Authors
Liron Ganel, Lei Chen, Ryan Christ, Jagadish Vangipurapu, Erica Young, Indraniel Das, Krishna Kanchi, David Larson, Allison Regier, Haley Abel, Chul Joo Kang, Alexandra Scott, Aki Havulinna, Charleston WK Chiang, Nelson Freimer, Aarno Palotie, Samuli Ripatti, Johanna Kuusisto, Michael Boehnke, Markku Laakso, Adam Locke, Nathan O Stitziel, Ira M Hall
Publication date
2021/12
Journal
Human genomics
Volume
15
Issue
1
Pages
1-17
Publisher
BioMed Central
Description
Background
Mitochondrial genome copy number (MT-CN) varies among humans and across tissues and is highly heritable, but its causes and consequences are not well understood. When measured by bulk DNA sequencing in blood, MT-CN may reflect a combination of the number of mitochondria per cell and cell-type composition. Here, we studied MT-CN variation in blood-derived DNA from 19184 Finnish individuals using a combination of genome (N = 4163) and exome sequencing (N = 19034) data as well as imputed genotypes (N = 17718).
Results
We identified two loci significantly associated with MT-CN variation: a common variant at the MYB-HBS1L locus (P = 1.6 × 10−8), which has previously been associated with numerous hematological parameters; and a burden of rare variants in the TMBIM1 gene (P = 3.0 × 10−8), which has been reported to protect against non-alcoholic fatty liver disease. We also …
Total citations
Scholar articles
L Ganel, L Chen, R Christ, J Vangipurapu, E Young… - Human genomics, 2021