ParkinsonCanadaV1, Main, Exploration, bibRecord, 002938

Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

Identifieur interne : 002938 ( Main/Exploration ); précédent : 002937; suivant : 002939

Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

Auteurs : Richa Saxena [États-Unis] ; Paul I. W. De Bakker [États-Unis] ; Karyn Singer [États-Unis] ; Vamsi Mootha [États-Unis] ; Noël Burtt [États-Unis] ; Joel N. Hirschhorn [États-Unis] ; Daniel Gaudet [Canada] ; Bo Isomaa [Finlande] ; Mark J. Daly [États-Unis] ; Leif Groop [Suède] ; Kristin G. Ardlie [États-Unis] ; David Altshuler [États-Unis]

Source :

American journal of human genetics [ 0002-9297 ] ; 2006.

RBID : Pascal:06-0329910

Descripteurs français

Pascal (Inist)
- Cytopathie mitochondriale, Métabolisme pathologie, Association, Dépistage, DNA mitochondrial, Variabilité génétique, Génétique, Homme.
Wicri :
- topic : Association, Génétique, Homme.

English descriptors

KwdEn :
- Association, Genetic variability, Genetics, Human, Medical screening, Metabolic diseases, Mitochondrial DNA, Mitochondrial disorder.

Abstract

Many lines of evidence implicate mitochondria in phenotypic variation: (a) rare mutations in mitochondrial proteins cause metabolic, neurological, and muscular disorders; (b) alterations in oxidative phosphorylation are characteristic of type 2 diabetes, Parkinson disease, Huntington disease, and other diseases; and (c) common missense variants in the mitochondrial genome (mtDNA) have been implicated as having been subject to natural selection for adaptation to cold climates and contributing to "energy deficiency" diseases today. To test the hypothesis that common mtDNA variation influences human physiology and disease, we identified all 144 variants with frequency >1% in Europeans from >900 publicly available European mtDNA sequences and selected 64 tagging single-nucleotide polymorphisms that efficiently capture all common variation (except the hypervariable D-loop). Next, we evaluated the complete set of common mtDNA variants for association with type 2 diabetes in a sample of 3,304 diabetics and 3,304 matched nondiabetic individuals. Association of mtDNA variants with other metabolic traits (body mass index, measures of insulin secretion and action, blood pressure, and cholesterol) was also tested in subsets of this sample. We did not find a significant association of common mtDNA variants with these metabolic phenotypes. Moreover, we failed to identify any physiological effect of alleles that were previously proposed to have been adaptive for energy metabolism in human evolution. More generally, this comprehensive association-testing framework can readily be applied to other diseases for which mitochondrial dysfunction has been implicated.

Affiliations:

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Le document en format XML

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<author><name sortKey="Altshuler, David" sort="Altshuler, David" uniqKey="Altshuler D" first="David" last="Altshuler">David Altshuler</name>
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<wicri:noRegion>Department of Molecular Biology, Massachusetts General Hospital</wicri:noRegion>
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<wicri:noRegion>Department of Genetics, Harvard Medical School</wicri:noRegion>
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<wicri:noRegion>Department of Medicine, Harvard Medical School</wicri:noRegion>
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<series><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
<imprint><date when="2006">2006</date>
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<seriesStmt><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Association</term>
<term>Genetic variability</term>
<term>Genetics</term>
<term>Human</term>
<term>Medical screening</term>
<term>Metabolic diseases</term>
<term>Mitochondrial DNA</term>
<term>Mitochondrial disorder</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Cytopathie mitochondriale</term>
<term>Métabolisme pathologie</term>
<term>Association</term>
<term>Dépistage</term>
<term>DNA mitochondrial</term>
<term>Variabilité génétique</term>
<term>Génétique</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Association</term>
<term>Génétique</term>
<term>Homme</term>
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<front><div type="abstract" xml:lang="en">Many lines of evidence implicate mitochondria in phenotypic variation: (a) rare mutations in mitochondrial proteins cause metabolic, neurological, and muscular disorders; (b) alterations in oxidative phosphorylation are characteristic of type 2 diabetes, Parkinson disease, Huntington disease, and other diseases; and (c) common missense variants in the mitochondrial genome (mtDNA) have been implicated as having been subject to natural selection for adaptation to cold climates and contributing to "energy deficiency" diseases today. To test the hypothesis that common mtDNA variation influences human physiology and disease, we identified all 144 variants with frequency >1% in Europeans from >900 publicly available European mtDNA sequences and selected 64 tagging single-nucleotide polymorphisms that efficiently capture all common variation (except the hypervariable D-loop). Next, we evaluated the complete set of common mtDNA variants for association with type 2 diabetes in a sample of 3,304 diabetics and 3,304 matched nondiabetic individuals. Association of mtDNA variants with other metabolic traits (body mass index, measures of insulin secretion and action, blood pressure, and cholesterol) was also tested in subsets of this sample. We did not find a significant association of common mtDNA variants with these metabolic phenotypes. Moreover, we failed to identify any physiological effect of alleles that were previously proposed to have been adaptive for energy metabolism in human evolution. More generally, this comprehensive association-testing framework can readily be applied to other diseases for which mitochondrial dysfunction has been implicated.</div>
</front>
</TEI>
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<li>États-Unis</li>
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<name sortKey="Hirschhorn, Joel N" sort="Hirschhorn, Joel N" uniqKey="Hirschhorn J" first="Joel N." last="Hirschhorn">Joel N. Hirschhorn</name>
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	La maladie de Parkinson au Canada (serveur d'exploration)
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La maladie de Parkinson au Canada (serveur d'exploration)

Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

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