RGD Reference Report - Transmission disequilibrium mapping at the serotonin transporter gene (SLC6A4) region in autistic disorder. - Rat Genome Database

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Transmission disequilibrium mapping at the serotonin transporter gene (SLC6A4) region in autistic disorder.

Authors: Kim, SJ  Cox, N  Courchesne, R  Lord, C  Corsello, C  Akshoomoff, N  Guter, S  Leventhal, BL  Courchesne, E  Cook EH, JR 
Citation: Kim SJ, etal., Mol Psychiatry. 2002;7(3):278-88.
RGD ID: 9831148
Pubmed: PMID:11920155   (View Abstract at PubMed)
DOI: DOI:10.1038/sj.mp.4001033   (Journal Full-text)

The serotonin transporter gene (SLC6A4, MIM 182138) is a candidate gene in autistic disorder based on neurochemical, neuroendocrine studies and the efficacy of potent serotonin transporter inhibitors in reducing ritualistic behaviors and related aggression. An insertion/deletion polymorphism (5-HTTLPR) in the promoter region and a variable number of tandem repeat polymorphism (VNTR) in the second intron, were previously identified and suggested to modulate transcription. Six previous family-based association studies of SLC6A4 in autistic disorder have been conducted, with four studies showing nominally significant transmission disequilibrium and two studies with no evidence of nominally significant transmission disequilibrium. In the present study, TDT was conducted in 81 new trios. A previous finding of transmission disequilibrium between a haplotype consisting of the 5-HTTLPR and intron 2 VNTR was replicated in this study, but not preferential transmission of 5-HTTLPR as an independent marker. Because of inconsistent transmission of 5-HTTLPR across studies, SLC6A4 and its flanking regions were sequenced in 10 probands, followed by typing of 20 single nucleotide polymorphisms (SNPs) and seven simple sequence repeat (SSR) polymorphisms in 115 autism trios. When individual markers were analyzed by TDT, seven SNP markers and four SSR markers (six SNPs, 5-HTTLPR and the second intron VNTR from promoter 1A through intron 2 of SLC6A4, one SSR from intron 7 of SLC6A4, one SNP from the bleomycin hydrolase gene (BLMH, MIM 602403) and one SSR telomeric to BLMH) showed nominally significant evidence of transmission disequilibrium. Four markers showed stronger evidence of transmission disequilibrium (TDT(max) P = 0.0005) than 5-HTTLPR.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autistic disorder  IAGP 9831148DNA:mutations:multiple (human)RGD 
autistic disorder  ISOSLC6A4 (Homo sapiens)9831148; 9831148DNA:mutations:multiple (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Slc6a4  (solute carrier family 6 member 4)

Genes (Mus musculus)
Slc6a4  (solute carrier family 6 (neurotransmitter transporter, serotonin), member 4)

Genes (Homo sapiens)
SLC6A4  (solute carrier family 6 member 4)


Additional Information