| Title | Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population |
| Authors | Wang, Lifang Jia, Meixiang Yue, Weihua Tang, Fulei Qu, Mei Ruan, Yan Lu, Tianlan Zhang, Handi Yan, Hao Liu, Jing Guo, Yanqing Zhang, Jishui Yang, Xiaoling Zhang, Dai |
| Affiliation | Peking Univ, Inst Natl Hlth, Beijing 100083, Peoples R China. Minist Hlth, Key Lab Mental Hlth, Beijing, Peoples R China. Capital Univ Med Sci, Beijing Childrens Hosp, Beijing, Peoples R China. Peking Univ, Inst Natl Hlth, 51,Hua Yuan Bei Rd, Beijing 100083, Peoples R China. |
| Keywords | single nucleotide polymorphism (SNP) family-based association test (FBAT) haplotype HOMEOBOX-TRANSCRIPTION-FACTOR INFANTILE-AUTISM SPECTRUM-DISORDER CEREBELLAR DEVELOPMENT SUSCEPTIBILITY LOCUS GENOMEWIDE SCREEN CELL LOSS HYPOPLASIA BRAIN BEHAVIOR |
| Issue Date | 2008 |
| Publisher | american journal of medical genetics part b neuropsychiatric genetics |
| Citation | AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS.2008,147B,(4),434-438. |
| 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 nueleotide 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. (c) 2007 Wiley-Liss, Inc. |
| URI | http://hdl.handle.net/20.500.11897/248911 |
| ISSN | 1552-4841 |
| DOI | 10.1002/ajmg.b.30623 |
| Indexed | SCI(E) |
| Appears in Collections: | 待认领 |
