Journal Article

Genetic polymorphisms in DNA repair genes and possible links with DNA repair rates, chromosomal aberrations and single-strand breaks in DNA

Pavel Vodicka, Rajiv Kumar, Rudolf Stetina, Somali Sanyal, Pavel Soucek, Vincent Haufroid, Maria Dusinska, Miroslava Kuricova, Maria Zamecnikova, Ludovit Musak, Jana Buchancova, Hannu Norppa, Ari Hirvonen, Ludmila Vodickova, Alessio Naccarati, Zora Matousu and Kari Hemminki

in Carcinogenesis

Volume 25, issue 5, pages 757-763
Published in print May 2004 | ISSN: 0143-3334
Published online May 2004 | e-ISSN: 1460-2180 | DOI: http://dx.doi.org/10.1093/carcin/bgh064
Genetic polymorphisms in DNA repair genes and possible links with DNA repair rates, chromosomal aberrations and single-strand breaks in DNA

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We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A → C, K751Q), XPG (exon 15 G → C, D1104H), XPC (exon 15 A → C, K939Q), XRCC1 (exon 10 G → A, R399Q) and XRCC3 (exon 7 C → T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population. We also measured the irradiation-specific DNA repair rates and the repair rates of 8-oxoguanines in these individuals. An elevated frequency of CAs was observed in individuals with the XPD exon 23 A allele (AA and AC) genotypes (F = 3.6, P = 0.028, ANOVA). In multifactorial analysis of variance, the XPD exon 23 polymorphism appeared as a major factor influencing CAs (F = 4.2, P = 0.017). SSBs in DNA, on the other hand, were modulated by XPD (F = 4.3, P = 0.023), XPG (F = 4.3, P = 0.024) and XRCC1 genotypes (F = 3.0, P = 0.064). Irradiation-specific DNA repair rates (reflecting mainly base excision repair activity) were affected by XRCC1 (F = 5.9, P = 0.010) and XPC polymorphisms (F = 4.2, P = 0.046, MANOVA). Our results from this study suggest that markers of genotoxicity are associated with polymorphisms in genes encoding DNA repair enzymes.

Keywords: BER, base excision repair; BPDE, benzo[a]pyrene diol epoxide; CAs, chromosomal aberrations; NER, nucleotide excision repair; SCEs, sister chromatid exchanges; SSBs, single-strand breaks; SSBs–EndoIII sites, SSBs–endonuclease III sites

Journal Article.  6160 words.  Illustrated.

Subjects: Clinical Cytogenetics and Molecular Genetics

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