Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis
Open Access
- 6 December 2007
- journal article
- Published by Springer Nature in BMC Medical Genetics
- Vol. 8 (1) , 74
- https://doi.org/10.1186/1471-2350-8-74
Abstract
Autism is a complex, heterogeneous, behaviorally-defined disorder characterized by disruptions of the nervous system and of other systems such as the pituitary-hypothalamic axis. In a previous genome wide screen, we reported linkage of autism with a 1.2 Megabase interval on chromosome 5q31. For the current study, we hypothesized that 3 of the genes in this region could be involved in the development of autism: 1) paired-like homeodomain transcription factor 1 (PITX1), which is a key regulator of hormones within the pituitary-hypothalamic axis, 2) neurogenin 1, a transcription factor involved in neurogenesis, and 3) histone family member Y (H2AFY), which is involved in X-chromosome inactivation in females and could explain the 4:1 male:female gender distortion present in autism.Keywords
This publication has 40 references indexed in Scilit:
- Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disordersNature Genetics, 2006
- Estimating haplotype relative risks in complex disease from unphased SNPs data in families using a likelihood adjusted for ascertainmentGenetic Epidemiology, 2006
- Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autismMolecular Psychiatry, 2005
- NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec populationAmerican Journal Of Medical Genetics Part B-Neuropsychiatric Genetics, 2004
- High Blood Monocyte Counts and Neopterin Levels in Children With Autistic DisorderAmerican Journal of Psychiatry, 2003
- Pituitary Homeobox Factor 1, A Novel Transcription Factor in the Adrenal Regulating Steroid 11ß-hydroxylaseHormone and Metabolic Research, 2003
- Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autismNature Genetics, 2003
- Evidence for a Susceptibility Gene for Autism on Chromosome 2 and for Genetic HeterogeneityAmerican Journal of Human Genetics, 2001
- A Genomic Screen of Autism: Evidence for a Multilocus EtiologyAmerican Journal of Human Genetics, 1999
- Plasma β‐Endorphin, Adrenocorticotropin Hormone, and Cortisol in AutismJournal of Child Psychology and Psychiatry, 1997