<p>OBJECTIVETo investigate the association of the NAD(P)H: quinone oxidoreductase 1 (NQO1) C609T polymorphism with susceptibility to esophageal squamous cell carcinoma (ESCC) in a northern Chinese population.p><p>METHODSThe NQO1 C609T genotypes were determined by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) analysis in 193 patients with ESCC and 141 unrelated healthy controls.p><p>RESULTSThe frequency of the T allele (null) among ESCC patients was significantly higher than that among healthy controls (Chi-square=4.86, P=0.028). The NQO1 C/C and C/T genotype distribution among ESCC patients was not significantly different from that among healthy controls (Chi-square= 2.27 and 0.127; P=0.132 and 0.721, respectively). However, the T/T genotype frequency among ESCC patients was significantly higher than that among healthy controls (Chi-square=4.39, P=0.036). The NQO1 T/T genotype significantly increased the risk for developing ESCC, compared to the combination of C/C and C/T genotypes, with the adjusted odds ratio (OR) of 1.81 (95%CI: 1.04-3.15). This increased susceptibility exhibited pronouncedly in patients with family history of upper gastrointestinal cancers (adjusted OR=2.22, 95%CI 1.18-4.17).p><p>CONCLUSIONDetermination of the NQO1 C609T genotype may be used as a stratification marker to predicate high-risk individuals for ESCC.p>
Esophageal Neoplasms ; genetics ; Genetic Predisposition to Disease ; Genotype ; Humans ; NAD(P)H Dehydrogenase (Quinone) ; genetics ; Polymorphism, Genetic

Esophageal Neoplasms ; genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; NAD(P)H Dehydrogenase (Quinone) ; genetics ; Point Mutation ; Polymorphism, Genetic

<p>OBJECTIVETo investigate the association between the C609T polymorphism of NADP (H): quinoneoxidoreductase 1 (NQ01) gene and decreased cognitive function and sporadic Alzheimer's disease (AD) in a community cohort.p><p>METHODSPolymerase chain reaction (PCR), denaturing high performance liquid chromatography (DHPLC) and sequencing were used to determine the genotype of NQ01 in 110 subjects without cognitive dysfunction, 21 with cognitive dysfunction, and 65 AD patients from a community cohort.p><p>RESULTSSignificantly different distributions of C/T and T/T genotypes were found between MMSE normal and abnormal subjects (OR=2.8, 95%CI 0.96-8.18, P=0.024), and between AD patients and healthy controls (OR=3.27, 95% CI 1.54-6.94, P=0.001), respectively. The frequencies of T allele of NQ01 C609T were significantly higher in MMSE abnormal subjects and AD patients (P=0.034 and 0.005) as compared to normal controls.p><p>CONCLUSIONThe C609T polymorphism of NQ01 gene may be a genetic risk factor for cognitive dysfunction and sporadic AD in Chinese population.p>
Alzheimer Disease ; genetics ; Base Sequence ; Cognition Disorders ; genetics ; Molecular Sequence Data ; Mutation ; NAD(P)H Dehydrogenase (Quinone) ; genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Risk Factors ; Sequence Analysis, DNA

<p>OBJECTIVETo explore the relationship between genetic polymorphism of quinone oxidoreductase 1 (NQO1), glutathione S-transferase theta 1 (GSTT1), glutathiones S-transferase mu 1 (GSTM1) and susceptibility to chronic benzene poisoning (BP).p><p>METHODSThe genotypes of NQO1, GSTT1, GSTM1 for 100 patients with benzene poisoning and 90 workers exposed to benzene who were engaged in the same working time and job title as patients with benzene poisoning were detected by PCR-RFLP and multi-PCR.p><p>RESULTSThere was a 2.82-fold (95% CI: 1.42 approximately 5.58, P < 0.05) increased risk of BP in the subjects with NQO1 C609T mutation genotype (T/T) compared with those carrying heterozygous (C/T) and wild type (C/C), and there was a 2.94-fold (95% CI: 1.25 approximately 6.90, P < 0.05) increased risk of BP in the subjects with NQO1 C609T T/T genotype compared with those carrying C/C genotype. The subjects with GSTT1 null genotype had a 1.91-fold (95% CI: 1.05 approximately 3.45, P < 0.05) increased risk of BP compared with those with GSTT1 non-null genotype. The interaction of two genes showed that there was a increased risk of BP in subjects with any two genotypes of NQO1 C609T T/T genotype and GSTT1 null genotype and GSTM1 null genotype, compared to the individual with any two genotypes of NQO1 C609T C/C genotype and GSTT1 non-null genotype and GSTM1 non-null genotype. The interaction of three genes showed that there was a 20.41-fold (95% CI: 3.79 approximately 111.11, P < 0.01) increased risk of BP in subjects with NQO1 C609T T/T genotype and GSTT1 null genotype and GSTM1 null genotype compared with those carrying NQO1 C609T C/T genotype and C/C genotype and GSTT1 non-null genotype and GSTM1 non-null genotype.p><p>CONCLUSIONSThe interaction of multi-genes may be an important role to BP. The genetic polymorphisms of 3 genes (NQO1, GSTT1 and GSTM1) led to declining of detoxifying ability in benzene metabolism, so the individual with NQO1 C609T T/T genotype, GSTT1 null genotype and GSTM1 null genotype is most susceptive to benzene. The results were consistent with that of the theoretic presumption. It could be suggested as a biomarker to assess the risk of benzene poisoning for individuals.p>
Adult ; Aged ; Benzene ; poisoning ; Case-Control Studies ; Chronic Disease ; Female ; Genetic Predisposition to Disease ; Glutathione Transferase ; genetics ; Humans ; Male ; Middle Aged ; NAD(P)H Dehydrogenase (Quinone) ; genetics ; Polymorphism, Genetic

<p>OBJECTIVETo explore the relationship between quinone oxidoreductase1 (NQO1) gene nonsynonymous cSNP and the genetic susceptibility of esophageal cancer.p><p>METHODSPolymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and Allele-Specific PCR (AS-PCR) were employed to assess the polymorphism of NQO1 genes both in 106 patients with esophageal cancer and control subjects matched by age, gender and origin.p><p>RESULTSIt was shown that no C/C genotype was found at 406 of NQO1. The allelic frequency of NQO1 609T was significantly higher in patients with esophageal cancer than in the control subjects (P < 0.005) and the individuals with 609T allelic genotype of NQO1 gene were at greater risk to develop esophageal cancer (OR = 4.76, 95% CI = 1.064 - 3.397). But Individuals with mutant allele of NQO1 465 genotype did not show the rising risk of esophageal cancer.p><p>CONCLUSIONSThe NQO1 C609T polymorphisms should likely be associated with the genetic susceptibility of esophageal cancer.p>
Alleles ; China ; Esophageal Neoplasms ; ethnology ; genetics ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; NAD(P)H Dehydrogenase (Quinone) ; genetics ; Polymorphism, Single Nucleotide

<p>OBJECTIVETo detect the putative association between the polymorphism of human NAD(P)H: quinone oxidoreductase (NQO1) gene and Parkinson's disease(PD).p><p>METHODSPolymerase chain reaction-denaturing high performance liquid chromatography (PCR-DHPLC) was used to detect the polymorphism of monoamine NQO1 gene cDNA 609 site(C-->T). The frequencies of alleles and genotypes in different PD groups were compared with those of the control group.p><p>RESULTSIt was found that the frequencies of TT genotype in the patients with PD and in the controls were 0.226 and 0.118 respectively (P=0.004), i.e., TT genotype increased the risk of PD by 2.186-fold (P=0.005). When the patients with PD were divided into two groups by the age at onset, significant difference in the genotypic frequencies was observed only between late-onset PD group and control group (the frequencies of TT genotype being 0.260 and 0.118, P=0.001) and TT genotype increased the risk of late-onset PD by 2.627-fold(P=0.001). There were no significant differences in frequencies of alleles between different PD groups and control group.p><p>CONCLUSIONThis study revealed significant differences in genotypic frequencies between PD group and control group. The findings supported the hypothesis about an association between NQO1 gene and PD, suggesting that the age at onset of PD might be related to the putative association, and NQO1 cDNA C609T site be a risk factor for PD.p>
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Chromatography, High Pressure Liquid ; Genotype ; Humans ; Middle Aged ; NAD(P)H Dehydrogenase (Quinone) ; genetics ; Parkinson Disease ; genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic

Glutathione S-transferases (GSTs), superoxide dismutase 2 (SOD2) and NAD(P)H:quinone oxidoreductase 1 (NQO1) are anti-oxidant enzyme genes. Polymorphisms of GSTs, SOD2 and NQO1 have been reported to influence individual susceptibility to various diseases. In an earlier study, we obtained preliminary findings that a subset of glutathione S-transferase T1 (GSTT1)-wt patients with varicocele may exhibit good response to varicocelectomy. In this study, we extended the earlier study to determine the distribution of genotype of each gene in the infertile population and to evaluate whether polymorphism of these genes affects the results of surgical treatment of varicocele. We analyzed 72 infertile varicocele patients, 202 infertile patients without varicocele and 101 male controls. Genotypes of GSTs were determined by polymerase chain reaction (PCR). Genotyping of SOD2 and NQO1 was performed using the PCR-restriction fragment length polymorphism (PCR-RFLP) method. A significantly better response to varicocelectomy was found in patients with the GSTT1-wt genotype (63.2%) and NQO1-Ser/Ser genotype (80.0%) than in those with GSTT1-null genotype (35.3%) and NQO1-Pro/Pro or NQO1-Pro/Ser genotype (45.2%), respectively. The frequencies of glutathione S-transferase M1/T1, SOD2 and NQO1 genotypes did not differ significantly among the varicocele patients, idiopathic infertile patients and male controls. GSTT1 genotype is associated with improvement of semen parameters after varicocelectomy. As the number of patients with NQO1-Ser/Ser genotype was not sufficient to reach definite conclusions, the association of NQO1 genotype with varicocelectomy requires further investigation.
Adult ; Genotype ; Glutathione Transferase ; genetics ; Humans ; Infertility, Male ; etiology ; genetics ; surgery ; Male ; NAD(P)H Dehydrogenase (Quinone) ; genetics ; Polymorphism, Genetic ; Predictive Value of Tests ; Superoxide Dismutase ; genetics ; Treatment Outcome ; Varicocele ; complications ; genetics ; surgery

This study was purposed to investigate the relationship between NQO1C(609T), RAD51(G135C), XRCC3(C241T) single nucleotide polymorphisms and incidence of acute lymphoblastic leukemia (ALL). NQO1C(609T), RAD51(G135C), XRCC3(C241T) genotypes were detected by PCR-RFLP in 170 patients with de novo ALL and 458 normal persons as control. The results indicated that the genotype ratio of NQO1C(609T), RAD51(G135C) and XRCC3(C241T) in single genotype analysis showed no statistical difference between ALL patients and normal controls, which suggested that the single genotype affect onset of ALL without statistical significance. In combined genotype analysis, presence of both variants for NQO1C(609T) and RAD51(G135C) increased onset risk of ALL with myeloid antigen positive and with balanced translocation (OR value 5.553 and 2.618 respectively); the presence of homozygosity variant for NQO1C(609T) increased onset risk of ALL in the country-children (OR = 2.541). In conclusion, the combined effect of NQO1C(609T), RAD51(G135C) and XRCC3(C241T) genotypes may promote occurrence of ALL, which suggests that the combined analysis of 3 genotypes has more predictive significance for ALL than single genotype analysis.
Adolescent ; Adult ; Aged ; Case-Control Studies ; Child ; DNA Repair ; DNA-Binding Proteins ; genetics ; Female ; Humans ; Male ; Middle Aged ; NAD(P)H Dehydrogenase (Quinone) ; genetics ; Polymorphism, Single Nucleotide ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; genetics ; Rad51 Recombinase ; genetics ; Young Adult

<p>OBJECTIVETo investigate the relationship between GSTM1, GSTT1 and NQO1(C609T) genotypes and myelodysplastic syndromes (MDS) susceptibility and chromosome abnormalities.p><p>METHODSGSTT1, GSTM1 and NQO1(C609T) genotypes were detected in 52 MDS patients and 241 unrelated controls by PCR or PCR-RFLP.p><p>RESULTSThe incidence of GSTT1 and GSTM1 null genotype was significantly increased in MDS patients as compared with controls (P = 0.001 and P < 0.001, respectively). In individuals with GSTT1 and GSTM1 null genotype, the odds ratios for MDS risk were elevated to 2.873 (95% CI: 1.491-5.537) and 3.591 (95% CI: 1.717-7.508), respectively. A significantly increased frequency of GSTT(1) null genotype among MDS patients with normal karyotype and increased frequency of GSTM1 null genotype among MDS patients with chromosome abnormalities were found as compared to controls (OR = 5.336, P = 0.005 and P = 0.003, OR = 3.740, respectively). There was no difference in the incidence of NQO1(C609T) genotypes between MDS patients and controls.p><p>CONCLUSIONDetermination of the GSTM1 and GSTT1 genotypes may be used as a stratification marker to predicate high-risk individuals for MDS.p>
Adolescent ; Adult ; Aged ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Glutathione Transferase ; genetics ; Humans ; Male ; Middle Aged ; Myelodysplastic Syndromes ; genetics ; NAD(P)H Dehydrogenase (Quinone) ; genetics ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length

<p>OBJECTIVETo explore the relation between genetic polymorphisms of NQO1, GSTT1 and risks of chronic benzene poisoning (BP).p><p>METHODSA case-control study was conducted. 152 BP patients and 152 workers occupationally exposed to benzene without poisoning manifestations were investigated. Polymerase chain reaction (PCR), denaturing high-performance liquid chromatography(DHPLC) and sequencing were used to detect the single nucleotide polymorphisms(SNPs) of the promoter and complete coding-region of NQO1 gene. Multiple PCR was used to detect GSTT1 genotype.p><p>RESULTSIn smoking population, there was 7.73-fold (95% CI: 1.71-34.97, P = 0.010) of risk in BP subjects carrying NQO1c. 609 T/T genotype, compared with those carrying C/C and C/T. genotype. In drinking population, the individuals carrying the 6th extron of NQO1c. 609 T/T homozygote genotype had a 11.00-fold(95% CI: 1.89-63.83, P = 0.005) risk of BP compared to those with NQO1c. 609 C/T and C/C genotypes.p><p>CONCLUSIONThe subjects carrying NQO1c. 609 T/T genotype and together with the habit of smoking or drinking may be more susceptible to BP.p>
Benzene ; poisoning ; Case-Control Studies ; Ethanol ; adverse effects ; Genotype ; Glutathione Transferase ; genetics ; Humans ; NAD(P)H Dehydrogenase (Quinone) ; genetics ; Occupational Diseases ; genetics ; Occupational Exposure ; Polymorphism, Single Nucleotide ; Smoking ; adverse effects