title: Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population.
abstract: Human ENGRAILED 2 (EN2) gene is localized to 7q36, an autism susceptibility locus. En2 knockout mice display hypoplasia of cerebellum and a decrease in the number of Purkinje cell, which are similar to those reported for individuals with autism. Furthermore, deficits in social behavior were detected in En2(-/-) mice. Two recent studies have demonstrated that two intronic SNPs (rs1861972, rs1861973) in the EN2 gene are significantly associated with autism. To investigate whether this finding could be replicated in Chinese Han population, we performed the association study between eight single nucleotide polymorphisms (SNPs) of the EN2 gene and autism in 210 Chinese Han trios, using the family-based association test (FBAT). The present study demonstrated that a preferential transmission of the rs3824068 A-allele to affected offspring (A > G: Z = 2.399, P = 0.0165). After the Bonferroni correction, this statistical significance of preferential transmission did not remain. However, when haplotypes were constructed with multiple markers, a number of haplotypes including three two-marker haplotypes, nine three-marker haplotypes, one four-marker haplotype, and one six-marker haplotype, all of which contain the major allele A of rs3824068, displayed significantly associated with autism. These results were still significant after using the permutation method to obtain empirical P values. Thus, our data provide evidence that the EN2 gene may be implicated in the predisposition to autism in the Chinese Han population.
authors.affiliation: Key laboratory for Mental Health, Ministry of Health, PR China.
authors.forename: Lifang
authors.initials: L
authors.lastname: Wang
authors.forename: Meixiang
authors.initials: M
authors.lastname: Jia
authors.forename: Weihua
authors.initials: W
authors.lastname: Yue
authors.forename: Fulei
authors.initials: F
authors.lastname: Tang
authors.forename: Mei
authors.initials: M
authors.lastname: Qu
authors.forename: Yan
authors.initials: Y
authors.lastname: Ruan
authors.forename: Tianlan
authors.initials: T
authors.lastname: Lu
authors.forename: Handi
authors.initials: H
authors.lastname: Zhang
authors.forename: Hao
authors.initials: H
authors.lastname: Yan
authors.forename: Jing
authors.initials: J
authors.lastname: Liu
authors.forename: Yanqing
authors.initials: Y
authors.lastname: Guo
authors.forename: Jishui
authors.initials: J
authors.lastname: Zhang
authors.forename: Xiaoling
authors.initials: X
authors.lastname: Yang
authors.forename: Dai
authors.initials: D
authors.lastname: Zhang
mesh_terms: D000483:Alleles; D044466:Asian People / Q000208:ethnology; D001321:Autistic Disorder / Q000453:epidemiology / Q000235:genetics*; D003627:Data Interpretation, Statistical; D006239:Haplotypes; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns; D017720:Molecular Epidemiology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009679:Nuclear Family; D020641:Polymorphism, Single Nucleotide; D000099266:Engrailed 2 Protein
chemical_list: D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D000099266:Engrailed 2 Protein