当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Genetic polymorphism 609C>T in NAD(P)H:quinone oxidoreductase 1 enhances the risk of proximal colon cancer.

Genetic polymorphism 609C>T in NAD(P)H:quinone oxidoreductase 1 enhances the risk of proximal colon cancer.

Abstract：

UNLABELLED:Gastrointestinal (GI) cancer is responsible for the majority of deaths among all types of cancer. Lifestyle factors may not only be the main risk factor for GI cancer but reactive oxygen species (ROS) may also be involved. The single-nucleotide polymorphisms (SNPs) 609C>T (rs1800566) and 465C>T (rs1131341) in the NAD(P)H:quinone oxidoreductase 1 (NQO1) gene lead to a decline in NQO1 enzyme activity. NQO1 catalyzes the two-electron reduction of quinones to hydroquinones, thereby preventing the formation of ROS. Such polymorphisms in NQO1 may increase the risk of GI cancer. The aim of this study was to evaluate the influence of the SNPs rs1800566 and rs1131341 in the NQO1 gene on the risk of GI cancer in the Netherlands. Real-time polymerase chain reaction techniques were conducted to determine the NQO1 genotypes of 1457 patients with GI cancer and 1457 age- and gender-matched controls in a case-control study. Binary logistic regression analyses showed no statistically significant difference in genotype distributions between patients and controls: odds ratios (ORs) with 95% confidence interval (CI) for rs1800566 were 1.09 (0.93-1.28) and 1.17 (0.77-1.77) for the CT and TT genotypes, respectively. ORs for rs1131341 CT and TT genotypes were 1.21 (0.90-1.63) and 0.54 (0.05-5.94), respectively. For rs1800566, a significant association between the CT genotype and proximal colon cancer was detected (OR=1.60; 95% CI=1.09-2.35). The NQO1*2 T allele of SNP rs1800566 was found associated with an increased risk for proximal colorectal cancer, whereas SNP rs1131341 was rare in our Dutch population and was not associated with GI cancer.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Freriksen JJ,Salomon J,Roelofs HM,Te Morsche RH,van der Stappen JW,Dura P,Witteman BJ,Lacko M,Peters WH

doi

10.1038/jhg.2014.38

subject

Has Abstract

pub_date

2014-07-01 00:00:00

pages

381-6

issue

7

eissn

1434-5161

issn

1435-232X

pii

jhg201438

journal_volume

59

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

    abstract：:Mature-onset diabetes of the young, type 2 (MODY2) is associated with mutations in the glucokinase (GCK) gene that result in impaired glucokinase activity. Although more than 200 inactivating GCK mutations have been reported, only less than 20% of these mutations have been functionally characterized. In this work, we ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-008-0271-5

    authors： Estalella I,Garcia-Gimeno MA,Marina A,Castaño L,Sanz P

    更新日期：2008-01-01 00:00:00

  • Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion.

    abstract：:Cystic fibrosis is a hereditary disease that mostly affects the sweat glands, respiratory system, digestive system, and reproductive system. Many and various types of mutations have been reported in CFTR in different ethnicities and countries/regions. Analysis of CFTR gene rearrangements is recommended in patients wit...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00859-w

    authors： Duz MB,Ozyavuz Cubuk P

    更新日期：2021-03-01 00:00:00

  • Hair roots as an mRNA source for mutation analysis of Usher syndrome-causing genes.

    abstract：:mRNA is an important tool to study the effects of particular mutations on the mode of splicing and transcripts. However, it is often difficult to isolate mRNA because the organ or tissue in which the gene is expressed cannot be sampled. We previously identified two probable splicing mutations (c.6485+5G>A and c.8559-2...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.83

    authors： Nakanishi H,Ohtsubo M,Iwasaki S,Hotta Y,Mizuta K,Mineta H,Minoshima S

    更新日期：2010-10-01 00:00:00

  • GNE myopathy in Chinese population: hotspot and novel mutations.

    abstract：:GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the bi-functional enzyme critical for sialic acid biosynthesis. In this study, we summarized the clinical features, pathological characteristics, and genetic profiles ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0525-9

    authors： Chen Y,Xi J,Zhu W,Lin J,Luo S,Yue D,Cai S,Sun C,Zhao C,Mitsuhashi S,Nishino I,Xu M,Lu J

    更新日期：2019-01-01 00:00:00

  • The ADD1 G460W polymorphism is not associated with variation in blood pressure in Canadian Oji-Cree.

    abstract：:Since adducin modulates cellular sodium retention, its follows that ADD1, which encodes the alpha-subunit of adducin, is an attractive candidate gene for blood pressure variation. Association studies examining the relationship between polymorphism at ADD1 codon 460 (G460W) and both hypertension and blood pressure, whi...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050148

    authors： Busch CP,Harris SB,Hanley AJ,Zinman B,Hegele RA

    更新日期：1999-01-01 00:00:00

  • Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).

    abstract：:Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal, recessively inherited disease caused by mutations in the MLC1 gene. Most of the previously published studies have been carried out in ethnic populations other than the Chinese. In this study, the analysis of clinical features and MLC1 mu...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.146

    authors： Wang J,Shang J,Wu Y,Gu Q,Xiong H,Ding C,Wang L,Gao Z,Wu X,Jiang Y

    更新日期：2011-02-01 00:00:00

  • Search for active endogenous retroviruses: identification and characterization of a HERV-E gene that is expressed in the pancreas and thyroid.

    abstract：:To elucidate possible physiological functions of human endogenous retroviruses (HERVs) and their role in the pathogenesis of human diseases, we have developed a strategy to identify transcriptionally active HERV genes. By this approach, we have identified and isolated an active HERV-E gene that was mapped to 17q11. Al...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170012

    authors： Shiroma T,Sugimoto J,Oda T,Jinno Y,Kanaya F

    更新日期：2001-01-01 00:00:00

  • Dinucleotide repeat polymorphism in the first intron of the CSR gene.

    abstract：:The CSR (cellular stress response) gene encodes a protein that structurally resembles the macrophage scavenger receptor, and is a potent regulator of intracellular reactive oxygen intermediates. We found a polymorphic dinucleotide repeat in the first intron of the CSR gene. This polymorphism will be a useful genetic m...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050074

    authors： Han HJ,Nakamura Y

    更新日期：1998-01-01 00:00:00

  • Association of a G994 --> T (Val279 --> Phe) polymorphism of the plasma platelet-activating factor acetylhydrolase gene with myocardial damage in Japanese patients with nonfamilial hypertrophic cardiomyopathy.

    abstract：:Plasma platelet-activating factor acetylhydrolase (PAF-AH) acts as a key defense against oxidative stress by hydrolyzing PAF and oxidized phospholipids. Deficiency of the activity of this enzyme may thus potentially result in predisposition to myocardial damage. The possible role of the G994 (V allele) --> T (F allele...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170042

    authors： Yamada Y,Ichihara S,Izawa H,Tanaka M,Yokota M

    更新日期：2001-01-01 00:00:00

  • Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.

    abstract：:Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients fr...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/s10038-017-0386-7

    authors： Kim YM,Seo GH,Jung E,Jang JH,Kim SZ,Lee BH

    更新日期：2018-03-01 00:00:00

  • Allelic structures at hypervariable minisatellite B6.7 in Japanese show population specificity.

    abstract：:Human minisatellite B6.7 shows extensive allele length and structural variability in north Europeans. We analysed this locus in the Japanese population. Allele size distributions showed that Japanese retain extensive allele length variability but have significantly smaller alleles compared with north Europeans. In con...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200031

    authors： Mizukoshi T,Tamaki K,Azumi J,Matsumoto H,Imai K,Jeffreys AJ

    更新日期：2002-01-01 00:00:00

  • Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia.

    abstract：:Childhood-onset schizophrenia (COS) is a rare form of schizophrenia with an onset before 13 years of age. There is rising evidence that genetic factors play a major role in COS etiology, yet, only a few single gene mutations have been discovered. Here we present a diagnostic whole-exome sequencing (WES) in an Israeli ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00846-1

    authors： Alkelai A,Shohat S,Greenbaum L,Schechter T,Draiman B,Chitrit-Raveh E,Rienstein S,Dagaonkar N,Hughes D,Aggarwal VS,Heinzen EL,Shifman S,Goldstein DB,Kohn Y

    更新日期：2021-03-01 00:00:00

  • Identification of three missense mutations in the peroxisome proliferator-activated receptor alpha gene in Japanese subjects with maturity-onset diabetes of the young.

    abstract：:We screened the protein-coding region of the peroxisome proliferator-activated receptor alpha gene (PPARA) and the flanking intron sequences for mutations in 57 unrelated Japanese subjects with maturity-onset diabetes of the young (MODY). We found three missense mutations, designated P22R, D140Y, and V227A. The D140Y ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170080

    authors： Hara M,Wang X,Paz VP,Iwasaki N,Honda M,Iwamoto Y,Bell GI

    更新日期：2001-01-01 00:00:00

  • Erratum to: Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.

    abstract：:The name Fon-Jou Hsieh was inadvertently omitted from the list of authors. The name should be added as the third author of the article. ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,已发布勘误

    doi：10.1007/s10038-006-0367-8

    authors： Lai LP,Su YN,Hsieh FJ,Chiang FT,Juang JM,Liu YB,Ho YL,Chen WJ,Yeh SJ,Wang CC,Ko YL,Wu TJ,Ueng KC,Lei MH,Tsao HM,Chen SA,Lin TK,Wu MH,Lo HM,Huang SKS,Lin JL

    更新日期：2006-03-01 00:00:00

  • Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease.

    abstract：:Fabry disease is a genetic disorder caused by a deficiency of α-galactosidase A (GLA). In our previous studies, we structurally investigated Fabry disease using a structural analysis system, and revealed that structural changes in GLA are very important for understanding the molecular basis of this disease. To the bes...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.31

    authors： Saito S,Ohno K,Sakuraba H

    更新日期：2011-06-01 00:00:00

  • De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

    abstract：:MEIS2 aberrations are considered to be the cause of intellectual disability, cleft palate and cardiac septal defect, as MEIS2 copy number variation is often observed with these phenotypes. To our knowledge, only one nucleotide-level change-specifically, an in-frame MEIS2 deletion-has so far been reported. Here, we rep...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/jhg.2016.54

    authors： Fujita A,Isidor B,Piloquet H,Corre P,Okamoto N,Nakashima M,Tsurusaki Y,Saitsu H,Miyake N,Matsumoto N

    更新日期：2016-09-01 00:00:00

  • Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene.

    abstract：:Examination of the carrier state was performed in 744 unrelated mothers of the Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) probands with identified mutations in the dystrophin gene. Owing to that it was possible to assess frequency and type of new mutations in the gene. Contrary to the Japanese obs...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2017.70

    authors： Zimowski JG,Pawelec M,Purzycka JK,Szirkowiec W,Zaremba J

    更新日期：2017-10-01 00:00:00

  • Assessment of the contribution of the LOC387715 gene polymorphism in a family with exudative age-related macular degeneration and heterozygous CFH variant (Y402H).

    abstract：:Age-related macular degeneration (AMD) is a common cause of visual impairment in the elderly population in developed countries. The etiology of AMD is not completely understood but environmental and genetic factors have been implicated in the disease. Recently it has been documented that variations in the complement f...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0120-y

    authors： Shastry BS

    更新日期：2007-01-01 00:00:00

  • De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis.

    abstract：:The expansion of polyalanine repeats is known to cause at least nine disorders, including congenital central hypoventilation syndrome (CCHS). Unequal crossover has been speculated as the expanding mechanism, in contrast to strand slippage in polyglutamine expansion disorders. We carried out segregation analysis of PHO...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0197-3

    authors： Arai H,Otagiri T,Sasaki A,Hashimoto T,Umetsu K,Tokunaga K,Hayasaka K

    更新日期：2007-01-01 00:00:00

  • PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure.

    abstract：:PlexinA is a neuronal receptor protein that facilitates axon guidance during embryogenesis. This gene is associated with several neurological disorders including Alzheimer's disease, Parkinson's disease and autism. However, the effect of variants of PlexinA on brain structure remains unclear. We demonstrate that singl...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2014.107

    authors： Belyk M,Kraft SJ,Brown S,Pediatric Imaging, Neurocognition and Genetics Study.

    更新日期：2015-03-01 00:00:00

  • Genetic differences in the two main groups of the Japanese population based on autosomal SNPs and haplotypes.

    abstract：:Although the Japanese population has a rather low genetic diversity, we recently confirmed the presence of two main clusters (the Hondo and Ryukyu clusters) through principal component analysis of genome-wide single-nucleotide polymorphism (SNP) genotypes. Understanding the genetic differences between the two main clu...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.26

    authors： Yamaguchi-Kabata Y,Tsunoda T,Kumasaka N,Takahashi A,Hosono N,Kubo M,Nakamura Y,Kamatani N

    更新日期：2012-05-01 00:00:00

  • New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.

    abstract：:Congenital myopathies (CMs) are a heterogeneous group of muscle diseases characterized by hypotonia, delayed motor skills and muscle weakness with onset during the first years of life. The diagnostic workup of CM is highly dependent on the interpretation of the muscle histology, where typical pathognomonic findings ar...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.2

    authors： Oliveira J,Gonçalves A,Taipa R,Melo-Pires M,Oliveira ME,Costa JL,Machado JC,Medeiros E,Coelho T,Santos M,Santos R,Sousa M

    更新日期：2016-06-01 00:00:00

  • The pharmacogenomics of valproic acid.

    abstract：:Valproic acid is an anticonvulsant and mood-stabilizing drug used primarily in the treatment of epilepsy and bipolar disorder. Adverse effects of valproic acid are rare, but hepatotoxicity is severe in particular in those younger than 2 years old and polytherapy. During valproic acid treatment, it is difficult for pre...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/jhg.2017.91

    authors： Zhu MM,Li HL,Shi LH,Chen XP,Luo J,Zhang ZL

    更新日期：2017-12-01 00:00:00

  • A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.

    abstract：:Hypohidrotic ectodermal dysplasia (HED) is characterized by severe hypohidrosis, hypotrichosis, and hypodontia. It can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns. Mutations in the EDA gene, which encodes ectodysplasin-A, are responsible for X-linked HED (XLHED). In the present study,...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0071-8

    authors： Huang C,Yang Q,Ke T,Wang H,Wang X,Shen J,Tu X,Tian J,Liu JY,Wang QK,Liu M

    更新日期：2006-01-01 00:00:00

  • Retrotransposal integration of mobile genetic elements in human diseases.

    abstract：:Approximately one-third of the mammalian genome is composed of highly repeated DNA sequences, of which the two major families, the long and short inter-spersed nucleotide elements (LINEs and SINEs), are represented in humans by L1 and Alu elements respectively. Both 'types of element are considered to be retrotranspos...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s100380050045

    authors： Miki Y

    更新日期：1998-01-01 00:00:00

  • Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.

    abstract：:L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive neurometabolic disorder characterized essentially by the presence of elevated levels of L-2-hydroxyglutaric acid (LGA) in plasma, cerebrospinal fluid and urine. L2HGA is caused by a deficiency in the L2-Hydroxyglutaric dehydrogenase (L2HGDH) enzyme involve...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2014.4

    authors： Jellouli NK,Hadj Salem I,Ellouz E,Kamoun Z,kamoun F,tlili A,Kaabachi N,Triki C,Fakhfakh F,Tunisian Network on Mental Retardation study.

    更新日期：2014-04-01 00:00:00

  • A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing.

    abstract：:We report a family with progressive myoclonic epilepsy who underwent whole-exome sequencing but was negative for pathogenic variants. Similar clinical courses of a devastating neurodegenerative phenotype of two affected siblings were highly suggestive of a genetic etiology, which indicates that the survey of genetic v...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-019-0569-5

    authors： Mizuguchi T,Suzuki T,Abe C,Umemura A,Tokunaga K,Kawai Y,Nakamura M,Nagasaki M,Kinoshita K,Okamura Y,Miyatake S,Miyake N,Matsumoto N

    更新日期：2019-05-01 00:00:00

  • Genetic effects have a dominant role on poor responses to infant vaccination to hepatitis B virus.

    abstract：:The objective of this study was to investigate the overall contribution of genetic and environmental effects on poor response to hepatitis B virus (HBV) vaccination in Chinese infants. One-year-old healthy twins were recruited from child-care settings. Parental factors, neonates' condition at birth, postnatal infant f...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.18

    authors： Yan K,Cai W,Cao F,Sun H,Chen S,Xu R,Wei X,Shi X,Yan W

    更新日期：2013-05-01 00:00:00

  • Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity.

    abstract：:This article describes a multiplex allele-specific PCR (AS-PCR) approach for detection of an A to G mutation occurring in the human mitochondrial 12s RNA gene at nucleotide 1555. Possession of this mutation has been shown to be associated with irreversible hearing loss following administration of aminoglycoside antibi...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050184

    authors： Scrimshaw BJ,Faed JM,Tate WP,Yun K

    更新日期：1999-01-01 00:00:00

  • Genetic associations and expression of extra-short isoforms of disrupted-in-schizophrenia 1 in a neurocognitive subgroup of schizophrenia.

    abstract：:Disrupted-in-schizophrenia 1 (DISC1) was reported to be associated with schizophrenia. In a previous study, we found significant association with schizophrenia patients with deficient sustained attention assessed by continuous performance test (CPT). This study aimed to identify risk polymorphisms in this specific neu...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-019-0597-1

    authors： Liu CM,Liu YL,Hwu HG,Fann CS,Yang UC,Hsu PC,Chang CC,Chen WJ,Hwang TJ,Hsieh MH,Liu CC,Chien YL,Lin YT,Tsuang MT

    更新日期：2019-07-01 00:00:00