Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE To study the potential links between genetic polymorphisms in the GSTT1, GSTM1, GSTP1 genes and the frequency of chromosomal aberrations (CAs) in lung cancer patients and healthy residents in Russian Federation. 28770368 2017
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Sister Chromatid Exchanges (SCEs) and Chromosomal Aberrations (CAs) assays, as well as genotyping of GSTT1 and GSTM1 genes, were performed. 26207596 2016
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE This study was conducted to determine the association between arsenic exposure and polymorphisms of genes involved in detoxification (glutathione S-transferase T1 [GSTT1], glutathione S-transferase M1 [GSTM1], glutathione S-transferase O2 [GSTO2], catalase [CAT], and NAD(P)H quinone oxidoreductase1 [NQO1]) as well as nonhomologous end joining DNA repair genes (XRCC4, XRCC5, and XRCC6) with induction of chromosomal aberrations. 25395496 2015
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE We performed the analysis of CA by trypsin G-banding, micronucleus (MN) assay, Comet assay and Xenobiotic-metabolizing gene polymorphisms (GSTM1, GSTT1 and GSTP1) in 56 exposed and 56 control subjects who were matched for gender and age (± 2 years). 24290889 2014
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE We observed that individuals having null genotype of GSTM1 and GSTT1 have significantly higher frequency of CAs and MN. 21843791 2011
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Both DNA adduct levels and chromosomal aberrations were tested for correlation with lifestyle and the polymorphisms of cytochromes P450 CYP1A1 and CYP1B1 as well as glutathione-S-transferases GSTM1 and GSTT1. 21193517 2011
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Combined analysis of chromosomal aberrations and glutathione S-transferase M1 and T1 polymorphisms in pathologists occupationally exposed to formaldehyde. 21360194 2011
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Individuals with null GSTM1, GSTT1, and GSTP1 (val/val) showed inhibition of mitotic index (MI) and significant (p < 0.01) induction of CA as compared to individuals with GSTM1, GSTT1, and GSTP1 (ile/ile). 19778234 2009
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE The CA frequency in exposed workers was influenced by the polymorphic genotypes: GSTM1 null (RR 1.33, 95% CI 1.31-1.69, p<0.001), XRCC1(194) Arg/Trp, Trp/Trp (RR 1.23, 95% CI 1.08-1.40, p<0.001) and by the wild genotypes CYP2E1 C1/C1 (RR 1.20, 95% CI 1.05-1.37, p<0.001), GSTT1 positive (RR 1.49, 95% CI 1.31-1.69, p<0.001), XRCC1(280) Arg/Arg (RR 1.44, 95% CI 1.26-1.64, p<0.001) and XRCC1(241) Thr/Thr (RR 1.54, 95% CI 1.34-1.76, p=0.001). 19481674 2009
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE To evaluate the role of polymorphisms in glutathione S-transferase (GST) M1 (GSTM1) and theta 1 (GSTT1) as effect modifiers of the association between CA and cancer risk. 19270789 2009
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE The initial study found that urine concentrations of the metabolites 1,2-dihydroxy-4-(acetyl) butane (M1) and 1-dihydroxy-2-(N-acetylcysteinyl)-3-butene (M2) and blood concentrations of the hemoglobin adducts N-[2-hydroxy-3-butenyl] valine (HB-Val) and N-[2,3,4-trihydroxy-butyl] valine (THB-Val) constitute excellent biomarkers of exposure, both being highly correlated with BD exposure levels, and that GST genotypes modulate at least one metabolic pathway, but that irreversible genotoxic effects such as chromosome aberrations and HPRT gene mutations are neither associated with BD exposure levels nor with worker genotypes (GST [glutathione-S-transferase]-M1, GSTT1, CYP2E1 (5' promoter), CYP2E1 (intron 6), EH [epoxide hydrolase] 113, EH139, ADH [alcohol dehydrogenase]2 and ADH3). 16949064 2007
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE We found a significant increase of chromosome aberrations in patients and controls that had the XPD 751Gln and GSTM1 null genotypes, indicating a mechanistic causation of the disease. 17019047 2006
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE In the present study, we investigated markers of genotoxicity [chromosomal aberrations (CAs) and single-strand breaks (SSBs)] in a cohort of 110 tire plant workers engaged in jobs with different levels of xenobiotic exposure in relation to various polymorphisms in genes coding for biotransformation enzymes (CYP1A1, CYP2E1, EPHX1, GSTM1, GSTP1, and GSTT1) and in genes involved in DNA repair (XPD exon 23, XPG exon 15, XPC exon 15, XRCC1 exon 10, and XRCC3 exon 7). 15470755 2004
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE The lack of glutathione S-transferase M1 (GSTM1 null genotype) is associated with increased sensitivity to genotoxicity of tobacco smoke, and GSTM1 null smokers also show an increased frequency of CAs and SCEs. 15093278 2004
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Chromosomal aberrations under basal conditions and after treatment with X-ray in human lymphocytes as related to the GSTM1 genotype. 11909761 2002
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE We found that among cigarette smokers (AR patients and smoker controls), individuals having the GSTM1 null allele had a significantly higher frequency of CAs compared to those with the normal allele (P < 0.05). 12355548 2002
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE For example, the presence of the GSTM1 null genotype (GSTM1 0/0) is responsible for the highest level and significant induction of CA, irrespective of the presence of other genotypes in the different donors. 11170238 2001
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Also, no significant differences between the two groups of individuals (GSTM1 positive and GSTM1 null) were observed for BLM-induced chromosomal aberrations. 10984680 2000
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE The influence of GSTM1 and GSTT1 genotypes on the induction of sister chromatid exchanges and chromosome aberrations by 1,2:3,4-diepoxybutane. 10708971 2000
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Individuals with a decreased rate of detoxification, i.e., lacking the glutathione S-transferase M1 gene, have a slightly higher level of bulky carcinogen-DNA adduct in some tissues, and do also have an increased level of chromosomal aberrations. 10633178 2000
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE The effect of the GSTM1 genotype, which was observed only in the bus drivers, appears to be associated with air pollution, whereas the NAT2 genotype effect, which affected all subjects, may influence the individual response to some other common exposure or the baseline level of chromosomal aberrations. 10207633 1999
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Cytogenetic markers (chromosomal aberrations, sister chromatid exchanges (SCE), cells with high frequency of SCE (HFC), the heterogeneity index SCE (SCE-H) and genetic polymorphism of genotypes GSTM1 and NAT2 were evaluated in the peripheral lymphocytes of 64 coke oven workers and 34 control subjects from the same plant. 9729241 1998
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Despite the limited number of subjects genotyped, the results seem to indicate an association between smoking induced CA frequencies and GSTM1 polymorphism, and a possible interaction between the GSTM1 and GSTT1 genotypes. 9093388 1997
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Chromosomal aberrations (gaps excluded) were significantly (P < 0.05) increased among the workers lacking the GSTT1 gene as compared to the BD workers with the gene, while the other polymorphic GSTM1 gene showed no association with the cytogenetic parameters. 8901885 1996
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE In addition, a possible interaction was observed between smoking and GSTM1 genotype in the CA assay, GSTM1 null smokers, earlier reported to have an elevated risk for lung cancer, showing higher CA frequencies than GSTM1 positive smokers. 8665871 1996