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Numrering	Referens	Omslagsbild	Hitta
1.	Lorenzo-Betancor, O, et al. (författare) DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients. 2015 Ingår i: European Journal of Neurology. - : Wiley. - 1351-5101. ; 22:9, s. 1323-1325 Tidskriftsartikel (refereegranskat)abstract Recently, a novel mutation in exon 24 of DNAJC13 gene (p.Asn855Ser, rs387907571) has been reported to cause autosomal dominant Parkinson's disease (PD) in a multi-incident Mennonite family.
2.	Sharma, M, et al. (författare) A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants 2012 Ingår i: Journal of medical genetics. - : BMJ. - 1468-6244 .- 0022-2593. ; 49:11, s. 721-726 Tidskriftsartikel (refereegranskat)
3.	Soto-Ortolaza, A. I., et al. (författare) GWAS risk factors in Parkinson's disease : LRRK2 coding variation and genetic interaction with PARK16 2013 Ingår i: American Journal of Neurodegenerative Disease. - 2165-591X. ; 2:4, s. 99-287 Tidskriftsartikel (refereegranskat)abstract Parkinson's disease (PD) is a multifactorial movement disorder characterized by progressive neurodegeneration. Genome-wide association studies (GWAS) have nominated over fifteen distinct loci associated with risk of PD, however the biological mechanisms by which these loci influence disease risk are mostly unknown. GWAS are only the first step in the identification of disease genes: the specific causal variants responsible for the risk within the associated loci and the interactions between them must be identified to fully comprehend their impact on the development of PD. In the present study, we first attempted to replicate the association signals of 17 PD GWAS loci in our series of 1381 patients with PD and 1328 controls. BST1, SNCA, HLA-DRA, CCDC62/HIP1R and MAPT all showed a significant association with PD under different models of inheritance and LRRK2 showed a suggestive association. We then examined the role of coding LRRK2 variants in the GWAS association signal for that gene. The previously identified LRRK2 risk mutant p.M1646T and protective haplotype p.N551K-R1398H-K1423K did not explain the association signal of LRRK2 in our series. Finally, we investigated the gene-gene interaction between PARK16 and LRRK2 that has previously been proposed. We observed no interaction between PARK16 and LRRK2 GWAS variants, but did observe a non-significant trend toward interaction between PARK16 and LRRK2 variants within the protective haplotype. Identification of causal variants and the interactions between them is the crucial next step in making biological sense of the massive amount of data generated by GWAS studies. Future studies combining larger sample sizes will undoubtedly shed light on the complex molecular interplay leading to the development of PD.

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Resultat 1-3 av 3

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Typ av publikation: tidskriftsartikel (3)

Typ av innehåll: refereegranskat (3)

Författare/redaktör: Barcikowska, M (3)Ta bort avgränsningen; Opala, G (3); Lynch, T (3); Puschmann, Andreas (2); Wszolek, Z K (2); Ross, O A (2); visa fler...; Czyzewski, K (2); Zhao, Y. (1); Sharma, M. (1); Ioannidis, JPA (1); Wirdefeldt, K (1); Gasser, T. (1); Libioulle, C (1); Auburger, G (1); Van Broeckhoven, C (1); Stefanis, L (1); Lill, CM (1); Bertram, L (1); Kruger, R (1); Tomiyama, H (1); Lichtner, P (1); Rogaeva, E (1); Brice, A (1); Boczarska-Jedynak, M (1); Jamrozik, Z (1); Strom, TM (1); Gispert, S (1); Ross, OA (1); Murata, M (1); Silburn, PA (1); Mellick, GD (1); Quattrone, A (1); Lin, JJ (1); Lang, AE (1); Lesage, S (1); Xiromerisiou, G. (1); Hicks, AA (1); Pramstaller, PP (1); Farrer, M (1); Theuns, J. (1); Zimprich, A (1); Hadjigeorgiou, GM (1); Annesi, G (1); Hattori, N (1); Clarke, CE (1); Morrison, KE (1); Wszolek, Z. (1); Pichler, I (1); McCarthy, A (1); Farrer, M J (1); visa färre...

Lärosäte: Lunds universitet (2); Karolinska Institutet (1)

Språk: Engelska (3)

Forskningsämne (UKÄ/SCB): Medicin och hälsovetenskap (2)

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