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Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders
- Source :
- Psychiatric Genetics, Psychiatric Genetics, Lippincott, Williams & Wilkins, 2008, 18 (6), pp.295-301. ⟨10.1097/YPG.0b013e3283060fa5⟩, Psychiatric Genetics, Lippincott, Williams & Wilkins, 2008, 18 (6), pp.295-301. 〈10.1097/YPG.0b013e3283060fa5〉
- Publication Year :
- 2008
- Publisher :
- HAL CCSD, 2008.
-
Abstract
- International audience; OBJECTIVES: Autism (MIM#209850) and schizophrenia (MIM#181500) are both neurodevelopmental psychiatric disorders characterized by a highly genetic component. Homeogenes and forkhead genes encode transcription factors, which have been involved in brain development and cell differentiation. Thus, they are relevant candidate genes for psychiatric disorders. Genetic studies have reported an association between autism and DLX2, HOXA1, EN2, ARX, and FOXP2 genes whereas only three studies of EN2, OTX2, and FOXP2 were performed on schizophrenia. Interestingly, most of these candidate genes contain trinucleotide repeats coding for polyamino acid stretch in which instability can be the cause of neurodevelopmental disorders. Our goal was to identify variations of coding trinucleotide repeats in schizophrenia, autism, and idiopathic mental retardation. METHODS: We screened the coding trinucleotide repeats of OTX1, EN1, DLX2, HOXA1, and FOXP2 genes in populations suffering from schizophrenia (247 patients), autism (98 patients), and idiopathic mental retardation (56 patients), and compared them with control populations (112 super controls and 202 healthy controls). RESULTS: Novel deletions and insertions of coding trinucleotide repeats were found in the DLX2, HOXA1, and FOXP2 genes. Most of these variations were detected in controls and no difference in their distribution was observed between patient and control groups. Two different polymorphisms in FOXP2 were, however, found only in autistic patients and the functional consequences of these variations of repeats have to be characterized and correlated to particular clinical features. CONCLUSION: This study did not identify specific disease risk variants of trinucleotide repeats in OTX1, EN1, DLX2, HOXA1, and FOXP2 candidate genes in neurodevelopmental psychiatric disorders.
- Subjects :
- Male
Candidate gene
MESH : Polymorphism, Genetic
[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology
Coding (therapy)
MESH : Genes, Homeobox
0302 clinical medicine
Trinucleotide Repeats
MESH : Female
Genetics (clinical)
Genetics
0303 health sciences
Mental Disorders
Genes, Homeobox
FOXP2
MESH : Trinucleotide Repeats
3. Good health
Psychiatry and Mental health
Schizophrenia
[ SDV.NEU.NB ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology
Female
medicine.medical_specialty
MESH: Trinucleotide Repeats
Brain development
MESH : Male
engrailed genes
autism
Biology
mental retardation
03 medical and health sciences
HOXA1
MESH: Polymorphism, Genetic
mental disorders
medicine
Humans
MESH: Mental Disorders
DLX2
MESH : Mental Disorders
Psychiatry
Transcription factor
Gene
Biological Psychiatry
030304 developmental biology
Polymorphism, Genetic
MESH: Humans
MESH : Humans
MESH: Genes, Homeobox
medicine.disease
MESH: Male
schizophrenia
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Autism
MESH: Female
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 09558829
- Database :
- OpenAIRE
- Journal :
- Psychiatric Genetics, Psychiatric Genetics, Lippincott, Williams & Wilkins, 2008, 18 (6), pp.295-301. ⟨10.1097/YPG.0b013e3283060fa5⟩, Psychiatric Genetics, Lippincott, Williams & Wilkins, 2008, 18 (6), pp.295-301. 〈10.1097/YPG.0b013e3283060fa5〉
- Accession number :
- edsair.doi.dedup.....9ecbc17aae42a115c2aa5fdc25cf949c