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Sökning: onr:"swepub:oai:DiVA.org:uu-198612" > Genome-wide haploty...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 07073naa a2201393 4500 | |
| 001 | oai:DiVA.org:uu-198612 | |
| 003 | SwePub | |
| 008 | 130422s2013 | |||||||||||000 ||eng| | |
| 009 | oai:DiVA.org:su-89578 | |
| 009 | oai:prod.swepub.kib.ki.se:126412333 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1986122 URI |
| 024 | 7 | a https://doi.org/10.1038/mp.2012.142 DOI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-895782 URI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1264123332 URI |
| 040 | a (SwePub)uud (SwePub)sud (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Lambert, J-C4 aut |
| 245 | 1 0 | a Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease |
| 264 | c 2012-03-20 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2013 |
| 338 | a print2 rdacarrier | |
| 500 | a Correction in: Molecular Psychiatry (2013) 18, 521–521doi:10.1038/mp.2012.75 | |
| 500 | a AuthorCount:74; | |
| 520 | a Recently, several genome-wide association studies (GWASs) have led to the discovery of nine new loci of genetic susceptibility in Alzheimer's disease (AD). However, the landscape of the AD genetic susceptibility is far away to be complete and in addition to single-SNP (single-nucleotide polymorphism) analyses as performed in conventional GWAS, complementary strategies need to be applied to overcome limitations inherent to this type of approaches. We performed a genome-wide haplotype association (GWHA) study in the EADI1 study (n = 2025 AD cases and 5328 controls) by applying a sliding-windows approach. After exclusion of loci already known to be involved in AD (APOE, BIN1 and CR1), 91 regions with suggestive haplotype effects were identified. In a second step, we attempted to replicate the best suggestive haplotype associations in the GERAD1 consortium (2820 AD cases and 6356 controls) and observed that 9 of them showed nominal association. In a third step, we tested relevant haplotype associations in a combined analysis of five additional case-control studies (5093 AD cases and 4061 controls). We consistently replicated the association of a haplotype within FRMD4A on Chr.10p13 in all the data set analyzed (OR: 1.68; 95% CI: (1.43-1.96); P=1.1 x 10(-10)). We finally searched for association between SNPs within the FRMD4A locus and A beta plasma concentrations in three independent non-demented populations (n = 2579). We reported that polymorphisms were associated with plasma A beta 42/A beta 40 ratio (best signal, P=5.4 x 10(-7)). In conclusion, combining both GWHA study and a conservative three-stage replication approach, we characterised FRMD4A as a new genetic risk factor of AD. | |
| 650 | 7 | a NATURVETENSKAPx Biologix Biokemi och molekylärbiologi0 (SwePub)106022 hsv//swe |
| 650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Biochemistry and Molecular Biology0 (SwePub)106022 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Psykiatri0 (SwePub)302152 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Psychiatry0 (SwePub)302152 hsv//eng |
| 653 | a Alzheimer | |
| 653 | a amyloid | |
| 653 | a FRMD4A | |
| 653 | a GWAS | |
| 653 | a plasma | |
| 700 | 1 | a Grenier-Boley, B.4 aut |
| 700 | 1 | a Harold, D.4 aut |
| 700 | 1 | a Zelenika, D.4 aut |
| 700 | 1 | a Chouraki, V.4 aut |
| 700 | 1 | a Kamatani, Y.4 aut |
| 700 | 1 | a Sleegers, K.4 aut |
| 700 | 1 | a Ikram, M. A.4 aut |
| 700 | 1 | a Hiltunen, M.4 aut |
| 700 | 1 | a Reitz, C.4 aut |
| 700 | 1 | a Mateo, I.4 aut |
| 700 | 1 | a Feulner, T.4 aut |
| 700 | 1 | a Bullido, M.4 aut |
| 700 | 1 | a Galimberti, D.4 aut |
| 700 | 1 | a Concari, L.4 aut |
| 700 | 1 | a Alvarez, V.4 aut |
| 700 | 1 | a Sims, R.4 aut |
| 700 | 1 | a Gerrish, A.4 aut |
| 700 | 1 | a Chapman, J.4 aut |
| 700 | 1 | a Deniz-Naranjo, C.4 aut |
| 700 | 1 | a Solfrizzi, V.4 aut |
| 700 | 1 | a Sorbi, S.4 aut |
| 700 | 1 | a Arosio, B.4 aut |
| 700 | 1 | a Spalletta, G.4 aut |
| 700 | 1 | a Siciliano, G.4 aut |
| 700 | 1 | a Epelbaum, J.4 aut |
| 700 | 1 | a Hannequin, D.4 aut |
| 700 | 1 | a Dartigues, J-F4 aut |
| 700 | 1 | a Tzourio, C.4 aut |
| 700 | 1 | a Berr, C.4 aut |
| 700 | 1 | a Schrijvers, E. M. C.4 aut |
| 700 | 1 | a Rogers, R.4 aut |
| 700 | 1 | a Tosto, G.4 aut |
| 700 | 1 | a Pasquier, F.4 aut |
| 700 | 1 | a Bettens, K.4 aut |
| 700 | 1 | a Van Cauwenberghe, C.4 aut |
| 700 | 1 | a Fratiglioni, L.u Karolinska Institutet,Stockholms universitet,Centrum för forskning om äldre och åldrande (ARC), (tills m KI)4 aut |
| 700 | 1 | a Graff, C.u Karolinska Institutet4 aut |
| 700 | 1 | a Delepine, M.4 aut |
| 700 | 1 | a Ferri, R.4 aut |
| 700 | 1 | a Reynolds, C. A.4 aut |
| 700 | 1 | a Lannfelt, Larsu Uppsala universitet,Geriatrik,molekylär geriatrik/ rudbecklaboratoriet4 aut0 (Swepub:uu)lalan021 |
| 700 | 1 | a Ingelsson, Martinu Uppsala universitet,Geriatrik,molekylär geriatrik/ rudbecklaboratoriet4 aut0 (Swepub:uu)maing121 |
| 700 | 1 | a Prince, J. A.u Karolinska Institutet4 aut |
| 700 | 1 | a Chillotti, C.4 aut |
| 700 | 1 | a Pilotto, A.4 aut |
| 700 | 1 | a Seripa, D.4 aut |
| 700 | 1 | a Boland, A.4 aut |
| 700 | 1 | a Mancuso, M.4 aut |
| 700 | 1 | a Bossu, P.4 aut |
| 700 | 1 | a Annoni, G.4 aut |
| 700 | 1 | a Nacmias, B.4 aut |
| 700 | 1 | a Bosco, P.4 aut |
| 700 | 1 | a Panza, F.4 aut |
| 700 | 1 | a Sanchez-Garcia, F.4 aut |
| 700 | 1 | a Del Zompo, M.4 aut |
| 700 | 1 | a Coto, E.4 aut |
| 700 | 1 | a Owen, M.4 aut |
| 700 | 1 | a O'Donovan, M.4 aut |
| 700 | 1 | a Valdivieso, F.4 aut |
| 700 | 1 | a Caffara, P.4 aut |
| 700 | 1 | a Scarpini, E.4 aut |
| 700 | 1 | a Combarros, O.4 aut |
| 700 | 1 | a Buee, L.4 aut |
| 700 | 1 | a Campion, D.4 aut |
| 700 | 1 | a Soininen, H.4 aut |
| 700 | 1 | a Breteler, M.4 aut |
| 700 | 1 | a Riemenschneider, M.4 aut |
| 700 | 1 | a Van Broeckhoven, C.4 aut |
| 700 | 1 | a Alperovitch, A.4 aut |
| 700 | 1 | a Lathrop, M.4 aut |
| 700 | 1 | a Tregouet, D-A4 aut |
| 700 | 1 | a Williams, J.4 aut |
| 700 | 1 | a Amouyel, P.4 aut |
| 710 | 2 | a Stockholms universitetb Centrum för forskning om äldre och åldrande (ARC), (tills m KI)4 org |
| 773 | 0 | t Molecular Psychiatryd : Springer Science and Business Media LLCg 18:4, s. 461-470q 18:4<461-470x 1359-4184x 1476-5578 |
| 856 | 4 | u https://europepmc.org/articles/pmc3606943?pdf=render |
| 856 | 4 | u https://doi.org/10.1038/mp.2012.14y Fulltext |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-198612 |
| 856 | 4 8 | u https://doi.org/10.1038/mp.2012.14 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-89578 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:126412333 |
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