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Sökning: onr:"swepub:oai:lup.lub.lu.se:8625e4b3-5b86-42c9-a8ed-1d2f56000208" > Loci associated wit...

Loci associated with genomic damage levels in chronic kidney disease patients and controls

Corredor, Zuray, (författare)
Autonomous University of Barcelona
da Silva Filho, Miguel Inácio, (författare)
German Cancer Research Centre
Rodríguez-Ribera, Lara, (författare)
Autonomous University of Barcelona
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Catalano, Calogerina, (författare)
German Cancer Research Centre
Hemminki, Kari, (författare)
Forskargrupper vid Lunds universitet, Lund University Research Groups, Lunds universitet, Lund University, Allmänmedicin, kardiovaskulär epidemiologi och levnadsvanor, Family Medicine, Cardiovascular Epidemiology and Lifestyle, Allmänmedicin och klinisk epidemiologi, Family Medicine and Clinical Epidemiology, German Cancer Research Centre, Center for Primary Health Care Research
Coll, Elisabeth, (författare)
Fundació Puigvert
Silva, Irene, (författare)
Fundació Puigvert
Diaz, Juan Manuel, (författare)
Fundació Puigvert
Ballarin, José Aurelio, (författare)
Fundació Puigvert
Henández, Alba, (författare)
Carlos III Health Institute, Autonomous University of Barcelona
Försti, Asta, (författare)
Forskargrupper vid Lunds universitet, Lund University Research Groups, Lunds universitet, Lund University, Allmänmedicin, kardiovaskulär epidemiologi och levnadsvanor, Family Medicine, Cardiovascular Epidemiology and Lifestyle, Allmänmedicin och klinisk epidemiologi, Family Medicine and Clinical Epidemiology, German Cancer Research Centre, Center for Primary Health Care Research
Marcos, Ricard, (författare)
Autonomous University of Barcelona, Carlos III Health Institute
Pastor, Susana, (författare)
Autonomous University of Barcelona, Carlos III Health Institute
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2020
Engelska.
Ingår i: Mutation Research - Genetic Toxicology and Environmental Mutagenesis. - Elsevier. - 1383-5718. ; 852
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Chronic kidney disease (CKD) is a multifactorial disorder with an important genetic component, and several studies have demonstrated potential associations with allelic variants. In addition, CKD patients are also characterized by high levels of genomic damage. Nevertheless, no studies have established relationships between DNA damage, or genomic instability present in CKD patients, and gene polymorphisms. To fill in this gap, the potential role of polymorphisms in genes involved in base excision repair (OGG1, rs1052133; MUTYH, rs3219489; XRCC1, rs25487), nucleotide excision repair (ERCC2/XPD, rs1799793, rs171140, rs13181; ERCC4, rs3136166); phase II metabolism (GSTP1, rs749174; GSTO1, rs2164624; GSTO2, rs156697), and antioxidant enzymes (SOD1, rs17880135, rs1041740, rs202446; SOD2, rs4880; CAT, rs1001179; GPX1, rs17080528; GPX3, rs870406: GPX4, rs713041) were inquired. In addition, some genes involved in CKD (AGT, rs5050; GLO1, rs386572987; SHROOM3, rs17319721) were also evaluated. The genomic damage, the genomic instability, and oxidative damage were evaluated by using the micronucleus and the comet assay in 589 donors (415 CKD patients and 174 controls). Our results showed significant associations between genomic damage and genes directly involved in DNA repair pathways (XRCC1, and ERCC2), and with genes encoding for antioxidant enzymes (SOD1 and GPX1). GSTO2, as a gene involved in phase II metabolism, and MUTYH showed also an association with genomic instability. Interestingly, the three genes associated with CKD (AGT, GLO1, and SHROOM3) showed associations with both the high levels of oxidatively damaged DNA and genomic instability. These results support our view that genomic instability can be considered a biomarker of the CKD status.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Nyckelord

CKD patients
Genomic damage
Single nucleotide polymorphisms

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