Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population
Po-Hsiu Kuo
Li-Chung Chuang
Mei-Hsin Su
Chia-Hsiang Chen
Chien-Hsiun Chen
Jer-Yuarn Wu
Chung-Jen Yen
Yu-Yu Wu
Shih-Kai Liu
Miao-Chun Chou
Wen-Jiun Chou
Yen-Nan Chiu
Wen-Che Tsai
Susan Shur-Fen Gau
10.1371/journal.pone.0138695
https://plos.figshare.com/articles/dataset/_Genome_Wide_Association_Study_for_Autism_Spectrum_Disorder_in_Taiwanese_Han_Population_/1554103
<div><p>Background</p><p>Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic components. Several recent genome-wide association (GWA) studies in Caucasian samples have reported a number of gene regions and loci correlated with the risk of ASD—albeit with very little consensus across studies.</p><p>Methods</p><p>A two-stage GWA study was employed to identify common genetic variants for ASD in the Taiwanese Han population. The discovery stage included 315 patients with ASD and 1,115 healthy controls, using the Affymetrix SNP array 6.0 platform for genotyping. Several gene regions were then selected for fine-mapping and top markers were examined in extended samples. Single marker, haplotype, gene-based, and pathway analyses were conducted for associations.</p><p>Results</p><p>Seven SNPs had p-values ranging from 3.4~9.9*10<sup>−6</sup>, but none reached the genome-wide significant level. Five of them were mapped to three known genes (<i>OR2M4</i>, <i>STYK1</i>, and <i>MNT</i>) with significant empirical gene-based p-values in <i>OR2M4</i> (p = 3.4*10<sup>−5</sup>) and <i>MNT</i> (p = 0.0008). Results of the fine-mapping study showed single-marker associations in the <i>GLIS1</i> (rs12082358 and rs12080993) and <i>NAALADL2</i> (rs3914502 and rs2222447) genes, and gene-based associations for the <i>OR2M3-OR2T5</i> (olfactory receptor genes, p = 0.02), and <i>GLIPR1/KRR1</i> gene regions (p = 0.015). Pathway analyses revealed important pathways for ASD, such as olfactory and G protein–coupled receptors signaling pathways.</p><p>Conclusions</p><p>We reported Taiwanese Han specific susceptibility genes and variants for ASD. However, further replication in other Asian populations is warranted to validate our findings. Investigation in the biological functions of our reported genetic variants might also allow for better understanding on the underlying pathogenesis of autism.</p></div>
2015-09-23 03:41:58
Taiwanese Han population
Affymetrix SNP array 6.0 platform
Autism Spectrum Disorder
2m
neurodevelopmental disorder
discovery stage
mnt
rs 12082358
gene regions
gwa
associations.ResultsSeven SNPs
susceptibility genes
asd
Caucasian samples
Taiwanese Han
STYK
rs 3914502
receptor genes
Asian populations
Taiwanese Han Population BackgroundAutism spectrum disorder
GLIS 1
Several gene regions
variant
315 patients
pathway analyses
Single marker
NAALADL 2
GLIPR