期刊
MITOCHONDRION
卷 18, 期 -, 页码 34-40出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2014.09.004
关键词
Mitochondrial genome (mtDNA); Genotype-phenotype associations; Single nucleotide polymorphisms (SNPs); Genome-wide association study (GWAS); Family-based study
资金
- 'Instituto de Salud Carlos III-Fondo de Investigacion Sanitaria' (ISCIII-FIS) [PI 11/0184]
- 'Red de Investigacion Cardiovascular' (RIC) [RD12/0042/0032]
- 'Agencia de Gestio d'ajuts Universitaris i de Recerca' (AGAUR) [SGR-01068, SGR-1240]
- 'Contratos Posdoctorales de Perfeccionamiento Sara Borrell' [CD08/00059]
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. (C) 2014 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
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