Fibroblast Growth Factor 20 Polymorphisms and Haplotypes Strongly Influence Risk of Parkinson Disease
Identifieur interne : 000005 ( Pmc/Curation ); précédent : 000004; suivant : 000006Fibroblast Growth Factor 20 Polymorphisms and Haplotypes Strongly Influence Risk of Parkinson Disease
Auteurs : Joelle Van [États-Unis] ; Maher Noureddine [États-Unis] ; Raja Kittappa ; Michael Hauser [États-Unis] ; William Scott [États-Unis] ; Ron Mckay ; Fengyu Zhang [États-Unis] ; Jeffrey Stajich [États-Unis] ; Kenichiro Fujiwara [États-Unis] ; Burton Scott [États-Unis] ; Margaret Pericak [États-Unis] ; Jeffery Vance [États-Unis] ; Eden Martin [États-Unis]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2004.
Abstract
The pathogenic process responsible for the loss of dopaminergic neurons within the substantia nigra of patients with Parkinson disease (PD) is poorly understood. Current research supports the involvement of fibroblast growth factor (FGF20) in the survival of dopaminergic cells. FGF20 is a neurotrophic factor that is preferentially expressed within the substantia nigra of rat brain. The human homologue has been mapped to 8p21.3-8p22, which is within an area of PD linkage revealed through our published genomic screen. To test whether FGF20 influences risk of PD, we genotyped five single-nucleotide polymorphisms (SNPs) lying within the FGF20 gene, in a large family study. We analyzed our sample (644 families) through use of the pedigree disequilibrium test (PDT), the genotype PDT, the multilocus-genotype PDT, and the family-based association test to assess association between risk of PD and alleles, genotypes, multilocus genotypes, and haplotypes. We discovered a highly significant association of PD with one intronic SNP, rs1989754 (
Url:
PubMed: 15122513
PubMed Central: 1182076
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Raja Kittappa<affiliation><nlm:aff id="N0x948a890.0x975afc8">National Institute for Neurological Disorders and Stroke, National Institute of Health, Bethesda</nlm:aff>
<wicri:noCountry code="subfield">Bethesda</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="N0x948a890.0x975afc8">National Institute for Neurological Disorders and Stroke, National Institute of Health, Bethesda</nlm:aff>
<wicri:noCountry code="subfield">Bethesda</wicri:noCountry>
</affiliation>
Le document en format XML
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<author><name sortKey="Zhang, Fengyu" sort="Zhang, Fengyu" uniqKey="Zhang F" first="Fengyu" last="Zhang">Fengyu Zhang</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Fibroblast Growth Factor 20 Polymorphisms and Haplotypes Strongly Influence Risk of Parkinson Disease</title>
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<front><div type="abstract" xml:lang="en"><p>The pathogenic process responsible for the loss of dopaminergic neurons within the substantia nigra of patients with Parkinson disease (PD) is poorly understood. Current research supports the involvement of fibroblast growth factor (FGF20) in the survival of dopaminergic cells. FGF20 is a neurotrophic factor that is preferentially expressed within the substantia nigra of rat brain. The human homologue has been mapped to 8p21.3-8p22, which is within an area of PD linkage revealed through our published genomic screen. To test whether FGF20 influences risk of PD, we genotyped five single-nucleotide polymorphisms (SNPs) lying within the FGF20 gene, in a large family study. We analyzed our sample (644 families) through use of the pedigree disequilibrium test (PDT), the genotype PDT, the multilocus-genotype PDT, and the family-based association test to assess association between risk of PD and alleles, genotypes, multilocus genotypes, and haplotypes. We discovered a highly significant association of PD with one intronic SNP, rs1989754 (<inline-formula><italic>P</italic>
=.0006</inline-formula>
), and two SNPs, rs1721100 (<inline-formula><italic>P</italic>
=.02</inline-formula>
) and ss20399075 (<inline-formula><italic>P</italic>
=.0008</inline-formula>
), located in the 3′ regulatory region in our overall sample. Furthermore, we detected a haplotype (A-G-C-C-T) that is positively associated with risk of PD (<inline-formula><italic>P</italic>
=.0003</inline-formula>
), whereas a second haplotype (A-G-G-G-C) was found to be negatively associated with risk of PD (<inline-formula><italic>P</italic>
=.0009</inline-formula>
). Our results strongly support FGF20 as a risk factor for PD.</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>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id>
<journal-id journal-id-type="publisher-id">AJHG</journal-id>
<journal-title>American Journal of Human Genetics</journal-title>
<issn pub-type="ppub">0002-9297</issn>
<issn pub-type="epub">1537-6605</issn>
<publisher><publisher-name>The American Society of Human Genetics</publisher-name>
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<article-id pub-id-type="publisher-id">40922</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Articles</subject>
</subj-group>
</article-categories>
<title-group><article-title>Fibroblast Growth Factor 20 Polymorphisms and Haplotypes Strongly Influence Risk of Parkinson Disease</article-title>
<alt-title>FGF20 Variants Increase Risk of PD</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>van der Walt</surname>
<given-names>Joelle M.</given-names>
</name>
<xref ref-type="aff" rid="N0x948a890.0x975afc8">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Noureddine</surname>
<given-names>Maher A.</given-names>
</name>
<xref ref-type="aff" rid="N0x948a890.0x975afc8">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kittappa</surname>
<given-names>Raja</given-names>
</name>
<xref ref-type="aff" rid="N0x948a890.0x975afc8">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hauser</surname>
<given-names>Michael A.</given-names>
</name>
<xref ref-type="aff" rid="N0x948a890.0x975afc8">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Scott</surname>
<given-names>William K.</given-names>
</name>
<xref ref-type="aff" rid="N0x948a890.0x975afc8">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>McKay</surname>
<given-names>Ron</given-names>
</name>
<xref ref-type="aff" rid="N0x948a890.0x975afc8">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zhang</surname>
<given-names>Fengyu</given-names>
</name>
<xref ref-type="aff" rid="N0x948a890.0x975afc8">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Stajich</surname>
<given-names>Jeffrey M.</given-names>
</name>
<xref ref-type="aff" rid="N0x948a890.0x975afc8">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Fujiwara</surname>
<given-names>Kenichiro</given-names>
</name>
<xref ref-type="aff" rid="N0x948a890.0x975afc8">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Scott</surname>
<given-names>Burton L.</given-names>
</name>
<xref ref-type="aff" rid="N0x948a890.0x975afc8">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pericak-Vance</surname>
<given-names>Margaret A.</given-names>
</name>
<xref ref-type="aff" rid="N0x948a890.0x975afc8">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Vance</surname>
<given-names>Jeffery M.</given-names>
</name>
<xref ref-type="aff" rid="N0x948a890.0x975afc8">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Martin</surname>
<given-names>Eden R.</given-names>
</name>
<xref ref-type="aff" rid="N0x948a890.0x975afc8">1</xref>
</contrib>
</contrib-group>
<aff id="N0x948a890.0x975afc8"><sup>1</sup>
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC; and<sup>2</sup>
National Institute for Neurological Disorders and Stroke, National Institute of Health, Bethesda</aff>
<author-notes><corresp>Address for correspondence and reprints: Dr. Eden R. Martin, 595 LaSalle Street, Duke University Medical Center, Box 3468, Durham, NC 27710. E-mail: <email>eden.martin@duke.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>6</month>
<year>2004</year>
</pub-date>
<pub-date pub-type="epub"><day>30</day>
<month>4</month>
<year>2004</year>
</pub-date>
<volume>74</volume>
<issue>6</issue>
<fpage>1121</fpage>
<lpage>1127</lpage>
<history><date date-type="received"><day>8</day>
<month>1</month>
<year>2004</year>
</date>
<date date-type="accepted"><day>10</day>
<month>3</month>
<year>2004</year>
</date>
</history>
<copyright-statement>© 2004 by The American Society of Human Genetics. All rights reserved.</copyright-statement>
<copyright-year>2004</copyright-year>
<self-uri>15122513</self-uri>
<abstract><p>The pathogenic process responsible for the loss of dopaminergic neurons within the substantia nigra of patients with Parkinson disease (PD) is poorly understood. Current research supports the involvement of fibroblast growth factor (FGF20) in the survival of dopaminergic cells. FGF20 is a neurotrophic factor that is preferentially expressed within the substantia nigra of rat brain. The human homologue has been mapped to 8p21.3-8p22, which is within an area of PD linkage revealed through our published genomic screen. To test whether FGF20 influences risk of PD, we genotyped five single-nucleotide polymorphisms (SNPs) lying within the FGF20 gene, in a large family study. We analyzed our sample (644 families) through use of the pedigree disequilibrium test (PDT), the genotype PDT, the multilocus-genotype PDT, and the family-based association test to assess association between risk of PD and alleles, genotypes, multilocus genotypes, and haplotypes. We discovered a highly significant association of PD with one intronic SNP, rs1989754 (<inline-formula><italic>P</italic>
=.0006</inline-formula>
), and two SNPs, rs1721100 (<inline-formula><italic>P</italic>
=.02</inline-formula>
) and ss20399075 (<inline-formula><italic>P</italic>
=.0008</inline-formula>
), located in the 3′ regulatory region in our overall sample. Furthermore, we detected a haplotype (A-G-C-C-T) that is positively associated with risk of PD (<inline-formula><italic>P</italic>
=.0003</inline-formula>
), whereas a second haplotype (A-G-G-G-C) was found to be negatively associated with risk of PD (<inline-formula><italic>P</italic>
=.0009</inline-formula>
). Our results strongly support FGF20 as a risk factor for PD.</p>
</abstract>
</article-meta>
</front>
</pmc>
</record>
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