Format

Send to

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

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

Author information

1
Unit of Genomic of Complex Diseases, Research Institute of Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Electronic address: slopezm@santpau.cat.
2
Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
3
Haemostasis and Thrombosis Unit, Department of Haematology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
4
Internal Medicine Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
5
Unit of Genomic of Complex Diseases, Research Institute of Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
6
Department of Genetics, Texas Biomedical Research Institute, San Antonio, TX, USA.

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.

KEYWORDS:

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

PMID:
25240745
DOI:
10.1016/j.mito.2014.09.004
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center