Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.

Previous studies have suggested that the serotonin transporter (5-HTT) gene and the gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene, or other genes in the 15q11-q13 region, are possibly involved in susceptibility to autism. To test this hypothesis we performed an association study on th...

Full description

Bibliographic Details
Main Authors: Maestrini, E, Lai, C, Marlow, A, Matthews, N, Wallace, S, Bailey, A, Cook, E, Weeks, D, Monaco, A
Format: Journal article
Language:English
Published: 1999
_version_ 1826279884573376512
author Maestrini, E
Lai, C
Marlow, A
Matthews, N
Wallace, S
Bailey, A
Cook, E
Weeks, D
Monaco, A
author_facet Maestrini, E
Lai, C
Marlow, A
Matthews, N
Wallace, S
Bailey, A
Cook, E
Weeks, D
Monaco, A
author_sort Maestrini, E
collection OXFORD
description Previous studies have suggested that the serotonin transporter (5-HTT) gene and the gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene, or other genes in the 15q11-q13 region, are possibly involved in susceptibility to autism. To test this hypothesis we performed an association study on the collection of families from the International Molecular Genetic Study of Autism (IMGSA) Consortium, using the transmission disequilibrium test. Two polymorphisms in the 5-HTT gene (a functional insertion-deletion polymorphism in the promoter and a variable number tandem repeat in the second intron) were examined in 90 families comprising 174 affected individuals. Furthermore, seven microsatellite markers spanning the 15q11-q13 region were studied in 94 families with 182 affected individuals. No significant evidence of association or linkage was found at any of the markers tested, indicating that the 5-HTT and the GABRB3 genes are unlikely to play a major role in the aetiology of autism in our family data set.
first_indexed 2024-03-07T00:05:28Z
format Journal article
id oxford-uuid:77636e52-a6d2-4838-b270-82f5fa413fb1
institution University of Oxford
language English
last_indexed 2024-03-07T00:05:28Z
publishDate 1999
record_format dspace
spelling oxford-uuid:77636e52-a6d2-4838-b270-82f5fa413fb12022-03-26T20:23:40ZSerotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:77636e52-a6d2-4838-b270-82f5fa413fb1EnglishSymplectic Elements at Oxford1999Maestrini, ELai, CMarlow, AMatthews, NWallace, SBailey, ACook, EWeeks, DMonaco, APrevious studies have suggested that the serotonin transporter (5-HTT) gene and the gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene, or other genes in the 15q11-q13 region, are possibly involved in susceptibility to autism. To test this hypothesis we performed an association study on the collection of families from the International Molecular Genetic Study of Autism (IMGSA) Consortium, using the transmission disequilibrium test. Two polymorphisms in the 5-HTT gene (a functional insertion-deletion polymorphism in the promoter and a variable number tandem repeat in the second intron) were examined in 90 families comprising 174 affected individuals. Furthermore, seven microsatellite markers spanning the 15q11-q13 region were studied in 94 families with 182 affected individuals. No significant evidence of association or linkage was found at any of the markers tested, indicating that the 5-HTT and the GABRB3 genes are unlikely to play a major role in the aetiology of autism in our family data set.
spellingShingle Maestrini, E
Lai, C
Marlow, A
Matthews, N
Wallace, S
Bailey, A
Cook, E
Weeks, D
Monaco, A
Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.
title Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.
title_full Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.
title_fullStr Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.
title_full_unstemmed Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.
title_short Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.
title_sort serotonin transporter 5 htt and gamma aminobutyric acid receptor subunit beta3 gabrb3 gene polymorphisms are not associated with autism in the imgsa families the international molecular genetic study of autism consortium
work_keys_str_mv AT maestrinie serotonintransporter5httandgammaaminobutyricacidreceptorsubunitbeta3gabrb3genepolymorphismsarenotassociatedwithautismintheimgsafamiliestheinternationalmoleculargeneticstudyofautismconsortium
AT laic serotonintransporter5httandgammaaminobutyricacidreceptorsubunitbeta3gabrb3genepolymorphismsarenotassociatedwithautismintheimgsafamiliestheinternationalmoleculargeneticstudyofautismconsortium
AT marlowa serotonintransporter5httandgammaaminobutyricacidreceptorsubunitbeta3gabrb3genepolymorphismsarenotassociatedwithautismintheimgsafamiliestheinternationalmoleculargeneticstudyofautismconsortium
AT matthewsn serotonintransporter5httandgammaaminobutyricacidreceptorsubunitbeta3gabrb3genepolymorphismsarenotassociatedwithautismintheimgsafamiliestheinternationalmoleculargeneticstudyofautismconsortium
AT wallaces serotonintransporter5httandgammaaminobutyricacidreceptorsubunitbeta3gabrb3genepolymorphismsarenotassociatedwithautismintheimgsafamiliestheinternationalmoleculargeneticstudyofautismconsortium
AT baileya serotonintransporter5httandgammaaminobutyricacidreceptorsubunitbeta3gabrb3genepolymorphismsarenotassociatedwithautismintheimgsafamiliestheinternationalmoleculargeneticstudyofautismconsortium
AT cooke serotonintransporter5httandgammaaminobutyricacidreceptorsubunitbeta3gabrb3genepolymorphismsarenotassociatedwithautismintheimgsafamiliestheinternationalmoleculargeneticstudyofautismconsortium
AT weeksd serotonintransporter5httandgammaaminobutyricacidreceptorsubunitbeta3gabrb3genepolymorphismsarenotassociatedwithautismintheimgsafamiliestheinternationalmoleculargeneticstudyofautismconsortium
AT monacoa serotonintransporter5httandgammaaminobutyricacidreceptorsubunitbeta3gabrb3genepolymorphismsarenotassociatedwithautismintheimgsafamiliestheinternationalmoleculargeneticstudyofautismconsortium