Genetic variation associated with chromosomal aberration frequency: A genome-wide association study
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378041%3A_____%2F19%3A00495327" target="_blank" >RIV/68378041:_____/19:00495327 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/19:10385499 RIV/00216208:11120/19:43917262 RIV/00216208:11140/19:10385499
Result on the web
<a href="https://onlinelibrary.wiley.com/doi/full/10.1002/em.22236" target="_blank" >https://onlinelibrary.wiley.com/doi/full/10.1002/em.22236</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/em.22236" target="_blank" >10.1002/em.22236</a>
Alternative languages
Result language
angličtina
Original language name
Genetic variation associated with chromosomal aberration frequency: A genome-wide association study
Original language description
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.
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
30101 - Human genetics
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
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
Environmental and Molecular Mutagenesis
ISSN
0893-6692
e-ISSN
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Volume of the periodical
60
Issue of the periodical within the volume
1
Country of publishing house
US - UNITED STATES
Number of pages
12
Pages from-to
17-28
UT code for WoS article
000454955900002
EID of the result in the Scopus database
2-s2.0-85055711280