title: A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
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.
authors.affiliation: Unit of Genomic of Complex Diseases, Research Institute of Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Electronic address: slopezm@santpau.cat.
authors.forename: Sonia
authors.initials: S
authors.lastname: López
authors.affiliation: Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
authors.forename: Alfonso
authors.initials: A
authors.lastname: Buil
authors.affiliation: Haemostasis and Thrombosis Unit, Department of Haematology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Souto
authors.affiliation: Internal Medicine Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Casademont
authors.affiliation: Unit of Genomic of Complex Diseases, Research Institute of Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: Angel
authors.initials: A
authors.lastname: Martinez-Perez
authors.affiliation: Department of Genetics, Texas Biomedical Research Institute, San Antonio, TX, USA.
authors.forename: Laura
authors.initials: L
authors.lastname: Almasy
authors.affiliation: Unit of Genomic of Complex Diseases, Research Institute of Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Soria
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000096:biosynthesis*; D005260:Female; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics; D011110:Polymorphism, Genetic; D012269:Ribosomal Proteins / Q000235:genetics; D012737:Sex Factors; D019851:Thrombophilia / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial; C502025:MRPL37 protein, human; D024101:Mitochondrial Proteins; D012269:Ribosomal Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein
keywords: Family-based study; Genome-wide association study (GWAS); Genotype–phenotype associations; Mitochondrial genome (mtDNA); Single nucleotide polymorphisms (SNPs)