A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels

Mitochondrion. 2014 Sep;18:34-40. doi: 10.1016/j.mito.2014.09.004. Epub 2014 Sep 18.


Identifying genes that regulate mitochondrial DNA (mtDNA) levels is of interest due to an increasing number of diseases in humans that are associated with altered mtDNA levels. We searched for nuclear polymorphisms that influence mtDNA levels using a family-based genome-wide association (GWAS) method. Also, our aim was to determine if sex influences the genetic control of mtDNA levels. Two intron-polymorphisms, in the genes PARK2 and MRPL37, showed a tendency toward an association with mtDNA levels only in females and only in males, respectively. Both genes have a role in mitochondrial biogenesis and are potential candidates for the sex-specific control of mtDNA levels.

Keywords: Family-based study; Genome-wide association study (GWAS); Genotype–phenotype associations; Mitochondrial genome (mtDNA); Single nucleotide polymorphisms (SNPs).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Child, Preschool
  • DNA, Mitochondrial / biosynthesis*
  • Female
  • Gene Expression Regulation*
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Mitochondrial Proteins / genetics
  • Polymorphism, Genetic
  • Ribosomal Proteins / genetics
  • Sex Factors
  • Thrombophilia / genetics*
  • Ubiquitin-Protein Ligases / genetics
  • Young Adult


  • DNA, Mitochondrial
  • MRPL37 protein, human
  • Mitochondrial Proteins
  • Ribosomal Proteins
  • Ubiquitin-Protein Ligases
  • parkin protein