Polymorphisms in iron-responsive binding protein 2 and lack of association with sporadic Parkinson's disease.
Identifieur interne : 003907 ( PubMed/Curation ); précédent : 003906; suivant : 003908Polymorphisms in iron-responsive binding protein 2 and lack of association with sporadic Parkinson's disease.
Auteurs : Pauline L. Lee [États-Unis] ; Terri Gelbart ; Carol West ; Carol Halloran ; Jack C. Sipe ; Ernest BeutlerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
English descriptors
- KwdEn :
- African Continental Ancestry Group (genetics), Aged, Alleles, Chromosomes, Human, Pair 15, DNA Mutational Analysis, European Continental Ancestry Group (genetics), Exons, Female, Gene Frequency (genetics), Genetics, Population, Heterozygote Detection, Humans, Iron Regulatory Protein 2 (genetics), Male, Middle Aged, Parkinson Disease (genetics), Polymorphism, Genetic (genetics), Sequence Analysis, DNA.
- MESH :
- chemical , genetics : Iron Regulatory Protein 2.
- genetics : African Continental Ancestry Group, European Continental Ancestry Group, Gene Frequency, Parkinson Disease, Polymorphism, Genetic.
- Aged, Alleles, Chromosomes, Human, Pair 15, DNA Mutational Analysis, Exons, Female, Genetics, Population, Heterozygote Detection, Humans, Male, Middle Aged, Sequence Analysis, DNA.
Abstract
Mice with targeted disruptions in the iron-responsive binding protein 2 (IRP2) gene accumulate iron in distinct regions of the brain and develop neurodegenerative characteristics resembling Parkinson's disease after 6 months of age. To determine whether polymorphisms in IRP2 predispose humans to Parkinson's disease (PD), we sequenced the IRP2 gene of subjects with sporadic PD and normal controls. Three polymorphisms which result in an amino acid change were identified: L159V, F272L, and T560I. The L159V and T560I polymorphisms, identified in an African-American PD subject, were found in the African-American population at an allele frequency of 0.102 (n = 1,236) and 0.111 (n = 1,228), respectively, and were not associated with an increased prevalence of PD. The F272L polymorphism was found in a normal 58-year-old, Caucasian subject whose father had PD, but it was not observed in 38 additional patients with sporadic PD. The F272L polymorphism occurred at an allele frequency of 0.0014 (n = 1,384) in the normal Caucasian population. Additional F272L heterozygous subjects identified in the normal population did not have a family or personal history of PD. We conclude that these IRP2 polymorphisms do not play an important role in the development of sporadic cases of PD. It remains to be determined whether other polymorphisms in IRP2 play a role in familial PD.
DOI: 10.1002/mds.10253
PubMed: 12465072
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Lee</name><affiliation wicri:level="1"><nlm:affiliation>The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, California 92037, USA. plee@scripps.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, California 92037</wicri:regionArea></affiliation></author><author><name sortKey="Gelbart, Terri" sort="Gelbart, Terri" uniqKey="Gelbart T" first="Terri" last="Gelbart">Terri Gelbart</name></author><author><name sortKey="West, Carol" sort="West, Carol" uniqKey="West C" first="Carol" last="West">Carol West</name></author><author><name sortKey="Halloran, Carol" sort="Halloran, Carol" uniqKey="Halloran C" first="Carol" last="Halloran">Carol Halloran</name></author><author><name sortKey="Sipe, Jack C" sort="Sipe, Jack C" uniqKey="Sipe J" first="Jack C" last="Sipe">Jack C. Sipe</name></author><author><name sortKey="Beutler, Ernest" sort="Beutler, Ernest" uniqKey="Beutler E" first="Ernest" last="Beutler">Ernest Beutler</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2002">2002</date><idno type="RBID">pubmed:12465072</idno><idno type="pmid">12465072</idno><idno type="doi">10.1002/mds.10253</idno><idno type="wicri:Area/PubMed/Corpus">003907</idno><idno type="wicri:Area/PubMed/Curation">003907</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Polymorphisms in iron-responsive binding protein 2 and lack of association with sporadic Parkinson's disease.</title><author><name sortKey="Lee, Pauline L" sort="Lee, Pauline L" uniqKey="Lee P" first="Pauline L" last="Lee">Pauline L. 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Sipe</name></author><author><name sortKey="Beutler, Ernest" sort="Beutler, Ernest" uniqKey="Beutler E" first="Ernest" last="Beutler">Ernest Beutler</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2002" type="published">2002</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>African Continental Ancestry Group (genetics)</term><term>Aged</term><term>Alleles</term><term>Chromosomes, Human, Pair 15</term><term>DNA Mutational Analysis</term><term>European Continental Ancestry Group (genetics)</term><term>Exons</term><term>Female</term><term>Gene Frequency (genetics)</term><term>Genetics, Population</term><term>Heterozygote Detection</term><term>Humans</term><term>Iron Regulatory Protein 2 (genetics)</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Genetic (genetics)</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Iron Regulatory Protein 2</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>African Continental Ancestry Group</term><term>European Continental Ancestry Group</term><term>Gene Frequency</term><term>Parkinson Disease</term><term>Polymorphism, Genetic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Alleles</term><term>Chromosomes, Human, Pair 15</term><term>DNA Mutational Analysis</term><term>Exons</term><term>Female</term><term>Genetics, Population</term><term>Heterozygote Detection</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Sequence Analysis, DNA</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mice with targeted disruptions in the iron-responsive binding protein 2 (IRP2) gene accumulate iron in distinct regions of the brain and develop neurodegenerative characteristics resembling Parkinson's disease after 6 months of age. To determine whether polymorphisms in IRP2 predispose humans to Parkinson's disease (PD), we sequenced the IRP2 gene of subjects with sporadic PD and normal controls. Three polymorphisms which result in an amino acid change were identified: L159V, F272L, and T560I. The L159V and T560I polymorphisms, identified in an African-American PD subject, were found in the African-American population at an allele frequency of 0.102 (n = 1,236) and 0.111 (n = 1,228), respectively, and were not associated with an increased prevalence of PD. The F272L polymorphism was found in a normal 58-year-old, Caucasian subject whose father had PD, but it was not observed in 38 additional patients with sporadic PD. The F272L polymorphism occurred at an allele frequency of 0.0014 (n = 1,384) in the normal Caucasian population. Additional F272L heterozygous subjects identified in the normal population did not have a family or personal history of PD. We conclude that these IRP2 polymorphisms do not play an important role in the development of sporadic cases of PD. It remains to be determined whether other polymorphisms in IRP2 play a role in familial PD.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">12465072</PMID><DateCreated><Year>2002</Year><Month>12</Month><Day>04</Day></DateCreated><DateCompleted><Year>2003</Year><Month>03</Month><Day>24</Day></DateCompleted><DateRevised><Year>2004</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>17</Volume><Issue>6</Issue><PubDate><Year>2002</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Polymorphisms in iron-responsive binding protein 2 and lack of association with sporadic Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>1302-4</MedlinePgn></Pagination><Abstract><AbstractText>Mice with targeted disruptions in the iron-responsive binding protein 2 (IRP2) gene accumulate iron in distinct regions of the brain and develop neurodegenerative characteristics resembling Parkinson's disease after 6 months of age. To determine whether polymorphisms in IRP2 predispose humans to Parkinson's disease (PD), we sequenced the IRP2 gene of subjects with sporadic PD and normal controls. Three polymorphisms which result in an amino acid change were identified: L159V, F272L, and T560I. The L159V and T560I polymorphisms, identified in an African-American PD subject, were found in the African-American population at an allele frequency of 0.102 (n = 1,236) and 0.111 (n = 1,228), respectively, and were not associated with an increased prevalence of PD. The F272L polymorphism was found in a normal 58-year-old, Caucasian subject whose father had PD, but it was not observed in 38 additional patients with sporadic PD. The F272L polymorphism occurred at an allele frequency of 0.0014 (n = 1,384) in the normal Caucasian population. Additional F272L heterozygous subjects identified in the normal population did not have a family or personal history of PD. We conclude that these IRP2 polymorphisms do not play an important role in the development of sporadic cases of PD. It remains to be determined whether other polymorphisms in IRP2 play a role in familial PD.</AbstractText><CopyrightInformation>Copyright 2002 Movement Disorder Society</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lee</LastName><ForeName>Pauline L</ForeName><Initials>PL</Initials><AffiliationInfo><Affiliation>The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, California 92037, USA. plee@scripps.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gelbart</LastName><ForeName>Terri</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>West</LastName><ForeName>Carol</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Halloran</LastName><ForeName>Carol</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Sipe</LastName><ForeName>Jack C</ForeName><Initials>JC</Initials></Author><Author ValidYN="Y"><LastName>Beutler</LastName><ForeName>Ernest</ForeName><Initials>E</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 4.2.1.3</RegistryNumber><NameOfSubstance UI="D035942">Iron Regulatory Protein 2</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D044383">African Continental Ancestry Group</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000483">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002884">Chromosomes, Human, Pair 15</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D044465">European Continental Ancestry Group</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005091">Exons</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005828">Genetics, Population</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006580">Heterozygote Detection</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D035942">Iron Regulatory Protein 2</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011110">Polymorphism, Genetic</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017422">Sequence Analysis, DNA</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2002</Year><Month>12</Month><Day>5</Day><Hour>4</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2003</Year><Month>3</Month><Day>26</Day><Hour>4</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2002</Year><Month>12</Month><Day>5</Day><Hour>4</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">12465072</ArticleId><ArticleId IdType="doi">10.1002/mds.10253</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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