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Status: Bibliographieeintrag

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Verfasst von:Verdier, Petra J. de [VerfasserIn]   i
 Sanyal, Somali [VerfasserIn]   i
 Lorenzo Bermejo, Justo [VerfasserIn]   i
 Steineck, Gunnar [VerfasserIn]   i
 Hemminki, Kari [VerfasserIn]   i
 Kumar, Rajiv [VerfasserIn]   i
Titel:Genotypes, haplotypes and diplotypes of three XPC polymorphisms in urinary-bladder cancer patients
Verf.angabe:Petra J. de Verdier, Somali Sanyal, Justo Lorenzo Bermejo, Gunnar Steineck, Kari Hemminki, Rajiv Kumar
E-Jahr:2010
Jahr:29 September 2010
Umfang:6 S.
Fussnoten:Gesehen am 15.09.2023
Titel Quelle:Enthalten in: Mutation research. Fundamental and molecular mechanisms of mutagenesis
Ort Quelle:Amsterdam : Elsevier, 1964
Jahr Quelle:2010
Band/Heft Quelle:694(2010), 1/2 vom: Dez., Seite 39-44
ISSN Quelle:1879-2871
Abstract:PURPOSE: The XPC gene is involved in DNA damage recognition in the nucleotide excision repair pathway (NER). We investigated the additive effects of single nucleotide polymorphisms (SNPs) in bladder-cancer patients and population controls for three XPC polymorphisms: A499V (C>T), K939Q (A>C), and poly AT (PAT, -/+). - EXPERIMENTAL DESIGN: 311 bladder-cancer patients from a population-based cohort and 337 population controls were genotyped using the PCR-restriction fragment length polymorphism (RFLP) technique. - RESULTS: We found complete linkage between the K939Q (A>C) and PAT (-/+) polymorphisms and therefore only the K939Q (A>C) polymorphism was included in analyses. The over all estimated odds ratio was 1.7 (95% CI 1.3-2.4) for A499V (C>T) and 1.4 (95% CI 1.0-2.0) for K939Q (A>C). The associated odds ratio increase with the variant allele homozygotes was six-fold for the A499V (C>T) and three-fold for the K939Q (A>C) polymorphism (OR=5.7, 95% CI 3.4-9.5 and OR=2.6, 95% CI 1.3-5.6, respectively). The variant allele haplotype of the two polymorphisms (T₄₉₉C₉₃₉) was associated with a nearly four fold increased odds ratio compared to the common allele haplotype (C₄₉₉A₉₃₉) (OR=3.6, 95% CI:1.9-6.9). Combined genotype analysis showed an increased disease association with increasing number of variant alleles (p<0.0001), with a dominant effect of the A499V polymorphism. In addition we observed association of the disease with increasing number of variant alleles for the A499V polymorphism and an early age at diagnosis (p=0.004). - CONCLUSIONS: Our results suggest an association between the XPC genotypes of the A499V, K939Q and PAT polymorphisms and urinary-bladder cancer. We propose a poly-allelic effect of these polymorphisms where the cumulative effect on disease becomes higher than the individual allelic effects.
DOI:doi:10.1016/j.mrfmmm.2010.09.003
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext: https://doi.org/10.1016/j.mrfmmm.2010.09.003
 DOI: https://doi.org/10.1016/j.mrfmmm.2010.09.003
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:Adult
 Aged
 Aged, 80 and over
 Alleles
 DNA-Binding Proteins
 Female
 Genetic Linkage
 Genotype
 Haplotypes
 Homozygote
 Humans
 Male
 Middle Aged
 Polymorphism, Genetic
 Urinary Bladder Neoplasms
K10plus-PPN:1859701175
Verknüpfungen:→ Zeitschrift

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