Abstract:
OBJECTIVES:Autism is a neurodevelopmental disorder, and genetic factors play an important role in its pathogenesis. Earlier findings suggest the CNTNAP2 as a predisposition locus of autism, but no study has been carried out on the possible association of CNTNAP2 with autism in the Chinese Han population. METHODS:In this study, three single nucleotide polymorphisms located within the CNTNAP2 were genotyped in 185 Chinese Han autistic families by polymerase chain reaction-restriction fragment length polymorphism analysis, followed by a transmission disequilibrium test. RESULTS:The results show that a common noncoding variant (rs10500171) is associated with the increased risk for autism, and haplotype T-A (rs7794745- rs10500171, P=0.011) and haplotype A-T-A (rs10244837- rs7794745- rs10500171, P=0.032) also showed evidence of association. CONCLUSION:The results of family-based association study suggested that the CNTNAP2 is a susceptibility gene of autism in the Chinese Han population.
journal_name
Psychiatr Genetjournal_title
Psychiatric geneticsauthors
Li X,Hu Z,He Y,Xiong Z,Long Z,Peng Y,Bu F,Ling J,Xun G,Mo X,Pan Q,Zhao J,Xia Kdoi
10.1097/YPG.0b013e32833a216fsubject
Has Abstractpub_date
2010-06-01 00:00:00pages
113-7issue
3eissn
0955-8829issn
1473-5873journal_volume
20pub_type
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pub_type: 临床试验,杂志文章
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