Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

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Fältnamn	Indikatorer	Metadata
000		06034naa a2201153 4500
001		oai:lup.lub.lu.se:b34b6bda-8889-4e51-803b-b4f0aa8be31d
003		SwePub
008		160401s2013 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:127643089
024	7	a https://lup.lub.lu.se/record/42129062 URI
024	7	a https://doi.org/10.1002/mds.256002 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1276430892 URI
040		a (SwePub)lud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Heckman, Michael G.4 aut
245	1 0	a Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
264		c 2013-08-02
264	1	b Wiley,c 2013
520		a BackgroundVariants 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. MethodsThe 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. ResultsHerein, 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. ConclusionsEstablishing individual patient-based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies. (c) 2013 International Parkinson and Movement Disorder Society
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653		a Parkinson's disease
653		a LRRK2
653		a genetics
653		a association study
700	1	a Soto-Ortolaza, Alexandra I.4 aut
700	1	a Aasly, Jan O.4 aut
700	1	a Abahuni, Nadine4 aut
700	1	a Annesi, Grazia4 aut
700	1	a Bacon, Justin A.4 aut
700	1	a Bardien, Soraya4 aut
700	1	a Bozi, Maria4 aut
700	1	a Brice, Alexis4 aut
700	1	a Brighina, Laura4 aut
700	1	a Carr, Jonathan4 aut
700	1	a Chartier-Harlin, Marie-Christine4 aut
700	1	a Dardiotis, Efthimios4 aut
700	1	a Dickson, Dennis W.4 aut
700	1	a Diehl, Nancy N.4 aut
700	1	a Elbaz, Alexis4 aut
700	1	a Ferrarese, Carlo4 aut
700	1	a Fiske, Brian4 aut
700	1	a Gibson, J. Mark4 aut
700	1	a Gibson, Rachel4 aut
700	1	a Hadjigeorgiou, Georgios M.4 aut
700	1	a Hattori, Nobutaka4 aut
700	1	a Ioannidis, John P. A.4 aut
700	1	a Boczarska-Jedynak, Magdalena4 aut
700	1	a Jasinska-Myga, Barbara4 aut
700	1	a Jeon, Beom S.4 aut
700	1	a Kim, Yun Joong4 aut
700	1	a Klein, Christine4 aut
700	1	a Kruger, Rejko4 aut
700	1	a Kyratzi, Elli4 aut
700	1	a Lesage, Suzanne4 aut
700	1	a Lin, Chin-Hsien4 aut
700	1	a Lynch, Timothy4 aut
700	1	a Maraganore, Demetrius M.4 aut
700	1	a Mellick, George D.4 aut
700	1	a Mutez, Eugenie4 aut
700	1	a Nilsson, Christeru Lund University,Lunds universitet,Psykiatri, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Psychiatry (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)neur-cni
700	1	a Opala, Grzegorz4 aut
700	1	a Park, Sung Sup4 aut
700	1	a Petrucci, Simona4 aut
700	1	a Puschmann, Andreasu Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)med-aps
700	1	a Quattrone, Aldo4 aut
700	1	a Sharma, Manu4 aut
700	1	a Silburn, Peter A.4 aut
700	1	a Sohn, Young Ho4 aut
700	1	a Stefanis, Leonidas4 aut
700	1	a Tadic, Vera4 aut
700	1	a Theuns, Jessie4 aut
700	1	a Tomiyama, Hiroyuki4 aut
700	1	a Uitti, Ryan J.4 aut
700	1	a Valente, Enza Maria4 aut
700	1	a Van Broeckhoven, Christine4 aut
700	1	a van de Loo, Simone4 aut
700	1	a Vassilatis, Demetrios K.4 aut
700	1	a Vilarino-Gueell, Carles4 aut
700	1	a White, Linda R.4 aut
700	1	a Wirdefeldt, Karinu Karolinska Institutet4 aut
700	1	a Wszolek, Zbigniew K.4 aut
700	1	a Wu, Ruey-Meei4 aut
700	1	a Hentati, Faycal4 aut
700	1	a Farrer, Matthew J.4 aut
700	1	a Ross, Owen A.4 aut
710	2	a Psykiatri, Lundb Sektion IV4 org
773	0	t Movement Disordersd : Wileyg 28:12, s. 1740-1744q 28:12<1740-1744x 0885-3185
773	0	t Movement disorders : official journal of the Movement Disorder Societyd : Wileyg 28:12, s. 1740-1744q 28:12<1740-1744x 1531-8257
856	4	u http://dx.doi.org/10.1002/mds.25600y FULLTEXT
856	4	u https://europepmc.org/articles/pmc4108155?pdf=render
856	4 8	u https://lup.lub.lu.se/record/4212906
856	4 8	u https://doi.org/10.1002/mds.25600
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:127643089

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Av författaren/redakt...: Heckman, Michael ...; Soto-Ortolaza, A ...; Aasly, Jan O.; Abahuni, Nadine; Annesi, Grazia; Bacon, Justin A.; visa fler...; Bardien, Soraya; Bozi, Maria; Brice, Alexis; Brighina, Laura; Carr, Jonathan; Chartier-Harlin, ...; Dardiotis, Efthi ...; Dickson, Dennis ...; Diehl, Nancy N.; Elbaz, Alexis; Ferrarese, Carlo; Fiske, Brian; Gibson, J. Mark; Gibson, Rachel; Hadjigeorgiou, G ...; Hattori, Nobutak ...; Ioannidis, John ...; Boczarska-Jedyna ...; Jasinska-Myga, B ...; Jeon, Beom S.; Kim, Yun Joong; Klein, Christine; Kruger, Rejko; Kyratzi, Elli; Lesage, Suzanne; Lin, Chin-Hsien; Lynch, Timothy; Maraganore, Deme ...; Mellick, George ...; Mutez, Eugenie; Nilsson, Christe ...; Opala, Grzegorz; Park, Sung Sup; Petrucci, Simona; Puschmann, Andre ...; Quattrone, Aldo; Sharma, Manu; Silburn, Peter A ...; Sohn, Young Ho; Stefanis, Leonid ...; Tadic, Vera; Theuns, Jessie; Tomiyama, Hiroyu ...; Uitti, Ryan J.; Valente, Enza Ma ...; Van Broeckhoven, ...; van de Loo, Simo ...; Vassilatis, Deme ...; Vilarino-Gueell, ...; White, Linda R.; Wirdefeldt, Kari ...; Wszolek, Zbignie ...; Wu, Ruey-Meei; Hentati, Faycal; Farrer, Matthew ...; Ross, Owen A.; visa färre...

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