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


CONCLUSIONS
The results of family-based association study suggested that the CNTNAP2 is a susceptibility gene of autism in the Chinese Han population.
Li
Xiaoping
X
State Key Lab of Medical Genetics, Central South University, Changsha, Hunan, China.
Hu
Zhengmao
Z
He
Yiqun
Y
Xiong
Zhimin
Z
Long
Zhigao
Z
Peng
Yu
Y
Bu
Fengxiao
F
Ling
Jie
J
Xun
Guanglei
G
Mo
Xiaoyun
X
Pan
Qian
Q
Zhao
Jingping
J
Xia
Kun
K
D044466:Asian People / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics*; D002681:China; D005006:Ethnicity / Q000235:genetics*; D005190:Family; D005260:Female; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
C403049:CNTNAP2 protein, human; D005819:Genetic Markers; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins