A Genome-wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1

作者：Ma Deqiong; Salyakina Daria; Jaworski James M; Konidari Ioanna; Whitehead Patrice L; Andersen Ashley N; Hoffman Joshua D; Slifer Susan H; Hedges Dale J; Cukier Holly N; Griswold Anthony J; McCauley Jacob L; Beecham Gary W; Wright Harry H; Abramson Ruth K; Martin Eden R; Hussman John P; Gilbert John R; Cuccaro Michael L; Haines Jonathan L; Pericak Vance Margaret A^*

来源：Annals of Human Genetics, 2009, 73(3): 263-273.

DOI：10.1111/j.1469-1809.2009.00523.x

• autism
• common variation
• GWAS

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.

• 出版日期2009-5