TY  - JOUR
AU  - Gentiluomo, Manuel
AU  - Giaccherini, Matteo
AU  - Gào, Xīn
AU  - Guo, Feng
AU  - Stocker, Hannah
AU  - Schöttker, Ben
AU  - Brenner, Hermann
AU  - Canzian, Federico
AU  - Campa, Daniele
TI  - Genome-wide association study of mitochondrial copy number.
JO  - Human molecular genetics
VL  - 31
IS  - 8
SN  - 0964-6906
CY  - Oxford
PB  - Oxford Univ. Press
M1  - DKFZ-2021-03275
SP  - 1346-1355
PY  - 2022
N1  - #EA:C055#LA:C055# / 2022 Apr 22;31(8):1346-1355
AB  - 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 prospective cohort, and included, as replication set, the summary statistics of a GWAS that used 295 150 participants from the UK Biobank. We observed two novel associations with mtDNAcn variation on chromosome 19 (rs117176661), and 12 (rs7136238) that reached statistical significance at the genome-wide level. A polygenic score that we called mitoscore including all known single nucleotide polymorphisms explained 1.11
LB  - PUB:(DE-HGF)16
C6  - pmid:34964454
DO  - DOI:10.1093/hmg/ddab341
UR  - https://inrepo02.dkfz.de/record/178331
ER  -