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Genetic variation a...
Genetic variation associated with chromosomal aberration frequency : A genome-wide association study
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- Niazi, Yasmeen (author)
- Heidelberg University,German Cancer Research Centre
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- Thomsen, Hauke (author)
- German Cancer Research Centre
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- Smolkova, Bozena (author)
- Slovak Academy of Sciences
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- Vodickova, Ludmila (author)
- Institute of Experimental Medicine, Czech Academy of Science,Charles University in Prague
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- Vodenkova, Sona (author)
- Institute of Experimental Medicine, Czech Academy of Science,Charles University in Prague
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- Kroupa, Michal (author)
- Charles University in Prague,Institute of Experimental Medicine, Czech Academy of Science
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- Vymetalkova, Veronika (author)
- Institute of Experimental Medicine, Czech Academy of Science,Charles University in Prague
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- Kazimirova, Alena (author)
- Slovak Medical University
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- Barancokova, Magdalena (author)
- Slovak Medical University
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- Volkovova, Katarina (author)
- Slovak Medical University
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- Staruchova, Marta (author)
- Slovak Medical University
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- Hoffmann, Per (author)
- University of Basel,University Hospital Bonn
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- Nöthen, Markus M. (author)
- University Hospital Bonn,University of Bonn
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- Dušinská, Maria (author)
- Norwegian Institute for Air Research
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- Musak, Ludovit (author)
- University Hospital Martin,Comenius University
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- Vodicka, Pavel (author)
- Charles University in Prague,Institute of Experimental Medicine, Czech Academy of Science
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- Hemminki, Kari (author)
- Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre
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- Försti, Asta (author)
- Center for Primary Health Care Research,German Cancer Research Centre
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(creator_code:org_t)
- 2018-10-03
- 2018
- English.
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In: Environmental and Molecular Mutagenesis. - : Wiley. - 0893-6692 .- 1098-2280.
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Abstract
Subject headings
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- Chromosomal aberrations (CAs) in human peripheral blood lymphocytes (PBL) measured with the conventional cytogenetic assay have been used for human biomonitoring of genotoxic exposure for decades. CA frequency in peripheral blood is a marker of cancer susceptibility. Previous studies have shown associations between genetic variants in metabolic pathway, DNA repair and major mitotic checkpoint genes and CAs. We conducted a genome-wide association study on 576 individuals from the Czech Republic and Slovakia followed by a replication in two different sample sets of 482 (replication 1) and 1288 (replication 2) samples. To have a broad look at the genetic susceptibility associated with CA frequency, the sample sets composed of individuals either differentially exposed to smoking, occupational/environmental hazards, or they were untreated cancer patients. Phenotypes were divided into chromosome- and chromatid-type aberrations (CSAs and CTAs, respectively) and total chromosomal aberrations (CAtot). The arbitrary cutoff point between individuals with high and low CA frequency was 2% for CAtot and 1% for CSA and CTA. The data were analyzed using age, sex, occupation/cancer and smoking history as covariates. Altogether 11 loci reached the P-value of 10−5 in the GWAS. Replication 1 supported the association of rs1383997 (8q13.3) and rs2824215 (21q21.1) in CAtot and rs983889 (5p15.1) in CTA analysis. These loci were found to be associated with genes involved in mitosis, response to environmental and chemical factors and genes involved in syndromes linked to chromosomal abnormalities. Identification of new genetic variants for the frequency of CAs offers prediction tools for cancer risk in future. 2018 Wiley Periodicals, Inc.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- chromatid-type aberrations
- chromosome-type aberrations
- GWAS
- single-nucleotide polymorphism
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Niazi, Yasmeen
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Thomsen, Hauke
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Smolkova, Bozena
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Vodickova, Ludmi ...
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Vodenkova, Sona
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Kroupa, Michal
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Vymetalkova, Ver ...
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Kazimirova, Alen ...
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Barancokova, Mag ...
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Volkovova, Katar ...
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Staruchova, Mart ...
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Hoffmann, Per
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Nöthen, Markus M ...
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Dušinská, Maria
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Musak, Ludovit
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Vodicka, Pavel
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Hemminki, Kari
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Försti, Asta
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Environmental an ...
- By the university
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Lund University