title: A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.
abstract: Although autism is one of the most heritable neuropsychiatric disorders, its underlying genetic architecture has largely eluded description. To comprehensively examine the hypothesis that common variation is important in autism, we performed a genome-wide association study (GWAS) using a discovery dataset of 438 autistic Caucasian families and the Illumina Human 1M beadchip. 96 single nucleotide polymorphisms (SNPs) demonstrated strong association with autism risk (p-value < 0.0001). The validation of the top 96 SNPs was performed using an independent dataset of 487 Caucasian autism families genotyped on the 550K Illumina BeadChip. A novel region on chromosome 5p14.1 showed significance in both the discovery and validation datasets. Joint analysis of all SNPs in this region identified 8 SNPs having improved p-values (3.24E-04 to 3.40E-06) than in either dataset alone. Our findings demonstrate that in addition to multiple rare variations, part of the complex genetic architecture of autism involves common variation.
authors.affiliation: Miami Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA.
authors.forename: Deqiong
authors.initials: D
authors.lastname: Ma
authors.forename: Daria
authors.initials: D
authors.lastname: Salyakina
authors.forename: James M
authors.initials: JM
authors.lastname: Jaworski
authors.forename: Ioanna
authors.initials: I
authors.lastname: Konidari
authors.forename: Patrice L
authors.initials: PL
authors.lastname: Whitehead
authors.forename: Ashley N
authors.initials: AN
authors.lastname: Andersen
authors.forename: Joshua D
authors.initials: JD
authors.lastname: Hoffman
authors.forename: Susan H
authors.initials: SH
authors.lastname: Slifer
authors.forename: Dale J
authors.initials: DJ
authors.lastname: Hedges
authors.forename: Holly N
authors.initials: HN
authors.lastname: Cukier
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Griswold
authors.forename: Jacob L
authors.initials: JL
authors.lastname: McCauley
authors.forename: Gary W
authors.initials: GW
authors.lastname: Beecham
authors.forename: Harry H
authors.initials: HH
authors.lastname: Wright
authors.forename: Ruth K
authors.initials: RK
authors.lastname: Abramson
authors.forename: Eden R
authors.initials: ER
authors.lastname: Martin
authors.forename: John P
authors.initials: JP
authors.lastname: Hussman
authors.forename: John R
authors.initials: JR
authors.lastname: Gilbert
authors.forename: Michael L
authors.initials: ML
authors.lastname: Cuccaro
authors.forename: Jonathan L
authors.initials: JL
authors.lastname: Haines
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Pericak-Vance
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics; D055815:Young Adult