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

Sonia López, Alfonso Buil, Juan Carlos Souto, Jordi Casademont, Angel Martinez-Perez, Laura Almasy, José Manuel Soria

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)34-40
Number of pages7
JournalMitochondrion
Volume18
Issue number1
DOIs
StatePublished - Sep 1 2014
Externally publishedYes

Keywords

  • Family-based study
  • Genome-wide association study (GWAS)
  • Genotype-phenotype associations
  • Mitochondrial genome (mtDNA)
  • Single nucleotide polymorphisms (SNPs)

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Cell Biology

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