Association of the Homeobox Transcription Factor Gene ENGRAILED 2 with Autistic Disorder in Chinese Children

Neuropsychobiology - Tập 57 Số 1-2 - Trang 3-8 - 2008
Pinchen Yang1, F Ibrotic Lung2, Tai‐Heng Chen3, Hsin-Yi Hsieh4, Chung-Ling Liang5, Suh‐Hang Hank Juo4
1Department of Psychiatry
2Graduate Institute of Behavioral Science and
3Pediatrics and Laboratory Medicine, Kaohsiung Medical University Hospital,
4Graduate Institute of Medial Genetics, Kaohsiung Medical University, Departments of
5Bright-Eyes Clinics, and

Tóm tắt

<i>Background:</i> Autism is a neurodevelopmental disorder with a strong genetic component. Previous studies have mapped the disease to chromosome 7q, where the homeobox transcription factor ENGRAILED 2 (<i>EN2</i>) gene is located. <i>EN2</i> is specifically involved in patterning the region that gives rise to the cerebellum. In the present work, we carried out a case-control study to determine whether 2 intronic single-nucleotide polymorphisms (SNPs) of <i>EN2</i> are a susceptibility to autism in a Han Chinese population. <i>Method:</i> We enrolled 184 cases of DSM-IV-TR diagnosed autistic disorder, 225 controls of unrelated healthy volunteers and 409 randomly selected controls from the community who lives in the adjacent geographical regions for this study. Two SNPs (rs1861972, rs1861973) at the <i>EN2</i> gene that have been reported to be associated with autism underwent analysis among our studied cohorts. Both the UNPHASE and PHASE statistical programs were utilized for evaluating the association of <i>EN2</i> SNPs with autism based on allelic and genotypic frequencies and haplotype compositions accompanied with the goodness-of-fit method of the χ<sup>2</sup> test. The gender difference was also investigated by using 2-side Fisher’s exact test treated as a covariate in logistic regression analysis. <i>Results and Conclusion:</i> Both the allelic and genotypic distributions of the 2 polymorphisms were concordant with Hardy-Weinberg equilibrium. Significant differences were found for cases versus community and overall controls. By using the UNPHASE and PHASE programs, the 2-marker haplotype A-C of <i>EN2</i> was identified to have a protective effect for autism, indicating that the ethnic difference might confound the <i>EN2</i> association with autism. Therefore, more <i>EN2</i> gene association studies of Han Chinese populations are warranted to confirm this finding.

Từ khóa


Tài liệu tham khảo

10.1001%2Fjama.289.1.87

10.1542%2Fpeds.113.5.e472

10.1038%2F35103559

10.1093%2Fhmg%2F10.9.973

10.1038%2Fsj.mp.4001922

10.1038%2Fsj.mp.4001874

10.1038%2Fsj.mp.4001498

10.1086%2F497705

10.1212%2FWNL.57.2.245

10.1176%2Fappi.ajp.160.2.262

10.1016%2Fj.brainres.2006.07.086

10.1093%2Fnar%2F29.17.e88

Thông tin
Thông tin xuất bản

Neuropsychobiology

Tập 57 Số 1-2

3-8

Thông tin tác giả