TY - JOUR
T1 - A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels
AU - López, Sonia
AU - Buil, Alfonso
AU - Souto, Juan Carlos
AU - Casademont, Jordi
AU - Martinez-Perez, Angel
AU - Almasy, Laura
AU - Soria, José Manuel
N1 - Funding Information:
We would like to acknowledge the advice and helpful discussion of Professor W.H. Stone. This study was supported by the ‘ Instituto de Salud Carlos III-Fondo de Investigación Sanitaria ’ (ISCIII-FIS) ( PI 11/0184 ), ‘ Red de Investigación Cardiovascular ’ (RIC) ( RD12/0042/0032 ) and ‘ Agència de Gestió d'ajuts Universitaris i de Recerca ’ (AGAUR) ( SGR-01068 and SGR-1240 ). Sonia López was supported by ‘ Contratos Posdoctorales de Perfeccionamiento Sara Borrell ’ from ISCIII-FIS ( CD08/00059 ). Also, we thank R. Pérez for her technical support as well as A. Cárdenas, J. Nicolau and O. Solà for their administrative help with regard to the inclusion of all of the subjects. Finally, we are indebted to all of the families who participated in the GAIT Project.
Publisher Copyright:
© 2014 © Elsevier B.V. and Mitochondria Research Society.
PY - 2014/9/1
Y1 - 2014/9/1
N2 - 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.
AB - 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.
KW - Family-based study
KW - Genome-wide association study (GWAS)
KW - Genotype-phenotype associations
KW - Mitochondrial genome (mtDNA)
KW - Single nucleotide polymorphisms (SNPs)
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U2 - 10.1016/j.mito.2014.09.004
DO - 10.1016/j.mito.2014.09.004
M3 - Article
C2 - 25240745
AN - SCOPUS:84937202186
SN - 1567-7249
VL - 18
SP - 34
EP - 40
JO - Mitochondrion
JF - Mitochondrion
IS - 1
ER -