A novel allele in the promoter region of the human serotonin transporter gene

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Abstract
The human serotonin transporter (hSERT) gene is a promising candidate for mediating the genetic susceptibility for various psychiatric conditions such as mood1 and obsessive-compulsive disorders.2 Two polymorphic sites in this gene attracted much interest: a VNTR of 17-bp repeats in intron two,3 and an insertion/deletion in the 5′-flanking promoter region (5-HTT gene-linked polymorphic region-5-HTTLPR)4 creating a short (S) and a long (L) allele. The 5-HTTLPR polymorphism is situated in a GC-rich region composed of 20–23 bp repeating units. The S and L alleles have 14 and 16 repeat-elements respectively. Positive associations of the 5-HTTLPR polymorphism with mood disorders,5 anxiety-related personality traits,6 autism7 and late-onset Alzheimer's8 disease have been published, although some non replications were also reported.9,10 Here we report a novel allele (termed LJ) in the 5-HTTLPR site. This allele is longer than the L allele by 43 bp, has 18 repeat units and contains two copies of the insertion/deletion sequence arranged in tandem. The LJ allele was found in individuals of Libyan and Tunisian Jewish origin but not in Moroccan or Ashkenazi Jews.

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