A Search for SNCA 3′ UTR Variants Identified SNP rs356165 as a Determinant of Disease Risk and Onset Age in Parkinson’s Disease
Alpha-synuclein gene ( SNCA ) polymorphisms have been associated with the common sporadic form of Parkinson’s disease (PD). We searched for DNA variants at the SNCA 3′ UTR through single strand conformation analysis and direct sequencing in a cohort of Spanish PD patients and controls. We have genot...
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| Veröffentlicht in: | Journal of molecular neuroscience 2012-07, Vol.47 (3), p.425-430 |
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| creator | Cardo, Lucía F. Coto, Eliecer de Mena, Lorena Ribacoba, René Lorenzo-Betancor, Oswaldo Pastor, Pau Samaranch, LLuis Mata, Ignacio F. Díaz, Marta Moris, Germán Menéndez, Manuel Corao, Ana I. Alvarez, Victoria |
| description | Alpha-synuclein gene (
SNCA
) polymorphisms have been associated with the common sporadic form of Parkinson’s disease (PD). We searched for DNA variants at the
SNCA
3′ UTR through single strand conformation analysis and direct sequencing in a cohort of Spanish PD patients and controls. We have genotyped the rs356165
SNCA
3′ UTR polymorphism in a total of 1,135 PD patients and 772 healthy controls from two Spanish cohorts (Asturias and Navarre). We identified six
SNCA
3′ UTR variants. Single nucleotide polymorphism (SNP) rs356165 was significantly associated with PD risk in the Spanish cohort (
p
= 0.0001; odd ratio = 1.37, 95%CI = 1.19–1.58). This SNP was also significantly associated with early age at onset of PD. Our work highlights rs356165 as an important determinant of the risk of developing PD and early age at onset and encourages future research to identify a functional effect on
SNCA
expression. |
| doi_str_mv | 10.1007/s12031-011-9669-1 |
| format | Article |
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SNCA
) polymorphisms have been associated with the common sporadic form of Parkinson’s disease (PD). We searched for DNA variants at the
SNCA
3′ UTR through single strand conformation analysis and direct sequencing in a cohort of Spanish PD patients and controls. We have genotyped the rs356165
SNCA
3′ UTR polymorphism in a total of 1,135 PD patients and 772 healthy controls from two Spanish cohorts (Asturias and Navarre). We identified six
SNCA
3′ UTR variants. Single nucleotide polymorphism (SNP) rs356165 was significantly associated with PD risk in the Spanish cohort (
p
= 0.0001; odd ratio = 1.37, 95%CI = 1.19–1.58). This SNP was also significantly associated with early age at onset of PD. Our work highlights rs356165 as an important determinant of the risk of developing PD and early age at onset and encourages future research to identify a functional effect on
SNCA
expression.</description><identifier>ISSN: 0895-8696</identifier><identifier>EISSN: 1559-1166</identifier><identifier>DOI: 10.1007/s12031-011-9669-1</identifier><identifier>PMID: 22076805</identifier><language>eng</language><publisher>New York: Humana Press Inc</publisher><subject>3' Untranslated Regions - genetics ; Adult ; Age ; Age of Onset ; Aged ; alpha-Synuclein - genetics ; Biomedical and Life Sciences ; Biomedicine ; Cell Biology ; Chi-square test ; Conformation ; DNA sequencing ; Family medical history ; Female ; Gene polymorphism ; Genetic Predisposition to Disease - epidemiology ; Genetic Predisposition to Disease - genetics ; Genetic Variation - genetics ; Health risk assessment ; Humans ; Male ; Middle Aged ; Movement disorders ; Mutation ; Nervous system ; Neurochemistry ; Neurodegenerative diseases ; Neurology ; Neurosciences ; Parkinson Disease - epidemiology ; Parkinson Disease - genetics ; Parkinson's disease ; Polymorphism ; Polymorphism, Single Nucleotide - genetics ; Proteomics ; Risk Factors ; Single-nucleotide polymorphism ; Spain - epidemiology ; Synuclein</subject><ispartof>Journal of molecular neuroscience, 2012-07, Vol.47 (3), p.425-430</ispartof><rights>Springer Science+Business Media, LLC 2011</rights><rights>Springer Science+Business Media, LLC 2012</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c405t-293a6d8d2c6c65e54c3d76ca1f21853531d65d7409201c161d7a194ad19d59993</citedby><cites>FETCH-LOGICAL-c405t-293a6d8d2c6c65e54c3d76ca1f21853531d65d7409201c161d7a194ad19d59993</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s12031-011-9669-1$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12031-011-9669-1$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22076805$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cardo, Lucía F.</creatorcontrib><creatorcontrib>Coto, Eliecer</creatorcontrib><creatorcontrib>de Mena, Lorena</creatorcontrib><creatorcontrib>Ribacoba, René</creatorcontrib><creatorcontrib>Lorenzo-Betancor, Oswaldo</creatorcontrib><creatorcontrib>Pastor, Pau</creatorcontrib><creatorcontrib>Samaranch, LLuis</creatorcontrib><creatorcontrib>Mata, Ignacio F.</creatorcontrib><creatorcontrib>Díaz, Marta</creatorcontrib><creatorcontrib>Moris, Germán</creatorcontrib><creatorcontrib>Menéndez, Manuel</creatorcontrib><creatorcontrib>Corao, Ana I.</creatorcontrib><creatorcontrib>Alvarez, Victoria</creatorcontrib><title>A Search for SNCA 3′ UTR Variants Identified SNP rs356165 as a Determinant of Disease Risk and Onset Age in Parkinson’s Disease</title><title>Journal of molecular neuroscience</title><addtitle>J Mol Neurosci</addtitle><addtitle>J Mol Neurosci</addtitle><description>Alpha-synuclein gene (
SNCA
) polymorphisms have been associated with the common sporadic form of Parkinson’s disease (PD). We searched for DNA variants at the
SNCA
3′ UTR through single strand conformation analysis and direct sequencing in a cohort of Spanish PD patients and controls. We have genotyped the rs356165
SNCA
3′ UTR polymorphism in a total of 1,135 PD patients and 772 healthy controls from two Spanish cohorts (Asturias and Navarre). We identified six
SNCA
3′ UTR variants. Single nucleotide polymorphism (SNP) rs356165 was significantly associated with PD risk in the Spanish cohort (
p
= 0.0001; odd ratio = 1.37, 95%CI = 1.19–1.58). This SNP was also significantly associated with early age at onset of PD. Our work highlights rs356165 as an important determinant of the risk of developing PD and early age at onset and encourages future research to identify a functional effect on
SNCA
expression.</description><subject>3' Untranslated Regions - genetics</subject><subject>Adult</subject><subject>Age</subject><subject>Age of Onset</subject><subject>Aged</subject><subject>alpha-Synuclein - genetics</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cell Biology</subject><subject>Chi-square test</subject><subject>Conformation</subject><subject>DNA sequencing</subject><subject>Family medical history</subject><subject>Female</subject><subject>Gene polymorphism</subject><subject>Genetic Predisposition to Disease - epidemiology</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genetic Variation - genetics</subject><subject>Health risk assessment</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Movement disorders</subject><subject>Mutation</subject><subject>Nervous system</subject><subject>Neurochemistry</subject><subject>Neurodegenerative diseases</subject><subject>Neurology</subject><subject>Neurosciences</subject><subject>Parkinson Disease - epidemiology</subject><subject>Parkinson Disease - genetics</subject><subject>Parkinson's disease</subject><subject>Polymorphism</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Proteomics</subject><subject>Risk Factors</subject><subject>Single-nucleotide polymorphism</subject><subject>Spain - epidemiology</subject><subject>Synuclein</subject><issn>0895-8696</issn><issn>1559-1166</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqN0c9qFTEUBvAgir1WH8CNHHDjZjQnMzmTLC-3VgvFlv5xO8RJpqa9N1Nz5i7cFfoUvoaP1Ccxl9uKCIKrBPI73yF8QrxE-RalbN8xKlljJRErS2QrfCRmqHW5INFjMZPG6sqQpR3xjPlSSoUNmqdiRynZkpF6Jm7ncBpc7r_CMGY4_bSYQ3138xPOz07gs8vRpYnhwIc0xSEGX8QxZK41IWlwDA72whTyKqYiYRxgL3JwHOAk8hW45OEocZhgfhEgJjh2-SomHtPdzQ9-sM_Fk8EtOby4P3fF-f77s8XH6vDow8Fiflj1jdRTpWztyBuveupJB930tW-pdzgoNLrWNXrSvm2kVRJ7JPStQ9s4j9Zra229K95sc6_z-G0deOpWkfuwXLoUxjV3KJWRqlFW_QdFS2WNbAp9_Re9HNc5lY9slDFaUUtF4Vb1eWTOYeiuc1y5_L2gblNmty2zK2V2mzI7LDOv7pPXX1bB_554aK8AtQVcntJFyH-u_lfqL11fpo4</recordid><startdate>20120701</startdate><enddate>20120701</enddate><creator>Cardo, Lucía F.</creator><creator>Coto, Eliecer</creator><creator>de Mena, Lorena</creator><creator>Ribacoba, René</creator><creator>Lorenzo-Betancor, Oswaldo</creator><creator>Pastor, Pau</creator><creator>Samaranch, LLuis</creator><creator>Mata, Ignacio F.</creator><creator>Díaz, Marta</creator><creator>Moris, Germán</creator><creator>Menéndez, Manuel</creator><creator>Corao, Ana I.</creator><creator>Alvarez, Victoria</creator><general>Humana Press Inc</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QL</scope><scope>7QR</scope><scope>7T7</scope><scope>7TK</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>M7N</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20120701</creationdate><title>A Search for SNCA 3′ UTR Variants Identified SNP rs356165 as a Determinant of Disease Risk and Onset Age in Parkinson’s Disease</title><author>Cardo, Lucía F. ; Coto, Eliecer ; de Mena, Lorena ; Ribacoba, René ; Lorenzo-Betancor, Oswaldo ; Pastor, Pau ; Samaranch, LLuis ; Mata, Ignacio F. ; Díaz, Marta ; Moris, Germán ; Menéndez, Manuel ; Corao, Ana I. ; Alvarez, Victoria</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c405t-293a6d8d2c6c65e54c3d76ca1f21853531d65d7409201c161d7a194ad19d59993</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>3' Untranslated Regions - genetics</topic><topic>Adult</topic><topic>Age</topic><topic>Age of Onset</topic><topic>Aged</topic><topic>alpha-Synuclein - genetics</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cell Biology</topic><topic>Chi-square test</topic><topic>Conformation</topic><topic>DNA sequencing</topic><topic>Family medical history</topic><topic>Female</topic><topic>Gene polymorphism</topic><topic>Genetic Predisposition to Disease - epidemiology</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genetic Variation - genetics</topic><topic>Health risk assessment</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Movement disorders</topic><topic>Mutation</topic><topic>Nervous system</topic><topic>Neurochemistry</topic><topic>Neurodegenerative diseases</topic><topic>Neurology</topic><topic>Neurosciences</topic><topic>Parkinson Disease - epidemiology</topic><topic>Parkinson Disease - genetics</topic><topic>Parkinson's disease</topic><topic>Polymorphism</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Proteomics</topic><topic>Risk Factors</topic><topic>Single-nucleotide polymorphism</topic><topic>Spain - epidemiology</topic><topic>Synuclein</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cardo, Lucía F.</creatorcontrib><creatorcontrib>Coto, Eliecer</creatorcontrib><creatorcontrib>de Mena, Lorena</creatorcontrib><creatorcontrib>Ribacoba, René</creatorcontrib><creatorcontrib>Lorenzo-Betancor, Oswaldo</creatorcontrib><creatorcontrib>Pastor, Pau</creatorcontrib><creatorcontrib>Samaranch, LLuis</creatorcontrib><creatorcontrib>Mata, Ignacio F.</creatorcontrib><creatorcontrib>Díaz, Marta</creatorcontrib><creatorcontrib>Moris, Germán</creatorcontrib><creatorcontrib>Menéndez, Manuel</creatorcontrib><creatorcontrib>Corao, Ana I.</creatorcontrib><creatorcontrib>Alvarez, Victoria</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Chemoreception Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of molecular neuroscience</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cardo, Lucía F.</au><au>Coto, Eliecer</au><au>de Mena, Lorena</au><au>Ribacoba, René</au><au>Lorenzo-Betancor, Oswaldo</au><au>Pastor, Pau</au><au>Samaranch, LLuis</au><au>Mata, Ignacio F.</au><au>Díaz, Marta</au><au>Moris, Germán</au><au>Menéndez, Manuel</au><au>Corao, Ana I.</au><au>Alvarez, Victoria</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Search for SNCA 3′ UTR Variants Identified SNP rs356165 as a Determinant of Disease Risk and Onset Age in Parkinson’s Disease</atitle><jtitle>Journal of molecular neuroscience</jtitle><stitle>J Mol Neurosci</stitle><addtitle>J Mol Neurosci</addtitle><date>2012-07-01</date><risdate>2012</risdate><volume>47</volume><issue>3</issue><spage>425</spage><epage>430</epage><pages>425-430</pages><issn>0895-8696</issn><eissn>1559-1166</eissn><abstract>Alpha-synuclein gene (
SNCA
) polymorphisms have been associated with the common sporadic form of Parkinson’s disease (PD). We searched for DNA variants at the
SNCA
3′ UTR through single strand conformation analysis and direct sequencing in a cohort of Spanish PD patients and controls. We have genotyped the rs356165
SNCA
3′ UTR polymorphism in a total of 1,135 PD patients and 772 healthy controls from two Spanish cohorts (Asturias and Navarre). We identified six
SNCA
3′ UTR variants. Single nucleotide polymorphism (SNP) rs356165 was significantly associated with PD risk in the Spanish cohort (
p
= 0.0001; odd ratio = 1.37, 95%CI = 1.19–1.58). This SNP was also significantly associated with early age at onset of PD. Our work highlights rs356165 as an important determinant of the risk of developing PD and early age at onset and encourages future research to identify a functional effect on
SNCA
expression.</abstract><cop>New York</cop><pub>Humana Press Inc</pub><pmid>22076805</pmid><doi>10.1007/s12031-011-9669-1</doi><tpages>6</tpages></addata></record> |
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| subjects | 3' Untranslated Regions - genetics Adult Age Age of Onset Aged alpha-Synuclein - genetics Biomedical and Life Sciences Biomedicine Cell Biology Chi-square test Conformation DNA sequencing Family medical history Female Gene polymorphism Genetic Predisposition to Disease - epidemiology Genetic Predisposition to Disease - genetics Genetic Variation - genetics Health risk assessment Humans Male Middle Aged Movement disorders Mutation Nervous system Neurochemistry Neurodegenerative diseases Neurology Neurosciences Parkinson Disease - epidemiology Parkinson Disease - genetics Parkinson's disease Polymorphism Polymorphism, Single Nucleotide - genetics Proteomics Risk Factors Single-nucleotide polymorphism Spain - epidemiology Synuclein |
| title | A Search for SNCA 3′ UTR Variants Identified SNP rs356165 as a Determinant of Disease Risk and Onset Age in Parkinson’s Disease |
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