https://scholars.lib.ntu.edu.tw/handle/123456789/504788
標題: | The central nervous system patterning gene variants associated with clinical symptom severity of autism spectrum disorders | 作者: | YI-LING CHIEN Wu Y.-Y. Chen H.-I. WEN-CHE TSAI YEN-NAN CHIU Liu S.-K. SUSAN SHUR-FEN GAU |
公開日期: | 2017 | 出版社: | Elsevier B.V. | 卷: | 116 | 期: | 10 | 起(迄)頁: | 755-764 | 來源出版物: | Journal of the Formosan Medical Association | 摘要: | Background/Purpose Central nervous system (CNS) patterning genes are recognized as candidate genes for autism spectrum disorders (ASDs) based on neuroimaging and neuropathological evidence. Several genes that regulate CNS development are shown to be associated with ASD. Our previous family-based association study also revealed that a specific haplotype of WNT2 (wingless-type MMTV integration site family member 2) gene was overtransmitted to probands with ASD. Whether the CNS patterning genes moderate the clinical phenotype of ASD is unclear. This study investigated the genetic associations of WNT2, engrailed 2 (EN2), and forkhead box P2 (FOXP2) with the clinical symptom severity. Methods The sample included 391 patients (males, 88.3%; mean age ± standard deviation, 9.5 ± 4.4 years) diagnosed with ASDs. Tag single nucleotide polymorphisms (SNPs) of EN2, WNT2, and FOXP2 were genotyped. The single-locus and multilocus markers were tested for association. Results We found that multilocus markers of WNT2 were associated with stereotyped behaviors whereas the markers of FOXP2 tended to be associated with social deficits. Moreover, an SNP of WNT2 showed a trend to be associated with less inattentive symptoms. Conclusion Our findings that WNT2 and FOXP2 may moderate the clinical phenotypes of ASD provide evidence to support the possible universal effect of WNT2 and FOXP2 on neurodevelopmental symptom dimensions. Such findings warrant further validation in other independent samples. Trial registration: Clinical trial registration identifier: NCT00494754 ? 2017 |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85009223501&doi=10.1016%2fj.jfma.2016.11.015&partnerID=40&md5=c8d39167f5bc397f5758b319aca0ceee https://scholars.lib.ntu.edu.tw/handle/123456789/504788 |
ISSN: | 0929-6646 | DOI: | 10.1016/j.jfma.2016.11.015 | SDG/關鍵字: | engrailed 2 protein; methylphenidate; protein; transcription factor FOXP2; unclassified drug; Wnt2 protein; forkhead transcription factor; FOXP2 protein, human; Wnt2 protein; WNT2 protein, human; Article; autism; central nervous system; child; controlled study; disease severity; DSM-IV; female; gene frequency; gene locus; genetic association; genetic variation; genotype; haplotype; human; intelligence quotient; major clinical study; male; phenotype; school child; single nucleotide polymorphism; stereotypy; treatment outcome; Wechsler intelligence scale for children; adolescent; autism; genetics; pathophysiology; preschool child; severity of illness index; Taiwan; Adolescent; Autism Spectrum Disorder; Child; Child, Preschool; Female; Forkhead Transcription Factors; Haplotypes; Humans; Male; Phenotype; Polymorphism, Single Nucleotide; Severity of Illness Index; Taiwan; Wnt2 Protein |
顯示於: | 臨床醫學研究所 |
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