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@ARTICLE{Keller:136668,
author = {Keller, Margaux F and Saad, Mohamad and Bras, Jose and
Bettella, Francesco and Nicolaou, Nayia and Simón-Sánchez,
Javier and Mittag, Florian and Büchel, Finja and Sharma,
Manu and Gibbs, J Raphael and Schulte, Claudia and Moskvina,
Valentina and Durr, Alexandra and Holmans, Peter and
Kilarski, Laura L and Guerreiro, Rita and Hernandez, Dena G
and Brice, Alexis and Ylikotila, Pauli and Stefánsson,
Hreinn and Majamaa, Kari and Morris, Huw R and Williams,
Nigel and Gasser, Thomas and Heutink, Peter and Wood,
Nicholas W and Hardy, John and Martinez, Maria and
Singleton, Andrew B and Nalls, Michael A and Consortium,
International Parkinson's Disease Genomics and 2, Wellcome
Trust Case Control Consortium and Keller, Margaux F and
Nalls, Michael A and Plagnol, Vincent and Sheerin, Una-Marie
and Saad, Mohamad and Simón-Sánchez, Javier and Lesage,
Suzanne and Sveinbjörnsdóttir, Sigurlaug and Arepalli,
Sampath and Ben-Shlomo, Yoav and Berendse, Henk W and Berg,
Daniela and Bhatia, Kailash and de Bie, Rob M A and Biffi,
Alessandro and Bloem, Bas and Bochdanovits, Zoltan and
Bonin, Michael and Bras, Jose and Brockmann, Kathrin and
Brooks, Janet and Burn, David J and Charlesworth, Gavin and
Chen, Honglei and Chinnery, Patrick F and Chong, Sean and
Clarke, Carl E and Cookson, Mark R and Cooper, J Mark and
Corvol, Jean Christophe and Counsell, Carl and Damier,
Philippe and Dartigues, Jean-François and Segalen, Victor
and Deloukas, Panos and Deuschl, Günther and Dexter, David
T and van Dijk, Karin D and Dillman, Allissa and Durif,
Frank and Montpied, Gabriel and Edkins, Sarah and Evans,
Jonathan R and Foltynie, Thomas and Gao, Jianjun and
Gardner, Michelle and Gibbs, J Raphael and Goate, Alison and
Gray, Emma and Guerreiro, Rita and Gústafsson, Omar and
Harris, Clare and van Hilten, Jacobus J and Hofman, Albert
and Hollenbeck, Albert and Holton, Janice and Hu, Michele
and Huang, Xuemei and Huber, Heiko and Hudson, Gavin and
Hunt, Sarah E and Huttenlocher, Johanna and Illig, Thomas
and Jónsson, Pálmi V and Lambert, Jean-Charles and
Langford, Cordelia and Lees, Andrew and Lichtner, Peter and
Limousin, Patricia and Lopez, Grisel and Lorenz, Delia and
McNeill, Alisdair and Moorby, Catriona and Moore, Matthew
and Morris, Huw R and Morrison, Karen E and Mudanohwo, Ese
and O'Sullivan, Sean S and Pearson, Justin and Perlmutter,
Joel S and Pétursson, Hjörvar and Pollak, Pierre and Post,
Bart and Potter, Simon and Ravina, Bernard and Revesz, Tamas
and Riess, Olaf and Rivadeneira, Fernando and Rizzu,
Patrizia and Ryten, Mina and Sawcer, Stephen and Schapira,
Anthony and Scheffer, Hans and Shaw, Karen and Shoulson, Ira
and Sidransky, Ellen and Smith, Colin and Spencer, Chris C A
and Stefánsson, Hreinn and Steinberg, Stacy and Stockton,
Joanna D and Strange, Amy and Talbot, Kevin and Tanner,
Carlie M and Tashakkori-Ghanbaria, Avazeh and Tison,
François and Trabzuni, Daniah and Traynor, Bryan J and
Uitterlinden, André G and Velseboer, Daan and Vidailhet,
Marie and Walker, Robert and van de Warrenburg, Bart and
Wickremaratchi, Mirdhu and Williams, Nigel and
Williams-Gray, Caroline H and Winder-Rhodes, Sophie and
Stefánsson, Kári and Martinez, Maria and Sabatier, Paul
and Hardy, John and Brice, Alexis and Singleton, Andrew B
and Wood, Nicholas W and Donnelly, Peter and Barroso, Ines
and Blackwell, Jenefer M and Bramon, Elvira and Brown,
Matthew A and Casas, Juan P and Corvin, Aiden and Deloukas,
Panos and Duncanson, Audrey and Jankowski, Janusz and
Markus, Hugh S and Mathew, Christopher G and Palmer, Colin N
A and Plomin, Robert and Rautanen, Anna and Sawcer, Stephen
J and Trembath, Richard C and Viswanathan, Ananth C and
Wood, Nicholas W and Spencer, Chris C A and Band, Gavin and
Bellenguez, Céline and Freeman, Colin and Hellenthal,
Garrett and Giannoulatou, Eleni and Pirinen, Matti and
Pearson, Richard and Strange, Amy and Su, Zhan and Vukcevic,
Damjan and Donnelly, Peter and Langford, Cordelia and Hunt,
Sarah E and Edkins, Sarah and Gwilliam, Rhian and Blackburn,
Hannah and Bumpstead, Suzannah J and Dronov, Serge and
Gillman, Matthew and Gray, Emma and Hammond, Naomi and
Jayakumar, Alagurevathi and McCann, Owen T and Liddle,
Jennifer and Potter, Simon C and Ravindrarajah, Radhi and
Ricketts, Michelle and Waller, Matthew and Weston, Paul and
Widaa, Sara and Whittaker, Pamela and Barroso, Ines and
Deloukas, Panos},
title = {{U}sing genome-wide complex trait analysis to quantify
'missing heritability' in {P}arkinson's disease.},
journal = {Human molecular genetics},
volume = {21},
number = {22},
issn = {0964-6906},
address = {Oxford},
publisher = {Oxford Univ. Press},
reportid = {DZNE-2020-02990},
pages = {4996-5009},
year = {2012},
abstract = {Genome-wide association studies (GWASs) have been
successful at identifying single-nucleotide polymorphisms
(SNPs) highly associated with common traits; however, a
great deal of the heritable variation associated with common
traits remains unaccounted for within the genome.
Genome-wide complex trait analysis (GCTA) is a statistical
method that applies a linear mixed model to estimate
phenotypic variance of complex traits explained by
genome-wide SNPs, including those not associated with the
trait in a GWAS. We applied GCTA to 8 cohorts containing
7096 case and 19 455 control individuals of European
ancestry in order to examine the missing heritability
present in Parkinson's disease (PD). We meta-analyzed our
initial results to produce robust heritability estimates for
PD types across cohorts. Our results identify $27\%$ $(95\%$
CI 17-38, P = 8.08E - 08) phenotypic variance associated
with all types of PD, $15\%$ $(95\%$ CI -0.2 to 33, P =
0.09) phenotypic variance associated with early-onset PD and
$31\%$ $(95\%$ CI 17-44, P = 1.34E - 05) phenotypic variance
associated with late-onset PD. This is a substantial
increase from the genetic variance identified by top GWAS
hits alone (between 3 and $5\%)$ and indicates there are
substantially more risk loci to be identified. Our results
suggest that although GWASs are a useful tool in identifying
the most common variants associated with complex disease, a
great deal of common variants of small effect remain to be
discovered.},
keywords = {Adult / Aged / Aged, 80 and over / European Continental
Ancestry Group: genetics / Female / Genetic Predisposition
to Disease / Genetic Variation / Genome-Wide Association
Study / Humans / Male / Middle Aged / Multifactorial
Inheritance / Parkinson Disease: genetics / Quantitative
Trait, Heritable},
cin = {AG Halle / AG Gasser 1},
ddc = {570},
cid = {I:(DE-2719)1013034 / I:(DE-2719)1210000},
pnm = {345 - Population Studies and Genetics (POF3-345)},
pid = {G:(DE-HGF)POF3-345},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:22892372},
pmc = {pmc:PMC3576713},
doi = {10.1093/hmg/dds335},
url = {https://pub.dzne.de/record/136668},
}
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