AustralieFrV1, Main, Exploration, bibRecord, 004540

Pooled Analysis of Iron-related Genes in Parkinson’s Disease: Association with Transferrin

Identifieur interne : 004540 ( Main/Exploration ); précédent : 004539; suivant : 004541

Pooled Analysis of Iron-related Genes in Parkinson’s Disease: Association with Transferrin

Auteurs : Shannon L. Rhodes [États-Unis] ; Daniel D. Buchanan [Australie] ; Ismaïl Ahmed [France] ; Kent D. Taylor [États-Unis] ; Marie-Anne Loriot [France] ; Janet S. Sinsheimer [États-Unis] ; Jeff M. Bronstein [États-Unis] ; Alexis Elbaz [France] ; George D. Mellick ; Jerome I. Rotter [États-Unis] ; Beate Ritz [États-Unis]

Source :

Neurobiology of disease [ 0969-9961 ] ; 2013.

RBID : PMC:3968945

Descripteurs français

KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Femelle, Fer (métabolisme), Humains, Jeune adulte, Maladie de Parkinson (génétique), Maladie de Parkinson (métabolisme), Mâle, Polymorphisme de nucléotide simple, Récepteurs à la transferrine (génétique), Sujet âgé, Transferrine (génétique), Études cas-témoins, Études d'associations génétiques.
MESH :
- génétique : Maladie de Parkinson, Récepteurs à la transferrine, Transferrine.
- métabolisme : Fer, Maladie de Parkinson.
- Adolescent, Adulte, Adulte d'âge moyen, Femelle, Humains, Jeune adulte, Mâle, Polymorphisme de nucléotide simple, Sujet âgé, Études cas-témoins, Études d'associations génétiques.

English descriptors

KwdEn :
- Adolescent, Adult, Aged, Case-Control Studies, Female, Genetic Association Studies, Humans, Iron (metabolism), Male, Middle Aged, Parkinson Disease (genetics), Parkinson Disease (metabolism), Polymorphism, Single Nucleotide, Receptors, Transferrin (genetics), Transferrin (genetics), Young Adult.
MESH :
- chemical , genetics : Receptors, Transferrin, Transferrin.
- chemical , metabolism : Iron.
- genetics : Parkinson Disease.
- metabolism : Parkinson Disease.
- Adolescent, Adult, Aged, Case-Control Studies, Female, Genetic Association Studies, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Young Adult.

Abstract

Pathologic features of Parkinson’s disease (PD) include death of dopaminergic neurons in the substantia nigra, presence of α-synuclein containing Lewy bodies, and iron accumulation in PD-related brain regions. The observed iron accumulation may be contributing to PD etiology but it also may be a byproduct of cell death or cellular dysfunction. To elucidate the possible role of iron accumulation in PD, we investigated genetic variation in 16 genes related to iron homeostasis in three case-control studies from the United States, Australia, and France. After screening 90 haplotype tagging single nucleotide polymorphisms (SNPs) within the genes of interest in the US study population, we investigated the five most promising gene regions in two additional independent case-control studies. For the pooled data set (1289 cases, 1391 controls) we observed a protective association (OR=0.83, 95% CI: 0.71-0.96) between PD and a haplotype composed of the A allele at rs1880669 and the T allele at rs1049296 in transferrin (TF; GeneID: 7018). Additionally, we observed a suggestive protective association (OR = 0.87, 95% CI: 0.74-1.02) between PD and a haplotype composed of the G allele at rs10247962 and the A allele at rs4434553 in transferrin receptor 2 (TFR2; GeneID: 7036). We observed no associations in our pooled sample for haplotypes in SLC40A1, CYB561, or HFE. Taken together with previous findings in model systems, our results suggest that TF or a TF-TFR2 complex may have a role in the etiology of PD, possibly through iron misregulation or mitochondrial dysfunction within dopaminergic neurons.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968945

DOI: 10.1016/j.nbd.2013.09.019
PubMed: 24121126
PubMed Central: 3968945

Affiliations:

Le document en format XML

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<placeName><region type="state">Californie</region>
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</author>
<author><name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name>
<affiliation wicri:level="1"><nlm:aff id="A13">Centre for Research in Epidemiology and Population Health, Social and Occupational Determinants of Health, INSERM U1018, F-94807, Villejuif, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre for Research in Epidemiology and Population Health, Social and Occupational Determinants of Health, INSERM U1018, F-94807, Villejuif</wicri:regionArea>
<wicri:noRegion>94807, Villejuif</wicri:noRegion>
<wicri:noRegion>94807, Villejuif</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A14">Univ Versailles St-Quentin, UMRS 1018, F-94807, Villejuif, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Univ Versailles St-Quentin, UMRS 1018, F-94807, Villejuif</wicri:regionArea>
<wicri:noRegion>94807, Villejuif</wicri:noRegion>
<wicri:noRegion>94807, Villejuif</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name>
<affiliation><nlm:aff id="A15">Eskitis Institute for Drug Discovery, Griffith University, Nathan 4111, Brisbane Australia and Department of Neurology, Princess Alexandra Hospital, Brisbane Australia</nlm:aff>
<wicri:noCountry code="subfield">Brisbane Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Rotter, Jerome I" sort="Rotter, Jerome I" uniqKey="Rotter J" first="Jerome I." last="Rotter">Jerome I. Rotter</name>
<affiliation wicri:level="2"><nlm:aff id="A6">Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd Los Angeles, CA 90048; as of July 1, 2013: Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute, Harbor-UCLA Medical Center, 1124 West Carson, Bldg E5, Torrance, CA 90502</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd Los Angeles, CA 90048; as of July 1, 2013: Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute, Harbor-UCLA Medical Center, 1124 West Carson, Bldg E5, Torrance</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Ritz, Beate" sort="Ritz, Beate" uniqKey="Ritz B" first="Beate" last="Ritz">Beate Ritz</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Epidemiology, UCLA Fielding School of Public Health, 650 Charles E. Young Drive S, Los Angeles, CA 90095-1772</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Department of Epidemiology, UCLA Fielding School of Public Health, 650 Charles E. Young Drive S, Los Angeles</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A12">Department of Neurology, David Geffen School of Medicine at UCLA, 710 Westwood Plaza, Los Angeles, CA 90095-1769</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Department of Neurology, David Geffen School of Medicine at UCLA, 710 Westwood Plaza, Los Angeles</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A16">Department of Environmental Health Sciences, UCLA Fielding School of Public Health, 650 Charles E. Young Drive S, Los Angeles, CA 90095-1772</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Department of Environmental Health Sciences, UCLA Fielding School of Public Health, 650 Charles E. Young Drive S, Los Angeles</wicri:cityArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Neurobiology of disease</title>
<idno type="ISSN">0969-9961</idno>
<idno type="eISSN">1095-953X</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Case-Control Studies</term>
<term>Female</term>
<term>Genetic Association Studies</term>
<term>Humans</term>
<term>Iron (metabolism)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (metabolism)</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Receptors, Transferrin (genetics)</term>
<term>Transferrin (genetics)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Femelle</term>
<term>Fer (métabolisme)</term>
<term>Humains</term>
<term>Jeune adulte</term>
<term>Maladie de Parkinson (génétique)</term>
<term>Maladie de Parkinson (métabolisme)</term>
<term>Mâle</term>
<term>Polymorphisme de nucléotide simple</term>
<term>Récepteurs à la transferrine (génétique)</term>
<term>Sujet âgé</term>
<term>Transferrine (génétique)</term>
<term>Études cas-témoins</term>
<term>Études d'associations génétiques</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptors, Transferrin</term>
<term>Transferrin</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Iron</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Récepteurs à la transferrine</term>
<term>Transferrine</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Fer</term>
<term>Maladie de Parkinson</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Case-Control Studies</term>
<term>Female</term>
<term>Genetic Association Studies</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Femelle</term>
<term>Humains</term>
<term>Jeune adulte</term>
<term>Mâle</term>
<term>Polymorphisme de nucléotide simple</term>
<term>Sujet âgé</term>
<term>Études cas-témoins</term>
<term>Études d'associations génétiques</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P1">Pathologic features of Parkinson’s disease (PD) include death of dopaminergic neurons in the substantia nigra, presence of α-synuclein containing Lewy bodies, and iron accumulation in PD-related brain regions. The observed iron accumulation may be contributing to PD etiology but it also may be a byproduct of cell death or cellular dysfunction. To elucidate the possible role of iron accumulation in PD, we investigated genetic variation in 16 genes related to iron homeostasis in three case-control studies from the United States, Australia, and France. After screening 90 haplotype tagging single nucleotide polymorphisms (SNPs) within the genes of interest in the US study population, we investigated the five most promising gene regions in two additional independent case-control studies. For the pooled data set (1289 cases, 1391 controls) we observed a protective association (OR=0.83, 95% CI: 0.71-0.96) between PD and a haplotype composed of the A allele at rs1880669 and the T allele at rs1049296 in <italic>transferrin</italic>
 (<italic>TF</italic>
; GeneID: 7018). Additionally, we observed a suggestive protective association (OR = 0.87, 95% CI: 0.74-1.02) between PD and a haplotype composed of the G allele at rs10247962 and the A allele at rs4434553 in <italic>transferrin receptor 2</italic>
 (<italic>TFR2</italic>
; GeneID: 7036). We observed no associations in our pooled sample for haplotypes in <italic>SLC40A1</italic>
, <italic>CYB561</italic>
, or <italic>HFE</italic>
. Taken together with previous findings in model systems, our results suggest that <italic>TF</italic>
 or a <italic>TF-TFR2</italic>
 complex may have a role in the etiology of PD, possibly through iron misregulation or mitochondrial dysfunction within dopaminergic neurons.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>États-Unis</li>
</country>
<region><li>Californie</li>
<li>Île-de-France</li>
</region>
<settlement><li>Paris</li>
</settlement>
<orgName><li>Sorbonne Paris Cité</li>
<li>Université Paris-Descartes</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D." last="Mellick">George D. Mellick</name>
</noCountry>
<country name="États-Unis"><region name="Californie"><name sortKey="Rhodes, Shannon L" sort="Rhodes, Shannon L" uniqKey="Rhodes S" first="Shannon L." last="Rhodes">Shannon L. Rhodes</name>
</region>
<name sortKey="Bronstein, Jeff M" sort="Bronstein, Jeff M" uniqKey="Bronstein J" first="Jeff M." last="Bronstein">Jeff M. Bronstein</name>
<name sortKey="Ritz, Beate" sort="Ritz, Beate" uniqKey="Ritz B" first="Beate" last="Ritz">Beate Ritz</name>
<name sortKey="Ritz, Beate" sort="Ritz, Beate" uniqKey="Ritz B" first="Beate" last="Ritz">Beate Ritz</name>
<name sortKey="Ritz, Beate" sort="Ritz, Beate" uniqKey="Ritz B" first="Beate" last="Ritz">Beate Ritz</name>
<name sortKey="Rotter, Jerome I" sort="Rotter, Jerome I" uniqKey="Rotter J" first="Jerome I." last="Rotter">Jerome I. Rotter</name>
<name sortKey="Sinsheimer, Janet S" sort="Sinsheimer, Janet S" uniqKey="Sinsheimer J" first="Janet S." last="Sinsheimer">Janet S. Sinsheimer</name>
<name sortKey="Sinsheimer, Janet S" sort="Sinsheimer, Janet S" uniqKey="Sinsheimer J" first="Janet S." last="Sinsheimer">Janet S. Sinsheimer</name>
<name sortKey="Sinsheimer, Janet S" sort="Sinsheimer, Janet S" uniqKey="Sinsheimer J" first="Janet S." last="Sinsheimer">Janet S. Sinsheimer</name>
<name sortKey="Taylor, Kent D" sort="Taylor, Kent D" uniqKey="Taylor K" first="Kent D." last="Taylor">Kent D. Taylor</name>
</country>
<country name="Australie"><noRegion><name sortKey="Buchanan, Daniel D" sort="Buchanan, Daniel D" uniqKey="Buchanan D" first="Daniel D." last="Buchanan">Daniel D. Buchanan</name>
</noRegion>
<name sortKey="Buchanan, Daniel D" sort="Buchanan, Daniel D" uniqKey="Buchanan D" first="Daniel D." last="Buchanan">Daniel D. Buchanan</name>
</country>
<country name="France"><noRegion><name sortKey="Ahmed, Ismail" sort="Ahmed, Ismail" uniqKey="Ahmed I" first="Ismaïl" last="Ahmed">Ismaïl Ahmed</name>
</noRegion>
<name sortKey="Ahmed, Ismail" sort="Ahmed, Ismail" uniqKey="Ahmed I" first="Ismaïl" last="Ahmed">Ismaïl Ahmed</name>
<name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name>
<name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name>
<name sortKey="Loriot, Marie Anne" sort="Loriot, Marie Anne" uniqKey="Loriot M" first="Marie-Anne" last="Loriot">Marie-Anne Loriot</name>
<name sortKey="Loriot, Marie Anne" sort="Loriot, Marie Anne" uniqKey="Loriot M" first="Marie-Anne" last="Loriot">Marie-Anne Loriot</name>
</country>
</tree>
</affiliations>
</record>

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Serveur d'exploration sur les relations entre la France et l'Australie

Pooled Analysis of Iron-related Genes in Parkinson’s Disease: Association with Transferrin

Pooled Analysis of Iron-related Genes in Parkinson’s Disease: Association with Transferrin

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