BACKGROUND: The serotonin transporter (5-HTT) has long been considered likely to play a role in autism. Hyperserotonemia has been consistently found in a proportion of autistic patients, and the use of selective serotonin reuptake inhibitors (SSRIs) can have a positive effect in treating some symptoms of autism. Specific variants of the 5-HTT gene, SLC6A4, especially the insertion-deletion 5-HTTLPR promoter locus, have been found to modulate its expression and transporter function. METHODS: We examined the transmission of the short or long allele of 5-HTTLPR locus to affected individuals, using a large cohort of 352 families. In addition, we screened five single nucleotide polymorphisms (SNPs) in the 5' region of SLC6A4 previously reported to be positively associated with autism, as well as 4 additional SNPs also in the 5' region. RESULTS: No association of the 5-HTTLPR locus with autism was found. Furthermore, no evidence for association of any of the nine SNPs covering the SLC6A4 gene, or any of their haplotypes, was observed in our study. Using obsessive-compulsive behaviors (OCB), severe OCBs or rigid-compulsive subsets of our cohort gave the same negative results. CONCLUSIONS: SLC6A4 variants do not appear to be significantly involved in the liability to autism.
BACKGROUND: The serotonin transporter (5-HTT) has long been considered likely to play a role in autism. Hyperserotonemia has been consistently found in a proportion of autisticpatients, and the use of selective serotonin reuptake inhibitors (SSRIs) can have a positive effect in treating some symptoms of autism. Specific variants of the 5-HTT gene, SLC6A4, especially the insertion-deletion 5-HTTLPR promoter locus, have been found to modulate its expression and transporter function. METHODS: We examined the transmission of the short or long allele of 5-HTTLPR locus to affected individuals, using a large cohort of 352 families. In addition, we screened five single nucleotide polymorphisms (SNPs) in the 5' region of SLC6A4 previously reported to be positively associated with autism, as well as 4 additional SNPs also in the 5' region. RESULTS: No association of the 5-HTTLPR locus with autism was found. Furthermore, no evidence for association of any of the nine SNPs covering the SLC6A4 gene, or any of their haplotypes, was observed in our study. Using obsessive-compulsive behaviors (OCB), severe OCBs or rigid-compulsive subsets of our cohort gave the same negative results. CONCLUSIONS:SLC6A4 variants do not appear to be significantly involved in the liability to autism.
Authors: Flora Tassone; Lihong Qi; Wenting Zhang; Robin L Hansen; Isaac N Pessah; Irva Hertz-Picciotto Journal: Autism Res Date: 2011-04-29 Impact factor: 5.216
Authors: B M Anderson; N C Schnetz-Boutaud; J Bartlett; A M Wotawa; H H Wright; R K Abramson; M L Cuccaro; J R Gilbert; M A Pericak-Vance; J L Haines Journal: Neurogenetics Date: 2009-01-28 Impact factor: 2.660
Authors: Soo-Jeong Kim; Camille W Brune; Emily O Kistner; Susan L Christian; Eric H Courchesne; Nancy J Cox; Edwin H Cook Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2008-10-05 Impact factor: 3.568
Authors: Takeshi Sakurai; Jennifer Reichert; Ellen J Hoffman; Guiqing Cai; Hywel B Jones; Malek Faham; Joseph D Buxbaum Journal: Autism Res Date: 2008-08 Impact factor: 5.216
Authors: Naomi R Wray; Michael R James; Scott D Gordon; Troy Dumenil; Leanne Ryan; William L Coventry; Dixie J Statham; Michele L Pergadia; Pamela A F Madden; Andrew C Heath; Grant W Montgomery; Nicholas G Martin Journal: Biol Psychiatry Date: 2009-06-21 Impact factor: 13.382