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

source extracted confidence: high 2026-04-09
#adult #aged #ataxia #calcium-binding-proteins #cell-adhesion-molecules-neuronal

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

Degenhardt et al., 2016 | Hum Mol Genet | Meta Analysis

Citation

Degenhardt Frauke, Niklowitz Petra, ... Onur Simone. Genome-wide association study of serum coenzyme Q10 levels identifies susceptibility loci linked to neuronal diseases. Hum Mol Genet. 2016-Jul-01;25(13):2881-2891

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.

Key Findings

In summary, this study demonstrates that serum CoQ10 levels are associated with common genetic loci that are linked to neuronal diseases.

Outcomes Measured

  • inflammatory markers

Population

Field Value
Population See abstract
Sample Size 1300
Age Range See abstract
Condition See abstract

MeSH Terms

  • Adult
  • Aged
  • Ataxia
  • Calcium-Binding Proteins
  • Cell Adhesion Molecules, Neuronal
  • Collectins
  • Cross-Sectional Studies
  • Female
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Diseases
  • Muscle Weakness
  • Nerve Degeneration
  • Nerve Tissue Proteins
  • Neural Cell Adhesion Molecules
  • Neurons
  • Polymorphism, Single Nucleotide
  • Receptors, Scavenger
  • Ubiquinone

Evidence Classification

  • Level: Meta Analysis
  • Publication Types: Journal Article, Meta-Analysis
  • Vertical: coq10

Provenance

  • PMID: 27149984
  • DOI: (not available)
  • PMCID: Not in PMC
  • Verified: 2026-04-09 via PubMed E-utilities API

Source extracted via PubMed E-utilities API on 2026-04-09