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DNA repair gene polymorphisms and chromosomal aberrations in healthy, nonsmoking population
Y. Niazi, H. Thomsen, B. Smolkova, L. Vodickova, S. Vodenkova, M. Kroupa, V. Vymetalkova, A. Kazimirova, M. Barancokova, K. Volkovova, M. Staruchova, P. Hoffmann, MM. Nöthen, M. Dusinska, L. Musak, P. Vodicka, A. Försti, K. Hemminki
Jazyk angličtina Země Nizozemsko
Typ dokumentu časopisecké články, multicentrická studie, práce podpořená grantem
- MeSH
- běloši genetika MeSH
- celogenomová asociační studie MeSH
- chromozomální aberace * MeSH
- DNA vazebné proteiny genetika MeSH
- dospělí MeSH
- enzymy opravy DNA genetika MeSH
- helikasy RecQ genetika MeSH
- helikáza Wernerova syndromu genetika MeSH
- jednonukleotidový polymorfismus * MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nekuřáci * MeSH
- oprava chybného párování bází DNA genetika MeSH
- oprava DNA genetika MeSH
- počítačová simulace MeSH
- poly(ADP-ribosa)polymerasy genetika MeSH
- replikační protein A genetika MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- zdraví dobrovolníci pro lékařské studie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
- Slovenská republika MeSH
Nonspecific structural chromosomal aberrations (CAs) can be found at around 1% of circulating lymphocytes from healthy individuals but the frequency may be higher after exposure to carcinogenic chemicals or radiation. The frequency of CAs has been measured in occupational monitoring and an increased frequency of CAs has also been associated with cancer risk. Alterations in DNA damage repair and telomere maintenance are thought to contribute to the formation of CAs, which include chromosome type of aberrations and chromatid type of aberrations. In the present study, we used the result of our published genome-wide association studies to extract data on 153 DNA repair genes from 866 nonsmoking persons who had no known occupational exposure to genotoxic substances. Considering an arbitrary cut-off level of P< 5 × 10-3, single nucleotide polymorphisms (SNPs) tagging 22 DNA repair genes were significantly associated with CAs and they remained significant at P < 0.05 when adjustment for multiple comparisons was done by the Binomial Sequential Goodness of Fit test. Nucleotide excision repair pathway genes showed most associations with 6 genes. Among the associated genes were several in which mutations manifest CA phenotype, including Fanconi anemia, WRN, BLM and genes that are important in maintaining genome stability, as well as PARP2 and mismatch repair genes. RPA2 and RPA3 may participate in telomere maintenance through the synthesis of the C strand of telomeres. Errors in NHEJ1 function may lead to translocations. The present results show associations with some genes with known CA phenotype and suggest other pathways with mechanistic rationale for the formation of CAs in healthy nonsmoking population.
Division of Cancer Epidemiology German Cancer Research Centre 69120 Heidelberg Germany
Division of Medical Genetics Department of Biomedicine University of Basel 4003 Basel Switzerland
Division of Pediatric Neurooncology German Cancer Research Center 69120 Heidelberg Germany
GeneWerk GmbH Im Neuenheimer Feld 582 6910 Heidelberg Germany
Citace poskytuje Crossref.org
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- $a Niazi, Yasmeen $u Department of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany; Hopp Children's Cancer Center (KiTZ), 69120, Heidelberg, Germany; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), 69120, Heidelberg, Germany. Electronic address: y.niazi@dkfz-heidelberg.de
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- $a Nonspecific structural chromosomal aberrations (CAs) can be found at around 1% of circulating lymphocytes from healthy individuals but the frequency may be higher after exposure to carcinogenic chemicals or radiation. The frequency of CAs has been measured in occupational monitoring and an increased frequency of CAs has also been associated with cancer risk. Alterations in DNA damage repair and telomere maintenance are thought to contribute to the formation of CAs, which include chromosome type of aberrations and chromatid type of aberrations. In the present study, we used the result of our published genome-wide association studies to extract data on 153 DNA repair genes from 866 nonsmoking persons who had no known occupational exposure to genotoxic substances. Considering an arbitrary cut-off level of P< 5 × 10-3, single nucleotide polymorphisms (SNPs) tagging 22 DNA repair genes were significantly associated with CAs and they remained significant at P < 0.05 when adjustment for multiple comparisons was done by the Binomial Sequential Goodness of Fit test. Nucleotide excision repair pathway genes showed most associations with 6 genes. Among the associated genes were several in which mutations manifest CA phenotype, including Fanconi anemia, WRN, BLM and genes that are important in maintaining genome stability, as well as PARP2 and mismatch repair genes. RPA2 and RPA3 may participate in telomere maintenance through the synthesis of the C strand of telomeres. Errors in NHEJ1 function may lead to translocations. The present results show associations with some genes with known CA phenotype and suggest other pathways with mechanistic rationale for the formation of CAs in healthy nonsmoking population.
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