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Status: Bibliographieeintrag

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Verfasst von:Niazi, Yasmeen [VerfasserIn]   i
 Thomsen, Hauke [VerfasserIn]   i
 Hemminki, Kari [VerfasserIn]   i
 Försti, Asta [VerfasserIn]   i
Titel:Genetic variation associated with chromosomal aberration frequency
Titelzusatz:a genome-wide association study
Verf.angabe:Yasmeen Niazi, Hauke Thomsen, Bozena Smolkova, Ludmila Vodickova, Sona Vodenkova, Michal Kroupa, Veronika Vymetalkova, Alena Kazimirova, Magdalena Barancokova, Katarina Volkovova, Marta Staruchova, Per Hoffmann, Markus M. Nöthen, Maria Dušinská, Ludovit Musak, Pavel Vodicka, Kari Hemminki and Asta Försti
Jahr:2019
Jahr des Originals:2018
Umfang:12 S.
Fussnoten:First published: 03 October 2018 ; Gesehen am 02.08.2019
Titel Quelle:Enthalten in: Environmental and molecular mutagenesis
Ort Quelle:New York, NY [u.a.] : Wiley, 1979
Jahr Quelle:2019
Band/Heft Quelle:60(2019), 1, Seite 17-28
ISSN Quelle:1098-2280
Abstract: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.
DOI:doi:10.1002/em.22236
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext ; Verlag: https://doi.org/10.1002/em.22236
 Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/em.22236
 DOI: https://doi.org/10.1002/em.22236
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:chromatid-type aberrations
 chromosome-type aberrations
 GWAS
 single-nucleotide polymorphism
K10plus-PPN:1670526372
Verknüpfungen:→ Zeitschrift

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