Family-based association study of the 5-HT transporter gene and schizophrenia.
The gene coding for the 5-HT transporter (5-HTT) is considered as a candidate gene for schizophrenia, because this transporter plays a key role in serotonin neurotransmission. Previous genetic studies focusing on this gene yielded conflicting results, presumably because of stratification biases linked to the case-control association study approach, and the potential genetic and phenotypic heterogeneity of schizophrenia. We investigated the 5-HTTLPR and 17-bp VNTR (variable number of tandem repeats) polymorphisms of this gene in 103 trios using the transmission disequilibrium test. No preferential transmission of either allele of the 17-bp VNTR was observed, but an excess of transmission of the L allele of the 5-HTTLPR polymorphism was detected (p = 0.03). As the haplotype analyses did not improve the strength of the association, our data provide convergent evidence for a significant role of the 5-HTTLPR promoter polymorphism of the 5-HTT gene in the vulnerability to schizophrenia.
Dubertret
Caroline
C
Service de Psychiatrie Adultes, Faculty of Medicine Bichat-Claude Bernard, Louis Mourier Hospital (AP-HP), Colombes Cedex, France. caroline.dubertret@lmr.ap-hop-paris.fr
Hanoun
Naima
N
Adès
Jean
J
Hamon
Michel
M
Gorwood
Philip
P
D000328:Adult; D000368:Aged; D005260:Female; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D012559:Schizophrenia / Q000235:genetics*; D012701:Serotonin / Q000378:metabolism; D050486:Serotonin Plasma Membrane Transport Proteins; D009435:Synaptic Transmission / Q000235:genetics
D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins; D012701:Serotonin