Source:http://linkedlifedata.com/resource/pubmed/id/16774934
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
12
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pubmed:dateCreated |
2006-11-27
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pubmed:abstractText |
Fifty single-nucleotide polymorphisms (SNPs) associated with amino acid changes in 36 genes involved in diverse DNA repair pathways were assessed for associations with risk for small cell lung carcinoma (SCLC) by a case-control study consisting of 211 SCLC cases and 685 controls. An SNP, Val83Met, in the MTH1 (microtT homolog 1) gene encoding a triphosphatase that hydrolyzes pro-mutagenic oxidized nucleoside triphosphates, such as 8-hydroxy-dGTP and 2-hydroxy-dATP, showed the strongest and a significant association with SCLC risk [odds ratio (OR)=1.6, 95% confidence interval (CI): 1.2-2.2, P=0.004], while three other SNPs in the TP53, BLM and SNM1 genes, respectively, also showed marginal associations (0.05<P<0.1). Another SNP, which causes a nucleotide change in the 5'-UTR of MTH1 transcripts leading to alternative translation initiation, was additionally examined and the SNP also showed a significant association (OR=1.7, 95% CI: 1.2-2.3, P=0.002). The two SNPs in the MTH1 gene were in linkage disequilibrium, and the OR for carrying a copy of the haplotype consisting of both the risky SNP alleles was 2.0 (95% CI: 1.2-3.2, P=0.002). The present results indicate that inter-individual differences in MTH1 activities due to SNPs are involved in susceptibility to SCLC.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0143-3334
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pubmed:author |
pubmed-author:EguchiTakashiT,
pubmed-author:GotoKoichiK,
pubmed-author:HiroseHiroshiH,
pubmed-author:KohnoTakashiT,
pubmed-author:KuchibaAyaA,
pubmed-author:KunitohHideoH,
pubmed-author:MimakiSachiyoS,
pubmed-author:NishiwakiYutakaY,
pubmed-author:OhkiMisaoM,
pubmed-author:OhtaTsutomuT,
pubmed-author:SaitoDaizoD,
pubmed-author:SaitoRyuseiR,
pubmed-author:SakiyamaTokukiT,
pubmed-author:Sasaki-MatsumuraRumieR,
pubmed-author:SobueTomotakaT,
pubmed-author:ToyamaKaoruK,
pubmed-author:YamamotoSeiichiroS,
pubmed-author:YanagitaniNorikoN,
pubmed-author:YokotaJunJ
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pubmed:issnType |
Print
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pubmed:volume |
27
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2448-54
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pubmed:meshHeading |
pubmed-meshheading:16774934-Adult,
pubmed-meshheading:16774934-Aged,
pubmed-meshheading:16774934-Amino Acid Substitution,
pubmed-meshheading:16774934-Carcinoma, Small Cell,
pubmed-meshheading:16774934-Case-Control Studies,
pubmed-meshheading:16774934-DNA Repair Enzymes,
pubmed-meshheading:16774934-Exons,
pubmed-meshheading:16774934-Female,
pubmed-meshheading:16774934-Humans,
pubmed-meshheading:16774934-Lung Neoplasms,
pubmed-meshheading:16774934-Male,
pubmed-meshheading:16774934-Middle Aged,
pubmed-meshheading:16774934-Phosphoric Monoester Hydrolases,
pubmed-meshheading:16774934-Polymorphism, Single Nucleotide,
pubmed-meshheading:16774934-Reference Values,
pubmed-meshheading:16774934-Risk Factors,
pubmed-meshheading:16774934-Smoking
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pubmed:year |
2006
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pubmed:articleTitle |
Association of polymorphisms in the MTH1 gene with small cell lung carcinoma risk.
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pubmed:affiliation |
Center for Medical Genomics, Tokyo, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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