Several investigations for mtDNA-CN
While have been performed, the present study represents the most comprehensive genetic assessment to date Ryan Joseph. Notably, Hagg et al. (2020) recently conducted a GWAS for mtDNA-CN in 295,150 UKBiobank participants and identified 50 common loci. However, the method developed by Hagg et al. (2020) calibrated SNP probe intensities based on association with whole-exome sequencing read depths, which may limit the convenience of the method.
In contrast, AutoMitoC only necessitates array probe intensities and does not require any secondary genetic measurements (WES or otherwise) for calibration. In addition, AutoMitoC exhibits superior concordance with WES-based estimates (Hagg r=0.33; AutoMitoC r=0.45)
nasopharyngeal cavity, gently rotate it several times. (Collect as much secretion as possible) 02-NATSARS(COV2)ST
, which was validated in an independent dataset with gold standard qPCR measurements. Further, Hagg et al. (2020) restricted genetic analyses to unrelated European individuals, whereas we incorporated ∼100,000 additional individuals and demonstrated consistency in genetic effects between Europeans and non-Europeans (r ≥ 0.88). The greater sample size in combination with more accurate mtDNA-CN estimates may explain the 44% increase in identified common loci (72 vs 50).
In the present study we included exploration of the role of rare variants through ExWAS and, notably, Mendelian Randomization analyses to assess disease contexts whereby mtDNA-CN may represent a causal mediator and a potential therapeutic target.