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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00006794naa a2201021 4500
001oai:lup.lub.lu.se:fbe2089e-e2b7-4665-b777-55c99e6906d6
003SwePub
008160401s2011 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:123395582
0247 a https://lup.lub.lu.se/record/22117072 URI
0247 a https://doi.org/10.1016/S1474-4422(11)70175-22 DOI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1233955822 URI
040 a (SwePub)lud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Ross, Owen A.4 aut
2451 0a Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
264 1c 2011
520 a Background The leucine-rich repeat kinase 2 gene (LRRK2) harbours highly penetrant mutations that are linked to familial parkinsonism. However, the extent of its polymorphic variability in relation to risk of Parkinson's disease (PD) has not been assessed systematically. We therefore assessed the frequency of LRRK2 exonic variants in individuals with and without PD, to investigate the role of the variants in PD susceptibility. Methods LRRK2 was genotyped in patients with PD and controls from three series (white, Asian, and Arab-Berber) from sites participating in the Genetic Epidemiology of Parkinson's Disease Consortium. Genotyping was done for exonic variants of LRRK2 that were identified through searches of literature and the personal communications of consortium members. Associations with PD were assessed by use of logistic regression models. For variants that had a minor allele frequency of 0.5% or greater, single variant associations were assessed, whereas for rarer variants information was collapsed across variants. Findings 121 exonic LRRK2 variants were assessed in 15 540 individuals: 6995 white patients with PD and 5595 controls, 1376 Asian patients and 962 controls, and 240 Arab-Berber patients and 372 controls. After exclusion of carriers of known pathogenic mutations, new independent risk associations were identified for polymorphic variants in white individuals (M1646T, odds ratio 1.43, 95% CI 1.15-1.78; p=0.0012) and Asian individuals (A419V, 2.27, 1.35-3.83; p=0.0011). A protective haplotype (N551K-R1398H-K1423K) was noted at a frequency greater than 5% in the white and Asian series, with a similar finding in the Arab-Berber series (combined odds ratio 0.82, 0.72-0.94; p=0.0043). Of the two previously reported Asian risk variants, G2385R was associated with disease (1.73, 1.20-2.49; p=0.0026), but no association was noted for R1628P (0.62, 0.36-1.07; p=0.087). In the Arab-Berber series, Y2189C showed potential evidence of risk association with PD (4.48, 133-15.09; p=0.012). Interpretation The results for LRRK2 show that several rare and common genetic variants in the same gene can have independent effects on disease risk. LRRK2, and the pathway in which it functions, is important in the cause and pathogenesis of PD in a greater proportion of patients with this disease than previously believed. These results will help discriminate those patients who will benefit most from therapies targeted at LRRK2 pathogenic activity. Funding Michael J Fox Foundation and National Institutes of Health.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
7001 a Soto-Ortolaza, Alexandra I.4 aut
7001 a Heckman, Michael G.4 aut
7001 a Aasly, Jan O.4 aut
7001 a Abahuni, Nadine4 aut
7001 a Annesi, Grazia4 aut
7001 a Bacon, Justin A.4 aut
7001 a Bardien, Soraya4 aut
7001 a Bozi, Maria4 aut
7001 a Brice, Alexis4 aut
7001 a Brighina, Laura4 aut
7001 a Van Broeckhoven, Christine4 aut
7001 a Carr, Jonathan4 aut
7001 a Chartier-Harlin, Marie-Christine4 aut
7001 a Dardiotis, Efthimios4 aut
7001 a Dickson, Dennis W.4 aut
7001 a Diehl, Nancy N.4 aut
7001 a Elbaz, Alexis4 aut
7001 a Ferrarese, Carlo4 aut
7001 a Ferraris, Alessandro4 aut
7001 a Fiske, Brian4 aut
7001 a Gibson, J. Mark4 aut
7001 a Gibson, Rachel4 aut
7001 a Hadjigeorgiou, Georgios M.4 aut
7001 a Hattori, Nobutaka4 aut
7001 a Ioannidis, John P. A.4 aut
7001 a Jasinska-Myga, Barbara4 aut
7001 a Jeon, Beom S.4 aut
7001 a Kim, Yun Joong4 aut
7001 a Klein, Christine4 aut
7001 a Kruger, Rejko4 aut
7001 a Kyratzi, Elli4 aut
7001 a Lesage, Suzanne4 aut
7001 a Lin, Chin-Hsien4 aut
7001 a Lynch, Timothy4 aut
7001 a Maraganore, Demetrius M.4 aut
7001 a Mellick, George D.4 aut
7001 a Mutez, Eugenie4 aut
7001 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
7001 a Opala, Grzegorz4 aut
7001 a Park, Sung Sup4 aut
7001 a Puschmann, Andreasu Lund University,Lunds universitet,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Clinical Neurogenetics,Lund University Research Groups4 aut0 (Swepub:lu)med-aps
7001 a Quattrone, Aldo4 aut
7001 a Sharma, Manu4 aut
7001 a Silburn, Peter A.4 aut
7001 a Sohn, Young Ho4 aut
7001 a Stefanis, Leonidas4 aut
7001 a Tadic, Vera4 aut
7001 a Theuns, Jessie4 aut
7001 a Tomiyama, Hiroyuki4 aut
7001 a Uitti, Ryan J.4 aut
7001 a Valente, Enza Maria4 aut
7001 a van de Loo, Simone4 aut
7001 a Vassilatis, Demetrios K.4 aut
7001 a Vilarino-Gueell, Cartes4 aut
7001 a White, Linda R.4 aut
7001 a Wirdefeldt, Karinu Karolinska Institutet4 aut
7001 a Wszolek, Zbigniew K.4 aut
7001 a Wu, Ruey-Meei4 aut
7001 a Farrer, Matthew J.4 aut
7102 a Psykiatri, Lundb Sektion IV4 org
7730 t Lancet Neurologyg 10:10, s. 898-908q 10:10<898-908x 1474-4465
8564 u http://dx.doi.org/10.1016/S1474-4422(11)70175-2y FULLTEXT
8564 8u https://lup.lub.lu.se/record/2211707
8564 8u https://doi.org/10.1016/S1474-4422(11)70175-2
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:123395582

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