Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium
ABSTRACT Background Variants within the leucine‐rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine‐rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late‐onset spor...
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| Veröffentlicht in: | Movement disorders 2013-10, Vol.28 (12), p.1740-1744 |
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| creator | Heckman, Michael G. Soto-Ortolaza, Alexandra I. Aasly, Jan O. Abahuni, Nadine Annesi, Grazia Bacon, Justin A. Bardien, Soraya Bozi, Maria Brice, Alexis Brighina, Laura Carr, Jonathan Chartier-Harlin, Marie-Christine Dardiotis, Efthimios Dickson, Dennis W. Diehl, Nancy N. Elbaz, Alexis Ferrarese, Carlo Fiske, Brian Gibson, J. Mark Gibson, Rachel Hadjigeorgiou, Georgios M. Hattori, Nobutaka Ioannidis, John P.A. Boczarska-Jedynak, Magdalena Jasinska-Myga, Barbara Jeon, Beom S. Kim, Yun Joong Klein, Christine Kruger, Rejko Kyratzi, Elli Lesage, Suzanne Lin, Chin-Hsien Lynch, Timothy Maraganore, Demetrius M. Mellick, George D. Mutez, Eugénie Nilsson, Christer Opala, Grzegorz Park, Sung Sup Petrucci, Simona Puschmann, Andreas Quattrone, Aldo Sharma, Manu Silburn, Peter A. Sohn, Young Ho Stefanis, Leonidas Tadic, Vera Theuns, Jessie Tomiyama, Hiroyuki Uitti, Ryan J. Valente, Enza Maria Van Broeckhoven, Christine van de Loo, Simone Vassilatis, Demetrios K. Vilariño-Güell, Carles White, Linda R. Wirdefeldt, Karin Wszolek, Zbigniew K. Wu, Ruey-Meei Hentati, Faycal Farrer, Matthew J. Ross, Owen A. |
| description | ABSTRACT
Background
Variants within the leucine‐rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine‐rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late‐onset sporadic disorders like Parkinson's disease.
Methods
The Genetic Epidemiology of Parkinson's Disease Consortium recently performed the largest genetic association study for variants in the leucine‐rich repeat kinase 2 gene across 23 different sites in 15 countries.
Results
Herein, we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K‐R1398H‐K1423K) nominated in the original publication. Simple population allele frequencies not only can provide insight into the clinical relevance of specific variants but also can help genetically define patient groups.
Conclusions
Establishing individual patient‐based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies. © 2013 International Parkinson and Movement Disorder Society |
| doi_str_mv | 10.1002/mds.25600 |
| format | Article |
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Background
Variants within the leucine‐rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine‐rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late‐onset sporadic disorders like Parkinson's disease.
Methods
The Genetic Epidemiology of Parkinson's Disease Consortium recently performed the largest genetic association study for variants in the leucine‐rich repeat kinase 2 gene across 23 different sites in 15 countries.
Results
Herein, we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K‐R1398H‐K1423K) nominated in the original publication. Simple population allele frequencies not only can provide insight into the clinical relevance of specific variants but also can help genetically define patient groups.
Conclusions
Establishing individual patient‐based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies. © 2013 International Parkinson and Movement Disorder Society</description><identifier>ISSN: 0885-3185</identifier><identifier>EISSN: 1531-8257</identifier><identifier>DOI: 10.1002/mds.25600</identifier><identifier>PMID: 23913756</identifier><identifier>CODEN: MOVDEA</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>association study ; Clinical Medicine ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; genetics ; Genetics, Population ; Genotype ; Haplotypes ; Humans ; Klinisk medicin ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ; LRRK2 ; Medical and Health Sciences ; Medicin och hälsovetenskap ; Molecular Epidemiology ; Movement disorders ; Neurologi ; Neurology ; Parkinson Disease - epidemiology ; Parkinson Disease - genetics ; Parkinson's disease ; Polymorphism, Single Nucleotide ; Protein-Serine-Threonine Kinases - genetics</subject><ispartof>Movement disorders, 2013-10, Vol.28 (12), p.1740-1744</ispartof><rights>2013 Movement Disorder Society</rights><rights>2013 Movement Disorder Society.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c6540-70eef0e3d13946119664fc2f7d5bb582fc76acd6f4d6bbfee4eebd4cdc27f8d93</citedby><cites>FETCH-LOGICAL-c6540-70eef0e3d13946119664fc2f7d5bb582fc76acd6f4d6bbfee4eebd4cdc27f8d93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fmds.25600$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmds.25600$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,550,776,780,881,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23913756$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://lup.lub.lu.se/record/4212906$$DView record from Swedish Publication Index$$Hfree_for_read</backlink><backlink>$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:127643089$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>Heckman, Michael G.</creatorcontrib><creatorcontrib>Soto-Ortolaza, Alexandra I.</creatorcontrib><creatorcontrib>Aasly, Jan O.</creatorcontrib><creatorcontrib>Abahuni, Nadine</creatorcontrib><creatorcontrib>Annesi, Grazia</creatorcontrib><creatorcontrib>Bacon, Justin A.</creatorcontrib><creatorcontrib>Bardien, Soraya</creatorcontrib><creatorcontrib>Bozi, Maria</creatorcontrib><creatorcontrib>Brice, Alexis</creatorcontrib><creatorcontrib>Brighina, Laura</creatorcontrib><creatorcontrib>Carr, Jonathan</creatorcontrib><creatorcontrib>Chartier-Harlin, Marie-Christine</creatorcontrib><creatorcontrib>Dardiotis, Efthimios</creatorcontrib><creatorcontrib>Dickson, Dennis W.</creatorcontrib><creatorcontrib>Diehl, Nancy N.</creatorcontrib><creatorcontrib>Elbaz, Alexis</creatorcontrib><creatorcontrib>Ferrarese, Carlo</creatorcontrib><creatorcontrib>Fiske, Brian</creatorcontrib><creatorcontrib>Gibson, J. Mark</creatorcontrib><creatorcontrib>Gibson, Rachel</creatorcontrib><creatorcontrib>Hadjigeorgiou, Georgios M.</creatorcontrib><creatorcontrib>Hattori, Nobutaka</creatorcontrib><creatorcontrib>Ioannidis, John P.A.</creatorcontrib><creatorcontrib>Boczarska-Jedynak, Magdalena</creatorcontrib><creatorcontrib>Jasinska-Myga, Barbara</creatorcontrib><creatorcontrib>Jeon, Beom S.</creatorcontrib><creatorcontrib>Kim, Yun Joong</creatorcontrib><creatorcontrib>Klein, Christine</creatorcontrib><creatorcontrib>Kruger, Rejko</creatorcontrib><creatorcontrib>Kyratzi, Elli</creatorcontrib><creatorcontrib>Lesage, Suzanne</creatorcontrib><creatorcontrib>Lin, Chin-Hsien</creatorcontrib><creatorcontrib>Lynch, Timothy</creatorcontrib><creatorcontrib>Maraganore, Demetrius M.</creatorcontrib><creatorcontrib>Mellick, George D.</creatorcontrib><creatorcontrib>Mutez, Eugénie</creatorcontrib><creatorcontrib>Nilsson, Christer</creatorcontrib><creatorcontrib>Opala, Grzegorz</creatorcontrib><creatorcontrib>Park, Sung Sup</creatorcontrib><creatorcontrib>Petrucci, Simona</creatorcontrib><creatorcontrib>Puschmann, Andreas</creatorcontrib><creatorcontrib>Quattrone, Aldo</creatorcontrib><creatorcontrib>Sharma, Manu</creatorcontrib><creatorcontrib>Silburn, Peter A.</creatorcontrib><creatorcontrib>Sohn, Young Ho</creatorcontrib><creatorcontrib>Stefanis, Leonidas</creatorcontrib><creatorcontrib>Tadic, Vera</creatorcontrib><creatorcontrib>Theuns, Jessie</creatorcontrib><creatorcontrib>Tomiyama, Hiroyuki</creatorcontrib><creatorcontrib>Uitti, Ryan J.</creatorcontrib><creatorcontrib>Valente, Enza Maria</creatorcontrib><creatorcontrib>Van Broeckhoven, Christine</creatorcontrib><creatorcontrib>van de Loo, Simone</creatorcontrib><creatorcontrib>Vassilatis, Demetrios K.</creatorcontrib><creatorcontrib>Vilariño-Güell, Carles</creatorcontrib><creatorcontrib>White, Linda R.</creatorcontrib><creatorcontrib>Wirdefeldt, Karin</creatorcontrib><creatorcontrib>Wszolek, Zbigniew K.</creatorcontrib><creatorcontrib>Wu, Ruey-Meei</creatorcontrib><creatorcontrib>Hentati, Faycal</creatorcontrib><creatorcontrib>Farrer, Matthew J.</creatorcontrib><creatorcontrib>Ross, Owen A.</creatorcontrib><creatorcontrib>Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium</creatorcontrib><creatorcontrib>on behalf of the Genetic Epidemiology of Parkinson's Disease (GEO‐PD) Consortium</creatorcontrib><title>Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium</title><title>Movement disorders</title><addtitle>Mov Disord</addtitle><description>ABSTRACT
Background
Variants within the leucine‐rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine‐rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late‐onset sporadic disorders like Parkinson's disease.
Methods
The Genetic Epidemiology of Parkinson's Disease Consortium recently performed the largest genetic association study for variants in the leucine‐rich repeat kinase 2 gene across 23 different sites in 15 countries.
Results
Herein, we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K‐R1398H‐K1423K) nominated in the original publication. Simple population allele frequencies not only can provide insight into the clinical relevance of specific variants but also can help genetically define patient groups.
Conclusions
Establishing individual patient‐based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies. © 2013 International Parkinson and Movement Disorder Society</description><subject>association study</subject><subject>Clinical Medicine</subject><subject>Gene Frequency</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease</subject><subject>genetics</subject><subject>Genetics, Population</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Klinisk medicin</subject><subject>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</subject><subject>LRRK2</subject><subject>Medical and Health Sciences</subject><subject>Medicin och hälsovetenskap</subject><subject>Molecular Epidemiology</subject><subject>Movement disorders</subject><subject>Neurologi</subject><subject>Neurology</subject><subject>Parkinson Disease - epidemiology</subject><subject>Parkinson Disease - genetics</subject><subject>Parkinson's disease</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Protein-Serine-Threonine Kinases - genetics</subject><issn>0885-3185</issn><issn>1531-8257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>D8T</sourceid><recordid>eNp1kl1PFDEUhidGI4he-AdMEy-Ei4F2pu10bkjMgvixwgY1XDb9OF0Ks9NxOgPuP_Bn23UXIiZcNG3a5zw56Xmz7DXB-wTj4mBh437BOMZPsm3CSpKLglVPs20sBMtLIthW9iLGK4wJYYQ_z7aKsiZlxfh29nsWurFRgw9tHjsw3nmDXA8_R2iNh4hc6NH0_PxLgeIYDXSD177xwxLdqN6rdojIt2i4BDSHFoZUDJ23sPChCfMlCg7NVH_t2xjadxFZH0FFQLsnx2f57GgPmZBe-sGPi5fZM6eaCK82-07248Px98nHfHp28mnyfpobzijOKwzgMJSWlDXlhNScU2cKV1mmNROFMxVXxnJHLdfaAVAAbamxpqicsHW5k-Vrb7yFbtSy6_1C9UsZlJebq-t0AsmKqqpF4qeP8s3YpaXTWhXokmqurZJCiFpSYEQKXGqpqcNKCQ0lsUl3uNYl1wKsgXboVfPA-vCl9ZdyHm4kJVgQxpJgdyPoQxpSHOTCp7k0jWohjFESSiuCGWU4oW__Q6_C2Lfpd1cUrQUnYvUhe2vK9CHGHtx9MwTLVbxkipf8G6_Evvm3-3vyLk8JOFgDt76B5eMm-fXo251yMw8fB_h1X5FCI3mVnPLi9ESSi2kxIaefJS7_AK2I7Og</recordid><startdate>201310</startdate><enddate>201310</enddate><creator>Heckman, Michael G.</creator><creator>Soto-Ortolaza, Alexandra I.</creator><creator>Aasly, Jan O.</creator><creator>Abahuni, Nadine</creator><creator>Annesi, Grazia</creator><creator>Bacon, Justin A.</creator><creator>Bardien, Soraya</creator><creator>Bozi, Maria</creator><creator>Brice, Alexis</creator><creator>Brighina, Laura</creator><creator>Carr, Jonathan</creator><creator>Chartier-Harlin, Marie-Christine</creator><creator>Dardiotis, Efthimios</creator><creator>Dickson, Dennis W.</creator><creator>Diehl, Nancy N.</creator><creator>Elbaz, Alexis</creator><creator>Ferrarese, Carlo</creator><creator>Fiske, Brian</creator><creator>Gibson, J. Mark</creator><creator>Gibson, Rachel</creator><creator>Hadjigeorgiou, Georgios M.</creator><creator>Hattori, Nobutaka</creator><creator>Ioannidis, John P.A.</creator><creator>Boczarska-Jedynak, Magdalena</creator><creator>Jasinska-Myga, Barbara</creator><creator>Jeon, Beom S.</creator><creator>Kim, Yun Joong</creator><creator>Klein, Christine</creator><creator>Kruger, Rejko</creator><creator>Kyratzi, Elli</creator><creator>Lesage, Suzanne</creator><creator>Lin, Chin-Hsien</creator><creator>Lynch, Timothy</creator><creator>Maraganore, Demetrius M.</creator><creator>Mellick, George D.</creator><creator>Mutez, Eugénie</creator><creator>Nilsson, Christer</creator><creator>Opala, Grzegorz</creator><creator>Park, Sung Sup</creator><creator>Petrucci, Simona</creator><creator>Puschmann, Andreas</creator><creator>Quattrone, Aldo</creator><creator>Sharma, Manu</creator><creator>Silburn, Peter A.</creator><creator>Sohn, Young Ho</creator><creator>Stefanis, Leonidas</creator><creator>Tadic, Vera</creator><creator>Theuns, Jessie</creator><creator>Tomiyama, Hiroyuki</creator><creator>Uitti, Ryan J.</creator><creator>Valente, Enza Maria</creator><creator>Van Broeckhoven, Christine</creator><creator>van de Loo, Simone</creator><creator>Vassilatis, Demetrios K.</creator><creator>Vilariño-Güell, Carles</creator><creator>White, Linda R.</creator><creator>Wirdefeldt, Karin</creator><creator>Wszolek, Zbigniew K.</creator><creator>Wu, Ruey-Meei</creator><creator>Hentati, Faycal</creator><creator>Farrer, Matthew J.</creator><creator>Ross, Owen A.</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><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>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>ADTPV</scope><scope>AOWAS</scope><scope>D95</scope><scope>D8T</scope><scope>ZZAVC</scope></search><sort><creationdate>201310</creationdate><title>Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium</title><author>Heckman, Michael G. ; Soto-Ortolaza, Alexandra I. ; Aasly, Jan O. ; Abahuni, Nadine ; Annesi, Grazia ; Bacon, Justin A. ; Bardien, Soraya ; Bozi, Maria ; Brice, Alexis ; Brighina, Laura ; Carr, Jonathan ; Chartier-Harlin, Marie-Christine ; Dardiotis, Efthimios ; Dickson, Dennis W. ; Diehl, Nancy N. ; Elbaz, Alexis ; Ferrarese, Carlo ; Fiske, Brian ; Gibson, J. Mark ; Gibson, Rachel ; Hadjigeorgiou, Georgios M. ; Hattori, Nobutaka ; Ioannidis, John P.A. ; Boczarska-Jedynak, Magdalena ; Jasinska-Myga, Barbara ; Jeon, Beom S. ; Kim, Yun Joong ; Klein, Christine ; Kruger, Rejko ; Kyratzi, Elli ; Lesage, Suzanne ; Lin, Chin-Hsien ; Lynch, Timothy ; Maraganore, Demetrius M. ; Mellick, George D. ; Mutez, Eugénie ; Nilsson, Christer ; Opala, Grzegorz ; Park, Sung Sup ; Petrucci, Simona ; Puschmann, Andreas ; Quattrone, Aldo ; Sharma, Manu ; Silburn, Peter A. ; Sohn, Young Ho ; Stefanis, Leonidas ; Tadic, Vera ; Theuns, Jessie ; Tomiyama, Hiroyuki ; Uitti, Ryan J. ; Valente, Enza Maria ; Van Broeckhoven, Christine ; van de Loo, Simone ; Vassilatis, Demetrios K. ; Vilariño-Güell, Carles ; White, Linda R. ; Wirdefeldt, Karin ; Wszolek, Zbigniew K. ; Wu, Ruey-Meei ; Hentati, Faycal ; Farrer, Matthew J. ; Ross, Owen A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c6540-70eef0e3d13946119664fc2f7d5bb582fc76acd6f4d6bbfee4eebd4cdc27f8d93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>association study</topic><topic>Clinical Medicine</topic><topic>Gene Frequency</topic><topic>Genetic Association Studies</topic><topic>Genetic Predisposition to Disease</topic><topic>genetics</topic><topic>Genetics, Population</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Klinisk medicin</topic><topic>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</topic><topic>LRRK2</topic><topic>Medical and Health Sciences</topic><topic>Medicin och hälsovetenskap</topic><topic>Molecular Epidemiology</topic><topic>Movement disorders</topic><topic>Neurologi</topic><topic>Neurology</topic><topic>Parkinson Disease - epidemiology</topic><topic>Parkinson Disease - genetics</topic><topic>Parkinson's disease</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Protein-Serine-Threonine Kinases - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Heckman, Michael G.</creatorcontrib><creatorcontrib>Soto-Ortolaza, Alexandra I.</creatorcontrib><creatorcontrib>Aasly, Jan O.</creatorcontrib><creatorcontrib>Abahuni, Nadine</creatorcontrib><creatorcontrib>Annesi, Grazia</creatorcontrib><creatorcontrib>Bacon, Justin A.</creatorcontrib><creatorcontrib>Bardien, Soraya</creatorcontrib><creatorcontrib>Bozi, Maria</creatorcontrib><creatorcontrib>Brice, Alexis</creatorcontrib><creatorcontrib>Brighina, Laura</creatorcontrib><creatorcontrib>Carr, Jonathan</creatorcontrib><creatorcontrib>Chartier-Harlin, Marie-Christine</creatorcontrib><creatorcontrib>Dardiotis, Efthimios</creatorcontrib><creatorcontrib>Dickson, Dennis W.</creatorcontrib><creatorcontrib>Diehl, Nancy N.</creatorcontrib><creatorcontrib>Elbaz, Alexis</creatorcontrib><creatorcontrib>Ferrarese, Carlo</creatorcontrib><creatorcontrib>Fiske, Brian</creatorcontrib><creatorcontrib>Gibson, J. Mark</creatorcontrib><creatorcontrib>Gibson, Rachel</creatorcontrib><creatorcontrib>Hadjigeorgiou, Georgios M.</creatorcontrib><creatorcontrib>Hattori, Nobutaka</creatorcontrib><creatorcontrib>Ioannidis, John P.A.</creatorcontrib><creatorcontrib>Boczarska-Jedynak, Magdalena</creatorcontrib><creatorcontrib>Jasinska-Myga, Barbara</creatorcontrib><creatorcontrib>Jeon, Beom S.</creatorcontrib><creatorcontrib>Kim, Yun Joong</creatorcontrib><creatorcontrib>Klein, Christine</creatorcontrib><creatorcontrib>Kruger, Rejko</creatorcontrib><creatorcontrib>Kyratzi, Elli</creatorcontrib><creatorcontrib>Lesage, Suzanne</creatorcontrib><creatorcontrib>Lin, Chin-Hsien</creatorcontrib><creatorcontrib>Lynch, Timothy</creatorcontrib><creatorcontrib>Maraganore, Demetrius M.</creatorcontrib><creatorcontrib>Mellick, George D.</creatorcontrib><creatorcontrib>Mutez, Eugénie</creatorcontrib><creatorcontrib>Nilsson, Christer</creatorcontrib><creatorcontrib>Opala, Grzegorz</creatorcontrib><creatorcontrib>Park, Sung Sup</creatorcontrib><creatorcontrib>Petrucci, Simona</creatorcontrib><creatorcontrib>Puschmann, Andreas</creatorcontrib><creatorcontrib>Quattrone, Aldo</creatorcontrib><creatorcontrib>Sharma, Manu</creatorcontrib><creatorcontrib>Silburn, Peter A.</creatorcontrib><creatorcontrib>Sohn, Young Ho</creatorcontrib><creatorcontrib>Stefanis, Leonidas</creatorcontrib><creatorcontrib>Tadic, Vera</creatorcontrib><creatorcontrib>Theuns, Jessie</creatorcontrib><creatorcontrib>Tomiyama, Hiroyuki</creatorcontrib><creatorcontrib>Uitti, Ryan J.</creatorcontrib><creatorcontrib>Valente, Enza Maria</creatorcontrib><creatorcontrib>Van Broeckhoven, Christine</creatorcontrib><creatorcontrib>van de Loo, Simone</creatorcontrib><creatorcontrib>Vassilatis, Demetrios K.</creatorcontrib><creatorcontrib>Vilariño-Güell, Carles</creatorcontrib><creatorcontrib>White, Linda R.</creatorcontrib><creatorcontrib>Wirdefeldt, Karin</creatorcontrib><creatorcontrib>Wszolek, Zbigniew K.</creatorcontrib><creatorcontrib>Wu, Ruey-Meei</creatorcontrib><creatorcontrib>Hentati, Faycal</creatorcontrib><creatorcontrib>Farrer, Matthew J.</creatorcontrib><creatorcontrib>Ross, Owen A.</creatorcontrib><creatorcontrib>Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium</creatorcontrib><creatorcontrib>on behalf of the Genetic Epidemiology of Parkinson's Disease (GEO‐PD) Consortium</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>SwePub</collection><collection>SwePub Articles</collection><collection>SWEPUB Lunds universitet</collection><collection>SWEPUB Freely available online</collection><collection>SwePub Articles full text</collection><jtitle>Movement disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Heckman, Michael G.</au><au>Soto-Ortolaza, Alexandra I.</au><au>Aasly, Jan O.</au><au>Abahuni, Nadine</au><au>Annesi, Grazia</au><au>Bacon, Justin A.</au><au>Bardien, Soraya</au><au>Bozi, Maria</au><au>Brice, Alexis</au><au>Brighina, Laura</au><au>Carr, Jonathan</au><au>Chartier-Harlin, Marie-Christine</au><au>Dardiotis, Efthimios</au><au>Dickson, Dennis W.</au><au>Diehl, Nancy N.</au><au>Elbaz, Alexis</au><au>Ferrarese, Carlo</au><au>Fiske, Brian</au><au>Gibson, J. Mark</au><au>Gibson, Rachel</au><au>Hadjigeorgiou, Georgios M.</au><au>Hattori, Nobutaka</au><au>Ioannidis, John P.A.</au><au>Boczarska-Jedynak, Magdalena</au><au>Jasinska-Myga, Barbara</au><au>Jeon, Beom S.</au><au>Kim, Yun Joong</au><au>Klein, Christine</au><au>Kruger, Rejko</au><au>Kyratzi, Elli</au><au>Lesage, Suzanne</au><au>Lin, Chin-Hsien</au><au>Lynch, Timothy</au><au>Maraganore, Demetrius M.</au><au>Mellick, George D.</au><au>Mutez, Eugénie</au><au>Nilsson, Christer</au><au>Opala, Grzegorz</au><au>Park, Sung Sup</au><au>Petrucci, Simona</au><au>Puschmann, Andreas</au><au>Quattrone, Aldo</au><au>Sharma, Manu</au><au>Silburn, Peter A.</au><au>Sohn, Young Ho</au><au>Stefanis, Leonidas</au><au>Tadic, Vera</au><au>Theuns, Jessie</au><au>Tomiyama, Hiroyuki</au><au>Uitti, Ryan J.</au><au>Valente, Enza Maria</au><au>Van Broeckhoven, Christine</au><au>van de Loo, Simone</au><au>Vassilatis, Demetrios K.</au><au>Vilariño-Güell, Carles</au><au>White, Linda R.</au><au>Wirdefeldt, Karin</au><au>Wszolek, Zbigniew K.</au><au>Wu, Ruey-Meei</au><au>Hentati, Faycal</au><au>Farrer, Matthew J.</au><au>Ross, Owen A.</au><aucorp>Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium</aucorp><aucorp>on behalf of the Genetic Epidemiology of Parkinson's Disease (GEO‐PD) Consortium</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium</atitle><jtitle>Movement disorders</jtitle><addtitle>Mov Disord</addtitle><date>2013-10</date><risdate>2013</risdate><volume>28</volume><issue>12</issue><spage>1740</spage><epage>1744</epage><pages>1740-1744</pages><issn>0885-3185</issn><eissn>1531-8257</eissn><coden>MOVDEA</coden><abstract>ABSTRACT
Background
Variants within the leucine‐rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine‐rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late‐onset sporadic disorders like Parkinson's disease.
Methods
The Genetic Epidemiology of Parkinson's Disease Consortium recently performed the largest genetic association study for variants in the leucine‐rich repeat kinase 2 gene across 23 different sites in 15 countries.
Results
Herein, we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K‐R1398H‐K1423K) nominated in the original publication. Simple population allele frequencies not only can provide insight into the clinical relevance of specific variants but also can help genetically define patient groups.
Conclusions
Establishing individual patient‐based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies. © 2013 International Parkinson and Movement Disorder Society</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>23913756</pmid><doi>10.1002/mds.25600</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0885-3185 |
| ispartof | Movement disorders, 2013-10, Vol.28 (12), p.1740-1744 |
| issn | 0885-3185 1531-8257 |
| language | eng |
| recordid | cdi_swepub_primary_oai_swepub_ki_se_527798 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; SWEPUB Freely available online |
| subjects | association study Clinical Medicine Gene Frequency Genetic Association Studies Genetic Predisposition to Disease genetics Genetics, Population Genotype Haplotypes Humans Klinisk medicin Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 LRRK2 Medical and Health Sciences Medicin och hälsovetenskap Molecular Epidemiology Movement disorders Neurologi Neurology Parkinson Disease - epidemiology Parkinson Disease - genetics Parkinson's disease Polymorphism, Single Nucleotide Protein-Serine-Threonine Kinases - genetics |
| title | Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-09T08%3A45%3A54IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_swepu&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Population-specific%20frequencies%20for%20LRRK2%20susceptibility%20variants%20in%20the%20genetic%20epidemiology%20of%20Parkinson's%20disease%20(GEO-PD)%20consortium&rft.jtitle=Movement%20disorders&rft.au=Heckman,%20Michael%20G.&rft.aucorp=Genetic%20Epidemiology%20of%20Parkinson's%20Disease%20(GEO-PD)%20Consortium&rft.date=2013-10&rft.volume=28&rft.issue=12&rft.spage=1740&rft.epage=1744&rft.pages=1740-1744&rft.issn=0885-3185&rft.eissn=1531-8257&rft.coden=MOVDEA&rft_id=info:doi/10.1002/mds.25600&rft_dat=%3Cproquest_swepu%3E3108807531%3C/proquest_swepu%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1444986189&rft_id=info:pmid/23913756&rfr_iscdi=true |