Pooled Analysis of Iron-related Genes in Parkinson’s Disease: Association with Transferrin
Identifieur interne : 002171 ( Pmc/Corpus ); précédent : 002170; suivant : 002172Pooled Analysis of Iron-related Genes in Parkinson’s Disease: Association with Transferrin
Auteurs : Shannon L. Rhodes ; Daniel D. Buchanan ; Ismaïl Ahmed ; Kent D. Taylor ; Marie-Anne Loriot ; Janet S. Sinsheimer ; Jeff M. Bronstein ; Alexis Elbaz ; George D. Mellick ; Jerome I. Rotter ; Beate RitzSource :
- Neurobiology of disease [ 0969-9961 ] ; 2013.
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
Url:
DOI: 10.1016/j.nbd.2013.09.019
PubMed: 24121126
PubMed Central: 3968945
Links to Exploration step
PMC:3968945Le document en format XML
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<author><name sortKey="Rhodes, Shannon L" sort="Rhodes, Shannon L" uniqKey="Rhodes S" first="Shannon L." last="Rhodes">Shannon L. Rhodes</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Buchanan, Daniel D" sort="Buchanan, Daniel D" uniqKey="Buchanan D" first="Daniel D." last="Buchanan">Daniel D. Buchanan</name>
<affiliation><nlm:aff id="A2">Cancer and Population Studies Group, Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, QLD, 4006, Australia</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A3">University of Queensland, School of Medicine, Princess Alexandra Hospital, Brisbane, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Ahmed, Ismail" sort="Ahmed, Ismail" uniqKey="Ahmed I" first="Ismaïl" last="Ahmed">Ismaïl Ahmed</name>
<affiliation><nlm:aff id="A4">Centre for Research in Epidemiology and Population Health, Biostatistics team, INSERM U1018, F-94276, le Kremlin Bicêtre, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A5">Univ Paris-Sud, UMRS 1018, F-94276, le Kremlin Bicêtre, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Taylor, Kent D" sort="Taylor, Kent D" uniqKey="Taylor K" first="Kent D." last="Taylor">Kent D. Taylor</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Loriot, Marie Anne" sort="Loriot, Marie Anne" uniqKey="Loriot M" first="Marie-Anne" last="Loriot">Marie-Anne Loriot</name>
<affiliation><nlm:aff id="A7">Sorbonne Paris Cité, INSERM UMR-S 775, Université Paris Descartes, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A8">Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Biochimie, Unité Fonctionnelle de Pharmacogénétique et Oncologie Moléculaire, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sinsheimer, Janet S" sort="Sinsheimer, Janet S" uniqKey="Sinsheimer J" first="Janet S." last="Sinsheimer">Janet S. Sinsheimer</name>
<affiliation><nlm:aff id="A9">Department of Human Genetics, David Geffen School of Medicine at UCLA, 695 Charles E. Young Drive South, Box 708822, Los Angeles, CA 90095-7088</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A10">Department of Biomathematics, David Geffen School of Medicine at UCLA, Box 951766, Room 5303 Life Sciences, Los Angeles, CA 90095-1766</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A11">Department of Biostatistics, UCLA Fielding School of Public Health, 650 Charles E. Young Drive S, Los Angeles, CA 90095-1772</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bronstein, Jeff M" sort="Bronstein, Jeff M" uniqKey="Bronstein J" first="Jeff M." last="Bronstein">Jeff M. Bronstein</name>
<affiliation><nlm:aff id="A12">Department of Neurology, David Geffen School of Medicine at UCLA, 710 Westwood Plaza, Los Angeles, CA 90095-1769</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name>
<affiliation><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>
</affiliation>
<affiliation><nlm:aff id="A14">Univ Versailles St-Quentin, UMRS 1018, F-94807, Villejuif, France</nlm:aff>
</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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Ritz, Beate" sort="Ritz, Beate" uniqKey="Ritz B" first="Beate" last="Ritz">Beate Ritz</name>
<affiliation><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>
</affiliation>
<affiliation><nlm:aff id="A12">Department of Neurology, David Geffen School of Medicine at UCLA, 710 Westwood Plaza, Los Angeles, CA 90095-1769</nlm:aff>
</affiliation>
<affiliation><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>
</affiliation>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Pooled Analysis of Iron-related Genes in Parkinson’s Disease: Association with Transferrin</title>
<author><name sortKey="Rhodes, Shannon L" sort="Rhodes, Shannon L" uniqKey="Rhodes S" first="Shannon L." last="Rhodes">Shannon L. Rhodes</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Buchanan, Daniel D" sort="Buchanan, Daniel D" uniqKey="Buchanan D" first="Daniel D." last="Buchanan">Daniel D. Buchanan</name>
<affiliation><nlm:aff id="A2">Cancer and Population Studies Group, Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, QLD, 4006, Australia</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A3">University of Queensland, School of Medicine, Princess Alexandra Hospital, Brisbane, Australia</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Ahmed, Ismail" sort="Ahmed, Ismail" uniqKey="Ahmed I" first="Ismaïl" last="Ahmed">Ismaïl Ahmed</name>
<affiliation><nlm:aff id="A4">Centre for Research in Epidemiology and Population Health, Biostatistics team, INSERM U1018, F-94276, le Kremlin Bicêtre, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A5">Univ Paris-Sud, UMRS 1018, F-94276, le Kremlin Bicêtre, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Taylor, Kent D" sort="Taylor, Kent D" uniqKey="Taylor K" first="Kent D." last="Taylor">Kent D. Taylor</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Loriot, Marie Anne" sort="Loriot, Marie Anne" uniqKey="Loriot M" first="Marie-Anne" last="Loriot">Marie-Anne Loriot</name>
<affiliation><nlm:aff id="A7">Sorbonne Paris Cité, INSERM UMR-S 775, Université Paris Descartes, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A8">Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Biochimie, Unité Fonctionnelle de Pharmacogénétique et Oncologie Moléculaire, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Sinsheimer, Janet S" sort="Sinsheimer, Janet S" uniqKey="Sinsheimer J" first="Janet S." last="Sinsheimer">Janet S. Sinsheimer</name>
<affiliation><nlm:aff id="A9">Department of Human Genetics, David Geffen School of Medicine at UCLA, 695 Charles E. Young Drive South, Box 708822, Los Angeles, CA 90095-7088</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A10">Department of Biomathematics, David Geffen School of Medicine at UCLA, Box 951766, Room 5303 Life Sciences, Los Angeles, CA 90095-1766</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A11">Department of Biostatistics, UCLA Fielding School of Public Health, 650 Charles E. Young Drive S, Los Angeles, CA 90095-1772</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bronstein, Jeff M" sort="Bronstein, Jeff M" uniqKey="Bronstein J" first="Jeff M." last="Bronstein">Jeff M. Bronstein</name>
<affiliation><nlm:aff id="A12">Department of Neurology, David Geffen School of Medicine at UCLA, 710 Westwood Plaza, Los Angeles, CA 90095-1769</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Elbaz, Alexis" sort="Elbaz, Alexis" uniqKey="Elbaz A" first="Alexis" last="Elbaz">Alexis Elbaz</name>
<affiliation><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>
</affiliation>
<affiliation><nlm:aff id="A14">Univ Versailles St-Quentin, UMRS 1018, F-94807, Villejuif, France</nlm:aff>
</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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Ritz, Beate" sort="Ritz, Beate" uniqKey="Ritz B" first="Beate" last="Ritz">Beate Ritz</name>
<affiliation><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>
</affiliation>
<affiliation><nlm:aff id="A12">Department of Neurology, David Geffen School of Medicine at UCLA, 710 Westwood Plaza, Los Angeles, CA 90095-1769</nlm:aff>
</affiliation>
<affiliation><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>
</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>
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<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>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9500169</journal-id>
<journal-id journal-id-type="pubmed-jr-id">20475</journal-id>
<journal-id journal-id-type="nlm-ta">Neurobiol Dis</journal-id>
<journal-id journal-id-type="iso-abbrev">Neurobiol. Dis.</journal-id>
<journal-title-group><journal-title>Neurobiology of disease</journal-title>
</journal-title-group>
<issn pub-type="ppub">0969-9961</issn>
<issn pub-type="epub">1095-953X</issn>
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<article-id pub-id-type="pmc">3968945</article-id>
<article-id pub-id-type="doi">10.1016/j.nbd.2013.09.019</article-id>
<article-id pub-id-type="manuscript">NIHMS535451</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Pooled Analysis of Iron-related Genes in Parkinson’s Disease: Association with Transferrin</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Rhodes</surname>
<given-names>Shannon L.</given-names>
</name>
<xref ref-type="aff" rid="A1">a</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Buchanan</surname>
<given-names>Daniel D.</given-names>
</name>
<xref ref-type="aff" rid="A2">b</xref>
<xref ref-type="aff" rid="A3">c</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ahmed</surname>
<given-names>Ismaïl</given-names>
</name>
<xref ref-type="aff" rid="A4">d</xref>
<xref ref-type="aff" rid="A5">e</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Taylor</surname>
<given-names>Kent D.</given-names>
</name>
<xref ref-type="aff" rid="A6">f</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Loriot</surname>
<given-names>Marie-Anne</given-names>
</name>
<xref ref-type="aff" rid="A7">g</xref>
<xref ref-type="aff" rid="A8">h</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Sinsheimer</surname>
<given-names>Janet S.</given-names>
</name>
<xref ref-type="aff" rid="A9">i</xref>
<xref ref-type="aff" rid="A10">j</xref>
<xref ref-type="aff" rid="A11">k</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bronstein</surname>
<given-names>Jeff M.</given-names>
</name>
<xref ref-type="aff" rid="A12">l</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Elbaz</surname>
<given-names>Alexis</given-names>
</name>
<xref ref-type="aff" rid="A13">m</xref>
<xref ref-type="aff" rid="A14">n</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mellick</surname>
<given-names>George D.</given-names>
</name>
<xref ref-type="aff" rid="A15">o</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rotter</surname>
<given-names>Jerome I.</given-names>
</name>
<xref ref-type="aff" rid="A6">f</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ritz</surname>
<given-names>Beate</given-names>
</name>
<xref ref-type="aff" rid="A1">a</xref>
<xref ref-type="aff" rid="A12">l</xref>
<xref ref-type="aff" rid="A16">p</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>a</label>
Department of Epidemiology, UCLA Fielding School of Public Health, 650 Charles E. Young Drive S, Los Angeles, CA 90095-1772</aff>
<aff id="A2"><label>b</label>
Cancer and Population Studies Group, Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, QLD, 4006, Australia</aff>
<aff id="A3"><label>c</label>
University of Queensland, School of Medicine, Princess Alexandra Hospital, Brisbane, Australia</aff>
<aff id="A4"><label>d</label>
Centre for Research in Epidemiology and Population Health, Biostatistics team, INSERM U1018, F-94276, le Kremlin Bicêtre, France</aff>
<aff id="A5"><label>e</label>
Univ Paris-Sud, UMRS 1018, F-94276, le Kremlin Bicêtre, France</aff>
<aff id="A6"><label>f</label>
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</aff>
<aff id="A7"><label>g</label>
Sorbonne Paris Cité, INSERM UMR-S 775, Université Paris Descartes, France</aff>
<aff id="A8"><label>h</label>
Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Biochimie, Unité Fonctionnelle de Pharmacogénétique et Oncologie Moléculaire, France</aff>
<aff id="A9"><label>i</label>
Department of Human Genetics, David Geffen School of Medicine at UCLA, 695 Charles E. Young Drive South, Box 708822, Los Angeles, CA 90095-7088</aff>
<aff id="A10"><label>j</label>
Department of Biomathematics, David Geffen School of Medicine at UCLA, Box 951766, Room 5303 Life Sciences, Los Angeles, CA 90095-1766</aff>
<aff id="A11"><label>k</label>
Department of Biostatistics, UCLA Fielding School of Public Health, 650 Charles E. Young Drive S, Los Angeles, CA 90095-1772</aff>
<aff id="A12"><label>l</label>
Department of Neurology, David Geffen School of Medicine at UCLA, 710 Westwood Plaza, Los Angeles, CA 90095-1769</aff>
<aff id="A13"><label>m</label>
Centre for Research in Epidemiology and Population Health, Social and Occupational Determinants of Health, INSERM U1018, F-94807, Villejuif, France</aff>
<aff id="A14"><label>n</label>
Univ Versailles St-Quentin, UMRS 1018, F-94807, Villejuif, France</aff>
<aff id="A15"><label>o</label>
Eskitis Institute for Drug Discovery, Griffith University, Nathan 4111, Brisbane Australia and Department of Neurology, Princess Alexandra Hospital, Brisbane Australia</aff>
<aff id="A16"><label>p</label>
Department of Environmental Health Sciences, UCLA Fielding School of Public Health, 650 Charles E. Young Drive S, Los Angeles, CA 90095-1772</aff>
<author-notes><corresp id="cor1">Corresponding Author: Shannon L Rhodes, Department of Epidemiology, UCLA Fielding School of Public Health, 650 Charles E. Young Drive S, Los Angeles, CA 90095-1772, 310-206-7458, <email>shannon.rhodes@ucla.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>16</day>
<month>12</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="epub"><day>08</day>
<month>10</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="ppub"><month>2</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>01</day>
<month>2</month>
<year>2015</year>
</pub-date>
<volume>62</volume>
<fpage>172</fpage>
<lpage>178</lpage>
<pmc-comment>elocation-id from pubmed: 10.1016/j.nbd.2013.09.019</pmc-comment>
<permissions><copyright-statement>© 2013 Elsevier Inc. All rights reserved.</copyright-statement>
<copyright-year>2013</copyright-year>
</permissions>
<abstract><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>
</abstract>
<kwd-group><kwd>Epidemiology</kwd>
<kwd>genetics</kwd>
<kwd>pooled-analysis</kwd>
<kwd>iron homeostasis</kwd>
<kwd>transferrin</kwd>
<kwd>transferrin receptor 2</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>
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