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

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.