Association between the FOXP2 gene and autistic disorder in Chinese population.
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.
Gong
Xiaohong
X
Institute of Mental Health, Peking University, Beijing, China.
Jia
Meixiang
M
Ruan
Yan
Y
Shuang
Mei
M
Liu
Jing
J
Wu
Suping
S
Guo
Yanqing
Y
Yang
Jianzhong
J
Ling
Yansu
Y
Yang
Xiaoling
X
Zhang
Dai
D
D000483:Alleles; D001321:Autistic Disorder / Q000235:genetics* / Q000473:pathology; D002681:China; D004247:DNA / Q000235:genetics / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005260:Female; D051858:Forkhead Transcription Factors; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D009679:Nuclear Family; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*
C465448:FOXP2 protein, human; D051858:Forkhead Transcription Factors; D014157:Transcription Factors; D004247:DNA; C055927:endodeoxyribonuclease MseI; D015252:Deoxyribonucleases, Type II Site-Specific; C040158:GTAC-specific type II deoxyribonucleases