rs11591201 - ADH5P2 - HMGB1P18

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-wide association study of serum coenzyme Q10 levels identifies susceptibility loci linked to neuronal diseases. - Human molecular genetics (2017) · Degenhardt F, Niklowitz P, Szymczak S, Jacobs G, Lieb W, Menke T, Laudes M, Esko T, Weidinger S, Franke A, Döring F, Onur S · PubMed 27149984

  Coenzyme Q (CoQ ) is a lipophilic redox molecule that is present in membranes of almost all cells in human tissues. CoQ is, amongst other functions, essential for the respiratory transport chain and is a modulator of inflammatory processes and gene expression. Rare monogenetic CoQ 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 CoQ 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 , β = 0.063, CI [0.041, 0.085]) wit

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