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Genome-wide association study of serum coenzyme Q10levels identifies susceptibility loci linked to neuronal diseases
- Source :
- Human Molecular Genetics
- Publication Year :
- 2016
- Publisher :
- Oxford University Press (OUP), 2016.
-
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.
- Subjects :
- Adult
Male
0301 basic medicine
Mitochondrial Diseases
Genotype
Ubiquinone
Cell Adhesion Molecules, Neuronal
Nerve Tissue Proteins
Single-nucleotide polymorphism
Genome-wide association study
Biology
Polymorphism, Single Nucleotide
Genome
03 medical and health sciences
Chromosome 18
Gene expression
Genetics
Humans
SNP
Genetic Predisposition to Disease
Neural Cell Adhesion Molecules
Molecular Biology
Gene
Genetics (clinical)
Aged
Neurons
Receptors, Scavenger
Muscle Weakness
Calcium-Binding Proteins
Genetic Variation
Chromosome
General Medicine
Middle Aged
Molecular biology
Collectins
3. Good health
Cross-Sectional Studies
030104 developmental biology
Genetic Loci
Nerve Degeneration
Ataxia
Female
Genome-Wide Association Study
Subjects
Details
- ISSN :
- 14602083 and 09646906
- Database :
- OpenAIRE
- Journal :
- Human Molecular Genetics
- Accession number :
- edsair.doi.dedup.....ea0491ad20e199d55883d8504e6c5759