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Psychiatr Genet. 2010 Jun;20(3):113-7. doi: 10.1097/YPG.0b013e32833a216f.

Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population.

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1
State Key Lab of Medical Genetics, Central South University, Changsha, Hunan, China.

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.

PMID:
20414140
DOI:
10.1097/YPG.0b013e32833a216f
[Indexed for MEDLINE]
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