Format

Send to

Choose Destination
Hum Mol Genet. 2016 Jul 1;25(13):2881-2891. Epub 2016 May 5.

Genome-wide association study of serum coenzyme Q10 levels identifies susceptibility loci linked to neuronal diseases.

Author information

1
Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.
2
Children's Hospital Datteln, Witten/Herdecke University, Dr.-Friedrich-Steiner Str. 5, 45711 Datteln, Germany.
3
Institute of Epidemiology and Biobank PopGen, Christian-Albrechts-University of Kiel, Niemannsweg 11, Haus 1, 24105 Kiel, Germany.
4
Department of Internal Medicine, University Hospital Schleswig-Holstein, Campus Kiel, Arnold-Heller-Straße 3, Haus 6, 24105 Kiel, Germany.
5
Estonian Research Center, University of Tartu, Riia 23b, 51010, Tartu, Estland.
6
Department of Dermatology, University Hospital Schleswig-Holstein, Campus Kiel, Schittenhelmstraße 7, 24105 Kiel, Germany.
7
Division of Molecular Prevention, Institute of Human Nutrition and Food Science, Christian-Albrechts-University of Kiel, Heinrich-Hecht-Platz 10, 24118 Kiel, Germany sek@molprev.uni-kiel.de.
8
Division of Molecular Prevention, Institute of Human Nutrition and Food Science, Christian-Albrechts-University of Kiel, Heinrich-Hecht-Platz 10, 24118 Kiel, Germany.

Abstract

Coenzyme Q10 (CoQ10) is a lipophilic redox molecule that is present in membranes of almost all cells in human tissues. CoQ10 is, amongst other functions, essential for the respiratory transport chain and is a modulator of inflammatory processes and gene expression. Rare monogenetic CoQ10 deficiencies show noticeable symptoms in tissues (e.g. kidney) and cell types (e.g. neurons) with a high energy demand. To identify common genetic variants influencing serum CoQ10 levels, we performed a fixed effects meta-analysis in two independent cross-sectional Northern German cohorts comprising 1300 individuals in total. We identified two genome-wide significant susceptibility loci. The best associated single nucleotide polymorphism (SNP) was rs9952641 (P value = 1.31 × 10 -8, β = 0.063, CI0.95 [0.041, 0.085]) within the COLEC12 gene on chromosome 18. The SNP rs933585 within the NRXN-1 gene on chromosome 2 also showed genome wide significance (P value = 3.64 × 10 -8, β = -0.034, CI0.95 [-0.046, -0.022]). Both genes have been previously linked to neuronal diseases like Alzheimer's disease, autism and schizophrenia. Among our 'top-10' associated variants, four additional loci with known neuronal connections showed suggestive associations with CoQ10 levels. In summary, this study demonstrates that serum CoQ10 levels are associated with common genetic loci that are linked to neuronal diseases.

PMID:
27149984
DOI:
10.1093/hmg/ddw134
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Silverchair Information Systems
Loading ...
Support Center