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2012
- doi: 10.1371/journal.pone.0043566
- issn: 1932-6203
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info:eu-repo/semantics/altIdentifier/pmid/22952707
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Sujets proches
Phenotypes Differences, Individual Superoxide Hyperoxides Speciation (Biology) Group dynamics Association Groups, Social Base sequence (Nucleic acids) Analysis, Nucleotide sequence DNA sequence Sequence, Nucleotide Nucleic acid sequence analysis RNA sequence Analysis, Nucleic acid sequence Nucleotide sequence analysis Primary metabolism Anabolism Metabolism, Primary Catabolism Genes--Expression Proof 21 trisomy Down's syndrome Trisomy 21 Mongolism Mongolism (Disease) Oxygen radicals Reactive oxygen Singlet oxygen Superperoxide anion LCLs (Lymphoblastoid cell lines) LBCL (Lymphoblastoid cell lines) LBCLs (Lymphoblastoid cell lines) LCL (Lymphoblastoid cell lines) Methods of analysis Analysis and chemistry Analytical methods Chemical analysis Analysis methods Analysis and examinationCiter ce document
H. Attar et al., « Extensive natural variation for cellular hydrogen peroxide release is genetically controlled. », Serveur académique Lausannois, ID : 10.1371/journal.pone.0043566
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Natural variation in DNA sequence contributes to individual differences in quantitative traits. While multiple studies have shown genetic control over gene expression variation, few additional cellular traits have been investigated. Here, we investigated the natural variation of NADPH oxidase-dependent hydrogen peroxide (H(2)O(2) release), which is the joint effect of reactive oxygen species (ROS) production, superoxide metabolism and degradation, and is related to a number of human disorders. We assessed the normal variation of H(2)O(2) release in lymphoblastoid cell lines (LCL) in a family-based 3-generation cohort (CEPH-HapMap), and in 3 population-based cohorts (KORA, GenCord, HapMap). Substantial individual variation was observed, 45% of which were associated with heritability in the CEPH-HapMap cohort. We identified 2 genome-wide significant loci of Hsa12 and Hsa15 in genome-wide linkage analysis. Next, we performed genome-wide association study (GWAS) for the combined KORA-GenCord cohorts (n = 279) using enhanced marker resolution by imputation (>1.4 million SNPs). We found 5 significant associations (p