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Association between the FOXP2 gene and autistic disorder in Chinese population
Author(s) -
Gong Xiaohong,
Jia Meixiang,
Ruan Yan,
Shuang Mei,
Liu Jing,
Wu Suping,
Guo Yanqing,
Yang Jianzhong,
Ling Yansu,
Yang Xiaoling,
Zhang Dai
Publication year - 2004
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.20162
Subject(s) - foxp2 , genetics , single nucleotide polymorphism , haplotype , biology , autism , snp , linkage disequilibrium , population , genetic association , point mutation , gene , mutation , transcription factor , genotype , medicine , psychiatry , environmental health
Several genomewide screens indicated that chromosome 7q was linked to autistic disorder. FOXP2, located on 7q31, is a putative transcription factor containing a polyglutamine tract and a forkhead DNA binding domain. It is one member of the forkhead family who are known to be key regulators of embryogenesis. A point mutation at a highly conserved residue within the forkhead domain co‐segregated with affected status in the KE family who was a unique three generation pedigree with a severe speech and language disorder and FOXP2 was directly disrupted by a translocation in an individual who had similar deficits as those of the KE family. Several studies have investigated the role of FOXP2 polymorphisms in autism and none of them found positive association. We performed a family‐based association study of three single nucleotide polymorphisms (SNPs) of FOXP2 in 181 Chinese Han trios using the analyses of transmission/disequilibrium test (TDT) and haplotype. We found a significant association between autistic disorder and one SNP, as well as with specific haplotypes formed by this SNP with two other SNPs we investigated. Our findings suggest that the FOXP2 gene may be involved in the pathogenesis of autism in Chinese population. © 2004 Wiley‐Liss, Inc.