Genetic association between α‐synuclein and idiopathic parkinson's disease
Identifieur interne : 000D91 ( Main/Exploration ); précédent : 000D90; suivant : 000D92Genetic association between α‐synuclein and idiopathic parkinson's disease
Auteurs : Denise M. Kay [États-Unis] ; Stewart A. Factor [États-Unis, Géorgie (pays)] ; Ali Samii [États-Unis] ; Donald S. Higgins [États-Unis] ; Alida Griffith [États-Unis] ; John W. Roberts [États-Unis] ; Berta C. Leis [États-Unis] ; John G. Nutt [États-Unis] ; Jennifer S. Montimurro [États-Unis] ; Robert G. Keefe [États-Unis] ; April J. Atkins [États-Unis] ; Dora Yearout [États-Unis] ; Cyrus P. Zabetian [États-Unis] ; Haydeh Payami [États-Unis]Source :
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics [ 1552-4841 ] ; 2008-10-05.
English descriptors
Abstract
Point mutations and copy number variations in SNCA, the gene encoding α‐synuclein, cause familial Parkinson's disease (PD). A dinucleotide polymorphism (REP1) in the SNCA promoter may be a risk factor for common forms of PD. We studied 1,802 PD patients and 2,129 controls from the NeuroGenetics Research Consortium, using uniform, standardized protocols for diagnosis, subject recruitment, data collection, genotyping, and data analysis. Three common REP1 alleles (257, 259, and 261 bp, with control frequencies of 0.28, 0.65, and 0.06) and several rare alleles (combined frequency <0.01) were detected. We confirmed association of REP1 with PD risk [odds ratio (OR) = 0.86, P = 0.006 for 257‐carriers; OR = 1.25, P = 0.022 for 261‐carriers]. Using a normalization procedure, we showed that the 257 and 261 alleles are both independently associated with PD risk (for 257, P = 0.002 in overall data, 0.003 in non‐familial PD, 0.001 in early‐onset PD; for 261, P = 0.056 in overall data, 0.024 in non‐familial PD, 0.052 in early‐onset PD). The 257‐associated risk was consistent with a dominant model [hazard ratio (HR) = 0.99, P = 0.91 for 257/257 vs. 257/X where X denotes all other common alleles; HR = 1.16, P = 0.004 for X/X vs. 257/X]. The 261‐associated risk was consistent with a recessive model (HR = 1.89, P = 0.026 for 261/261 vs. 261/X; HR = 0.95, P = 0.42 for X/X vs. 261/X). Genotype‐specific mean onset ages (±SD) ranged from 54.8 ± 12.1 for 261/261 to 59.4 ± 11.5 for 257/257, displaying a trend of decreasing onset age with increasing allele size (P = 0.055). Genetic variation in SNCA and its regulatory regions play an important role in both familial and sporadic PD. © 2008 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.b.30758
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Roberts</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Virginia Mason Medical Center, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Leis, Berta C" sort="Leis, Berta C" uniqKey="Leis B" first="Berta C." last="Leis">Berta C. Leis</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Booth Gardner Parkinson's Care Center, Evergreen Hospital Medical Center, Kirkland</wicri:cityArea></affiliation></author><author><name sortKey="Nutt, John G" sort="Nutt, John G" uniqKey="Nutt J" first="John G." last="Nutt">John G. Nutt</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Oregon</region></placeName><wicri:cityArea>Department of Neurology, Oregon Health and Science University, Portland</wicri:cityArea></affiliation></author><author><name sortKey="Montimurro, Jennifer S" sort="Montimurro, Jennifer S" uniqKey="Montimurro J" first="Jennifer S." last="Montimurro">Jennifer S. Montimurro</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Division of Genetic Disorders, Wadsworth Center, New York State Department of Health, Albany</wicri:cityArea></affiliation></author><author><name sortKey="Keefe, Robert G" sort="Keefe, Robert G" uniqKey="Keefe R" first="Robert G." last="Keefe">Robert G. 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J. Med. Genet.</title><idno type="ISSN">1552-4841</idno><idno type="eISSN">1552-485X</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-10-05">2008-10-05</date><biblScope unit="volume">147B</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1222">1222</biblScope><biblScope unit="page" to="1230">1230</biblScope></imprint><idno type="ISSN">1552-4841</idno></series><idno type="istex">71249AF25E4410CF43277E6F33BF9D37CDB382E9</idno><idno type="DOI">10.1002/ajmg.b.30758</idno><idno type="ArticleID">AJMG30758</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4841</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>REP1</term><term>age at onset</term><term>mode of inheritance</term><term>relative predispositional effects</term><term>risk</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Point mutations and copy number variations in SNCA, the gene encoding α‐synuclein, cause familial Parkinson's disease (PD). A dinucleotide polymorphism (REP1) in the SNCA promoter may be a risk factor for common forms of PD. We studied 1,802 PD patients and 2,129 controls from the NeuroGenetics Research Consortium, using uniform, standardized protocols for diagnosis, subject recruitment, data collection, genotyping, and data analysis. Three common REP1 alleles (257, 259, and 261 bp, with control frequencies of 0.28, 0.65, and 0.06) and several rare alleles (combined frequency <0.01) were detected. We confirmed association of REP1 with PD risk [odds ratio (OR) = 0.86, P = 0.006 for 257‐carriers; OR = 1.25, P = 0.022 for 261‐carriers]. Using a normalization procedure, we showed that the 257 and 261 alleles are both independently associated with PD risk (for 257, P = 0.002 in overall data, 0.003 in non‐familial PD, 0.001 in early‐onset PD; for 261, P = 0.056 in overall data, 0.024 in non‐familial PD, 0.052 in early‐onset PD). The 257‐associated risk was consistent with a dominant model [hazard ratio (HR) = 0.99, P = 0.91 for 257/257 vs. 257/X where X denotes all other common alleles; HR = 1.16, P = 0.004 for X/X vs. 257/X]. The 261‐associated risk was consistent with a recessive model (HR = 1.89, P = 0.026 for 261/261 vs. 261/X; HR = 0.95, P = 0.42 for X/X vs. 261/X). Genotype‐specific mean onset ages (±SD) ranged from 54.8 ± 12.1 for 261/261 to 59.4 ± 11.5 for 257/257, displaying a trend of decreasing onset age with increasing allele size (P = 0.055). Genetic variation in SNCA and its regulatory regions play an important role in both familial and sporadic PD. © 2008 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Géorgie (pays)</li><li>États-Unis</li></country><region><li>Oregon</li><li>Washington (État)</li><li>État de New York</li></region></list><tree><country name="États-Unis"><region name="État de New York"><name sortKey="Kay, Denise M" sort="Kay, Denise M" uniqKey="Kay D" first="Denise M." last="Kay">Denise M. Kay</name></region><name sortKey="Atkins, April J" sort="Atkins, April J" uniqKey="Atkins A" first="April J." last="Atkins">April J. Atkins</name><name sortKey="Factor, Stewart A" sort="Factor, Stewart A" uniqKey="Factor S" first="Stewart A." last="Factor">Stewart A. Factor</name><name sortKey="Griffith, Alida" sort="Griffith, Alida" uniqKey="Griffith A" first="Alida" last="Griffith">Alida Griffith</name><name sortKey="Higgins, Donald S" sort="Higgins, Donald S" uniqKey="Higgins D" first="Donald S." last="Higgins">Donald S. Higgins</name><name sortKey="Keefe, Robert G" sort="Keefe, Robert G" uniqKey="Keefe R" first="Robert G." last="Keefe">Robert G. Keefe</name><name sortKey="Leis, Berta C" sort="Leis, Berta C" uniqKey="Leis B" first="Berta C." last="Leis">Berta C. Leis</name><name sortKey="Montimurro, Jennifer S" sort="Montimurro, Jennifer S" uniqKey="Montimurro J" first="Jennifer S." last="Montimurro">Jennifer S. Montimurro</name><name sortKey="Nutt, John G" sort="Nutt, John G" uniqKey="Nutt J" first="John G." last="Nutt">John G. Nutt</name><name sortKey="Payami, Haydeh" sort="Payami, Haydeh" uniqKey="Payami H" first="Haydeh" last="Payami">Haydeh Payami</name><name sortKey="Roberts, John W" sort="Roberts, John W" uniqKey="Roberts J" first="John W." last="Roberts">John W. Roberts</name><name sortKey="Samii, Ali" sort="Samii, Ali" uniqKey="Samii A" first="Ali" last="Samii">Ali Samii</name><name sortKey="Samii, Ali" sort="Samii, Ali" uniqKey="Samii A" first="Ali" last="Samii">Ali Samii</name><name sortKey="Yearout, Dora" sort="Yearout, Dora" uniqKey="Yearout D" first="Dora" last="Yearout">Dora Yearout</name><name sortKey="Yearout, Dora" sort="Yearout, Dora" uniqKey="Yearout D" first="Dora" last="Yearout">Dora Yearout</name><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name></country><country name="Géorgie (pays)"><noRegion><name sortKey="Factor, Stewart A" sort="Factor, Stewart A" uniqKey="Factor S" first="Stewart A." last="Factor">Stewart A. Factor</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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