Distinct pathways associated with chromosomal aberration frequency in a cohort exposed to genotoxic compounds compared to general population
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F19%3A10396248" target="_blank" >RIV/00216208:11140/19:10396248 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/19:10396248 RIV/00216208:11120/19:43918871
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Ekxg3k6mfs" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Ekxg3k6mfs</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1093/mutage/gez024" target="_blank" >10.1093/mutage/gez024</a>
Alternative languages
Result language
angličtina
Original language name
Distinct pathways associated with chromosomal aberration frequency in a cohort exposed to genotoxic compounds compared to general population
Original language description
Non-specific structural chromosomal aberrations (CAs) observed in peripheral blood lymphocytes of healthy individuals can be either chromosome-type aberrations (CSAs) or chromatid-type aberrations (CTAs) depending on the stage of cell division they are induced in and mechanism of formation. It is important to study the genetic basis of chromosomal instability as it is a marker of genotoxic exposure and a predictor of cancer risk. For that purpose, we conducted 2 genome-wide association studies (GWASs) on healthy individuals in the presence and absence of apparent genotoxic exposure from the Czech Republic and Slovakia. The pre-GWAS cytogenetic analysis reported the frequencies of CSA, CTA, and CAtot (total chromosomal aberration). We performed both linear and binary logistic regression analysis with an arbitrary cutoff point of 2% for CAtot and 1% for CSA and CTA. Using the statistical threshold of 1.0x10-5, we identified 5 loci with in silico predicted functionality in the reference group and 4 loci in the exposed group, with no overlap between the associated regions. A meta-analysis on the 2 GWASs identified further 4 loci, with moderate associations in each of the studies. From the reference group mainly loci within genes related to DNA damage response/repair were identified. Other loci identified from both the reference and exposed groups were found to be involved in the segregation of chromosomes and chromatin modification. Some of the discovered regions in each group were implicated in tumorigenesis and autism.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10601 - Cell biology
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Mutagenesis
ISSN
0267-8357
e-ISSN
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Volume of the periodical
34
Issue of the periodical within the volume
4
Country of publishing house
GB - UNITED KINGDOM
Number of pages
8
Pages from-to
323-330
UT code for WoS article
000509473600004
EID of the result in the Scopus database
2-s2.0-85077109136