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Serotonin transporter gene and schizophrenia: evidence for association/linkage disequilibrium in families with affected siblings as obtained by transmission disequilibrium test

The serotonergic (5-HT) system has been implicated in the etiopathogenesis of psychoses. Since the 5-HT transporter plays an important role in regulation of 5-HT transmission, its gene can be considered as a candidate for vulnerability to psychiatric disorders. Two polymorphic sites of the 5-HT transporter gene – 5-HTTLPR: a VNTR in the 59 regulatory region, and a VNTR in the second intron – were studied in a sample of 61 families for association and linkage with schizophrenia by the transmission disequilibrium test (TDT). Each family contained at least two siblings affected with schizophrenia or schizoaffective disorder (mainly schizophrenic). 133 affected offspring, with parental information for genotyping, were available for analysis. No preferential transmission of either short or long alleles of the promoter polymorphism was observed. However, a transmission distortion was detected for alleles of the intronic VNTR polymorphism (x2 TDTmax = 14.33 ; p=0.0002 ; corrected p value = 0.0003), resulting in more frequent than expected transmission of the 12 repeat allele. This finding adds additional evidence to the idea that the serotonergic system may be involved in development of psychoses.

5HT transporter; gene polymorphism; schizophrenia

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