Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD)

被引：25
作者：
Zhou, Xiao-Lei
Giacobini, MaiBritt [1 ]
Anderlid, Britt-Marie
Anckarsater, Henrik
Omrani, Davood
Gillberg, Christopher
Nordenskjold, Magnus
Lindblom, Annika
机构：
[1] Karolinska Univ Hosp, CMM, Dept Clin Genet, S-17176 Stockholm, Sweden
[2] Karolinska Univ Hosp, CMM, Dept Mol Med, S-17176 Stockholm, Sweden
[3] Malmo Univ Hosp, Forens Psychiat Clin, Malmo, Sweden
[4] Mottahary Hosp, Kashani AVE, Genet Unit, Uromieh, Iran
[5] Univ Gothenburg, Dept Child & Adolescent Psychiat, Gothenburg, Sweden
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS | 2007年 / 144B卷 / 03期
关键词：
APC; SNP; haplotype; autism spectrum disorder (ASD); association;
D O I：
10.1002/ajmg.b.30415
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We serendipitously identified a single nucleotide polymorphism (SNP), 8636C > A (rs1804197) in the T-untranslated region of the adenomatous polyposis coli (APC) gene to be associated with autism spectrum disorder (ASD). In order to gain further evidence for the association between the APC locus and ASD, we genotyped four additional adjacent common SNPs (rs2229992, rs42427, rs459552, and rs465899) in the coding regions within the APC gene in a set of Swedish ASDs and controls. One common haplotype TGAG was found to be associated with ASD after haplotype analysis using both Haploview v3.1.1 (P = 0.006) and COCAPHASE v2.403 (P = 0.030). This result is the first to suggest that the genomic locus at APC is associated with ASD, and that the APC gene itself is a good predisposing candidate to be evaluated in future studies due to its important role in neuronal development and function. (c) 2007 Wiley-Liss, Inc.
引用
收藏
页码：351 / 354
页数：4
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