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Relations of mitochondrial genetic variants to measures of vascular function.


ABSTRACT: Mitochondrial genetic variation with resultant alterations in oxidative phosphorylation may influence vascular function and contribute to cardiovascular disease susceptibility. We assessed relations of peptide-encoding variants in the mitochondrial genome with measures of vascular function in Framingham Heart Study participants. Of 258 variants assessed, 40 were predicted to have functional consequences by bioinformatics programs. A maternal pattern of heritability was estimated to contribute to the variability of aortic stiffness. A putative association with a microvascular function measure was identified that requires replication. The methods we have developed can be applied to assess the relations of mitochondrial genetic variation to other phenotypes.

SUBMITTER: Fetterman JL 

PROVIDER: S-EPMC5858959 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

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Relations of mitochondrial genetic variants to measures of vascular function.

Fetterman Jessica L JL   Liu Chunyu C   Mitchell Gary F GF   Vasan Ramachandran S RS   Benjamin Emelia J EJ   Vita Joseph A JA   Hamburg Naomi M NM   Levy Daniel D  

Mitochondrion 20171007


Mitochondrial genetic variation with resultant alterations in oxidative phosphorylation may influence vascular function and contribute to cardiovascular disease susceptibility. We assessed relations of peptide-encoding variants in the mitochondrial genome with measures of vascular function in Framingham Heart Study participants. Of 258 variants assessed, 40 were predicted to have functional consequences by bioinformatics programs. A maternal pattern of heritability was estimated to contribute to  ...[more]

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