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Rare genotype combination of the serotonin transporter gene associated with treatment response in severe personality disorder

Salzmann, Annick
Saiz, Pilar A.
Baca-Garcia, Enrique
Sarchiapone, Marco
Garcia-Portilla, Maria P.
Carli, Vladimir
Vaquero-Lorenzo, Concepcion
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Published in American Journal of Medical Genetics. B. 2010, vol. 153B, no. 8, p. 1494-1497
Abstract The insertion deletion (ins/del) polymorphism of the serotonin transporter gene (5-HTTLPR) has been associated with several psychiatric phenotypes and antidepressant's response. We investigated, in a large cohort of 5,608 controls and subjects suffering from various psychiatric disorders, the frequency of haplotypes and corresponding genotypes combining the 5-HTTLPR and the other serotonin transporter promoter functional variant (rs25531). We showed that rs25531 lies 18 bp 5' to the site where the 43 bp (and not 44 bp as previously described) ins/del defines the 14- and 16-repeat alleles. These polymorphisms should therefore be considered as four alleles instead of a triallelic unique locus. The very rare G-14/G-16 genotype was carried on by only three subjects. These are women with a history of suicide attempt with a psychiatric history strongly suggesting a borderline personality disorder. Two of them have shown a non-response to serotoninergic antidepressant. Interestingly, in one of them was observed a spectacular response after the introduction of bupropion. The genotyping droved our therapeutic approach, by preferring a dopaminergic over a serotoninergic agent. This study highlights the usefulness of studying very rare clinical cases as well as rare variants, in order to deal with the biological heterogeneity of spectral disorders. (c) 2010 Wiley-Liss, Inc.
Keywords AdultAllelesAntidepressive Agents/therapeutic useBorderline Personality Disorder/drug therapy/*geneticsCase-Control StudiesFemaleGene FrequencyGenotypeHaplotypesHumansINDEL MutationMaleMental Disorders/drug therapy/*geneticsMiddle AgedPolymerase Chain ReactionPolymorphism, GeneticPromoter Regions, GeneticSerotonin Plasma Membrane Transport Proteins/*geneticsSerotonin Uptake Inhibitors/*therapeutic useTreatment Outcome
PMID: 20862697
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Research groups Génétique psychiatrique (4)
Psychiatrie communautaire (688)
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PERROUD, Nader Ali et al. Rare genotype combination of the serotonin transporter gene associated with treatment response in severe personality disorder. In: American Journal of Medical Genetics. B, 2010, vol. 153B, n° 8, p. 1494-1497. doi: 10.1002/ajmg.b.31118 https://archive-ouverte.unige.ch/unige:21209

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Deposited on : 2012-05-23

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