Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population

Lifang Wang, Meixiang Jia, Weihua Yue, Fulei Tang, Mei Qu, Yan Ruan, Tianlan Lu, Handi Zhang, Hao Yan, Jing Liu, Yanqing Guo, Jishui Zhang, Xiaoling Yang, Dai Zhang

Research output: Contribution to journalArticlepeer-review

61 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)434-438
Number of pages5
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Issue number4
StatePublished - Jun 5 2008


  • Family-based association test (FBAT)
  • Haplotype
  • Single nucleotide polymorphism (SNP)

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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