymphoblastic leukemia (ALL). Methods. We used allelic discrimination method to genotype 19 polymorphisms in the transforming growth factor-beta 1 (TGF-beta 1), transforming growth factor-beta receptor 1 (TGF-beta R1) and transforming growth factor-beta receptor 2 (TGF-beta R2) genes in 460 cases of childhood acute ALL and 552 ethnically matched control,. The genotyped polymorphisms included functional and tagging variants to cover the three genes in entirety. We used multidimensionality reduction (MDR) method to test effect of multiple genes on disease susceptibility. In order to increase statistical power and detect susceptibility variants not directly genotyped in this study, we used imputation using HapMap data. Results. None of the genotyped polymorphisms or the consequent haplotypes showed my association with risk modulation. The results, however, did show a marginal association (odds ratio OR 0.76, 95% confidence interval CI 0.59-0.97) of the variant allele for the rs10417924 polymorphism located at 3'untranslated region of the TGF-beta 1 gene with the B-cell lineage ALL. No other polymorphism showed any association with childhood ALL susceptibility. A signal of marginal significance for the rs10417924 polymorphism in the TGF-beta 1 gene in B-cell lineage ALL showed up with both MDR and imputation techniques. Conclusion. These data rule out the role of polymorphisms in the TGF-beta 1, TGF-beta R1 and TGF-beta R2 genes in Susceptibility to childhood ALL. However, for B-lineage ALL, the role of the rs10417924 polymorphism in TGF-beta 1 gene needs further investigation. Pediatr Blood Cancel 2009;52:819-823. (C) 2009 Wiley-Liss, Inc
    Type of Publication: Journal article published
    PubMed ID: 19229971
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  • 2
    Keywords: CANCER ; EXPOSURE ; RISK ; POLYMORPHISMS ; SUSCEPTIBILITY ; REPAIR ; MARKERS ; LYMPHOCYTES ; DNA-DAMAGE ; GSTT1
    Abstract: Nonspecific chromosomal aberrations (CAs) are found in about 1% of lymphocytes drawn from healthy individuals. They include chromosome-type aberrations (CSAs), which are increased in exposure to ionizing radiation, and chromatid-type aberrations (CTAs) which in experimental systems are formed by DNA binding carcinogens and mutagens. The frequency of CAs is associated with the risk of cancer, but the causes of CAs in general population are unknown. Here, we want to test whether variants in metabolic genes associate with CAs in healthy volunteers. Cases were considered those whose total CA (CAtot) frequency was 〉2% and for CSA and CTA the limit was 〉1%. Controls had lower frequencies of CAs. Functional polymorphisms in seven genes were selected for analysis: cytochrome P450 1B1 (CYP1B1), epoxide hydrolase 1 (EPHX1), NAD(P)H:quinone oxidoreductase 1 (NQO1), each coding for phase 1 enzymes, and glutathione S-transferase P1 (GSTP1), glutathione S-transferases M1 (GSTM1) and T1 (GSTT1), coding for enzymes which conjugate reactive metabolites, that is, phase 2 enzymes. The number of volunteers genotyped for each gene varied from 550 to 1,500. Only EPHX1 was individually associated with CAtot; high activity genotypes decreased CAtot. A total of six significant (P 〈 0.01) pair-wise interactions were observed, most including a GST variant as one of the pair. In all genotype combinations with significant odds ratios for CAs a GST variant was involved. The present data provide evidence that variants in genes coding for metabolic enzymes, which individually have small effects, interact and are associated with CA frequencies in peripheral lymphocytes of healthy volunteers. (c) 2015 Wiley Periodicals, Inc.
    Type of Publication: Journal article published
    PubMed ID: 25622915
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  • 3
    ISSN: 1432-1084
    Keywords: Becker dystrophy ; Duchenne dystrophy ; High-energy phosphates ; 31P MR spectroscopy ; Principal component analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A total of 14 boys with the Duchenne and Becker forms of muscular dystrophy (DMD, BMD) were examined using 31P magnetic resonance (MR) spectroscopy; 12 boys were examined repeatedly. The results were correlated with clinical findings (including those of genetic tests) and with data obtained from examinations of an age-matched control group. Evaluation of results using principal component analysis revealed maximum variability in the following ratios: phosphocreatine/inorganic phosphate (PCr/Pi), phosphocreatine/phosphodiesters (PCr/PDe) and phosphocreatine/phosphomonoesters (PCr/PMe). A decrease in PCr/Pi correlates with weakness of the hip girdle and of the lower part of the shoulder girdle in DMD/BMD patients. The values of all ratios in the group of patients with the DMD phenotype differ significantly from results obtained in the group with the BMD phenotype. Continoous follow-up of patients using 31P MR spectroscopy revealed a marked decrease in PCr/Pi in DMD/BMD patients at an age that could be expected in subjects with a typical clinical course of DMD/BMD. An attempt to manage a concomitant disease with prednisone and carnitene was followed by an increase in PCr/Pi in 3 cases. A rise in the PCr/Pi ratio signalled clinical improvement in the patients. A decrease in PCr/Pi was found after controlled physical training, a finding consistent with data obtained from clinical observations describing an adverse effect of physical stress on the dystrophic process.
    Type of Medium: Electronic Resource
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