rs10124625 - RNA5SP291 - SMC2-DT

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-wide association study of mitochondrial copy number. - Human molecular genetics (2022) · Gentiluomo M, Giaccherini M, Gào X, Guo F, Stocker H, Schöttker B, Brenner H, Canzian F, Campa D · PubMed 34964454

  Mitochondrial DNA copy number (mtDNAcn) variation has been associated with increased risk of several human diseases in epidemiological studies. The quantification of mtDNAcn performed with real-time PCR is currently considered the de facto standard among several techniques. However, the heterogeneity of the laboratory methods (DNA extraction, storage, processing) used could give rise to results that are difficult to compare and reproduce across different studies. Several lines of evidence suggest that mtDNAcn is influenced by nuclear and mitochondrial genetic variability, however this relation is largely unexplored. The aim of this work was to elucidate the genetic basis of mtDNAcn variation. We performed a genome-wide association study (GWAS) of mtDNAcn in 6836 subjects from the ESTHER pr

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