Genotypes, haplotypes and diplotypes of three XPC polymorphisms in urinary-bladder cancer patients
(2010) In Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 694(1-2). p.39-44- 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... (More)
- 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 (C(499)A(939)) (OR=3 6 95% Cl 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 (C) 2010 Elsevier B V All rights reserved (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1815198
- author
- de Verdier, Petra J. ; Sanyal, Somali ; Bermejo, Justo Lorenzo ; Steineck, Gunnar ; Hemminki, Kari LU and Kumar, Rajiv
- organization
- publishing date
- 2010
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Urinary bladder cancer, Haplotypes, Polymorphisms, XPC
- in
- Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
- volume
- 694
- issue
- 1-2
- pages
- 39 - 44
- publisher
- Elsevier
- external identifiers
-
- wos:000285667900006
- scopus:78649451471
- pmid:20887739
- ISSN
- 1879-2871
- DOI
- 10.1016/j.mrfmmm.2010.09.003
- language
- English
- LU publication?
- yes
- id
- 508cefaf-e460-49b6-871c-e95669028f25 (old id 1815198)
- date added to LUP
- 2016-04-01 14:00:28
- date last changed
- 2022-01-27 22:22:27
@article{508cefaf-e460-49b6-871c-e95669028f25,
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 (C(499)A(939)) (OR=3 6 95% Cl 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 (C) 2010 Elsevier B V All rights reserved}},
author = {{de Verdier, Petra J. and Sanyal, Somali and Bermejo, Justo Lorenzo and Steineck, Gunnar and Hemminki, Kari and Kumar, Rajiv}},
issn = {{1879-2871}},
keywords = {{Urinary bladder cancer; Haplotypes; Polymorphisms; XPC}},
language = {{eng}},
number = {{1-2}},
pages = {{39--44}},
publisher = {{Elsevier}},
series = {{Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis}},
title = {{Genotypes, haplotypes and diplotypes of three XPC polymorphisms in urinary-bladder cancer patients}},
url = {{http://dx.doi.org/10.1016/j.mrfmmm.2010.09.003}},
doi = {{10.1016/j.mrfmmm.2010.09.003}},
volume = {{694}},
year = {{2010}},
}