TY - JOUR
TI - Individual common variants exert weak effects on the risk for autism
spectrum disorderspi
AU - Anney, Richard
AU - Klei, Lambertus
AU - Pinto, Dalila
AU - Almeida, Joana
AU - and Bacchelli, Elena
AU - Baird, Gillian
AU - Bolshakova, Nadia and
AU - Boelte, Sven
AU - Bolton, Patrick F.
AU - Bourgeron, Thomas
AU - Brennan,
AU - Sean
AU - Brian, Jessica
AU - Casey, Jillian
AU - Conroy, Judith and
AU - Correia, Catarina
AU - Corsello, Christina
AU - Crawford, Emily L.
AU - de
AU - Jonge, Maretha
AU - Delorme, Richard
AU - Duketis, Eftichia
AU - Duque,
AU - Frederico
AU - Estes, Annette
AU - Farrar, Penny
AU - Fernandez, Bridget A.
AU - and Folstein, Susan E.
AU - Fombonne, Eric
AU - Gilbert, John and
AU - Gillberg, Christopher
AU - Glessner, Joseph T.
AU - Green, Andrew and
AU - Green, Jonathan
AU - Guter, Stephen J.
AU - Heron, Elizabeth A.
AU - Holt,
AU - Richard
AU - Howe, Jennifer L.
AU - Hughes, Gillian
AU - Hus, Vanessa and
AU - Igliozzi, Roberta
AU - Jacob, Suma
AU - Kenny, Graham P.
AU - Kim, Cecilia
AU - and Kolevzon, Alexander
AU - Kustanovich, Vlad
AU - Lajonchere, Clara M.
AU - and Lamb, Janine A.
AU - Law-Smith, Miriam
AU - Leboyer, Marion
AU - Le
AU - Couteur, Ann
AU - Leventhal, Bennett L.
AU - Liu, Xiao-Qing
AU - Lombard,
AU - Frances
AU - Lord, Catherine
AU - Lotspeich, Linda
AU - Lund, Sabata C. and
AU - Magalhaes, Tiago R.
AU - Mantoulan, Carine
AU - McDougle, Christopher J.
AU - and Melhem, Nadine M.
AU - Merikangas, Alison
AU - Minshew, Nancy J. and
AU - Mirza, Ghazala K.
AU - Munson, Jeff
AU - Noakes, Carolyn
AU - Nygren,
AU - Gudrun
AU - Papanikolaou, Katerina
AU - Pagnamenta, Alistair T. and
AU - Parrini, Barbara
AU - Paton, Tara
AU - Pickles, Andrew
AU - Posey, David J.
AU - and Poustka, Fritz
AU - Ragoussis, Jiannis
AU - Regan, Regina
AU - Roberts,
AU - Wendy
AU - Roeder, Kathryn
AU - Roge, Bernadette
AU - Rutter, Michael L.
AU - and Schlitt, Sabine
AU - Shah, Naisha
AU - Sheffield, Val C.
AU - Soorya,
AU - Latha
AU - Sousa, Ines
AU - Stoppioni, Vera
AU - Sykes, Nuala
AU - Tancredi,
AU - Raffaella
AU - Thompson, Ann P.
AU - Thomson, Susanne
AU - Tryfon, Ana and
AU - Tsiantis, John
AU - Van Engeland, Herman
AU - Vincent, John B. and
AU - Volkmar, Fred
AU - Vorstman, J. A. S.
AU - Wallace, Simon
AU - Wing, Kirsty
AU - and Wittemeyer, Kerstin
AU - Wood, Shawn
AU - Zurawiecki, Danielle and
AU - Zwaigenbaum, Lonnie
AU - Bailey, Anthony J.
AU - Battaglia, Agatino and
AU - Cantor, Rita M.
AU - Coon, Hilary
AU - Cuccaro, Michael L.
AU - Dawson,
AU - Geraldine
AU - Ennis, Sean
AU - Freitag, Christine M.
AU - Geschwind,
AU - Daniel H.
AU - Haines, Jonathan L.
AU - Klauck, Sabine M.
AU - McMahon,
AU - William M.
AU - Maestrini, Elena
AU - Miller, Judith
AU - Monaco, Anthony
AU - P.
AU - Nelson, Stanley F.
AU - Nurnberger, Jr., John I.
AU - Oliveira,
AU - Guiomar
AU - Parr, Jeremy R.
AU - Pericak-Vance, Margaret A.
AU - Piven,
AU - Joseph
AU - Schellenberg, Gerard D.
AU - Scherer, StephenW.
AU - Vicente,
AU - Astrid M.
AU - Wassink, Thomas H.
AU - Wijsman, Ellen M.
AU - Betancur,
AU - Catalina
AU - Buxbaum, Joseph D.
AU - Cook, Edwin H.
AU - Gallagher, Louise
AU - and Gill, Michael
AU - Hallmayer, Joachim
AU - Paterson, Andrew D. and
AU - Sutcliffe, James S.
AU - Szatmari, Peter
AU - Vieland, Veronica J. and
AU - Hakonarson, Hakon
AU - Devlin, Bernie
JO - Human Molecular Genetics
PY - 2012
VL - 21
TODO - 21
SP - 4781-4792
PB - Oxford University Press
SN - 0964-6906, 1460-2083
TODO - 10.1093/hmg/dds301
TODO - null
TODO - While it is apparent that rare variation can play an important role in
the genetic architecture of autism spectrum disorders (ASDs), the
contribution of common variation to the risk of developing ASD is less
clear. To produce a more comprehensive picture, we report Stage 2 of the
Autism Genome Project genome-wide association study, adding 1301 ASD
families and bringing the total to 2705 families analysed (Stages 1 and
2). In addition to evaluating the association of individual single
nucleotide polymorphisms (SNPs), we also sought evidence that common
variants, en masse, might affect the risk. Despite genotyping over a
million SNPs covering the genome, no single SNP shows significant
association with ASD or selected phenotypes at a genome-wide level. The
SNP that achieves the smallest P-value from secondary analyses is
rs1718101. It falls in CNTNAP2, a gene previously implicated in
susceptibility for ASD. This SNP also shows modest association with age
of word/phrase acquisition in ASD subjects, of interest because features
of language development are also associated with other variation in
CNTNAP2. In contrast, allele scores derived from the transmission of
common alleles to Stage 1 cases significantly predict case status in the
independent Stage 2 sample. Despite being significant, the variance
explained by these allele scores was small (Vm 1). Based on results from
individual SNPs and their en masse effect on risk, as inferred from the
allele score results, it is reasonable to conclude that common variants
affect the risk for ASD but their individual effects are modest.
ER -