Evidence Detail for SLC6A4

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Basic Information Top
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
Band: 17q11.2
Quick LinksEntrez ID:6532; OMIM: 182138; Uniprot ID:SC6A4_HUMAN; ENSEMBL ID: ENSG00000108576
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 2 (6) 3 (29) 3 (8) 32 (46)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 26
Case Control Based Association Studies: 3
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
Zhong, 1999_1 USA 1 (detail) 72
- 92
Longo, 2009_1 Brazil 1 (detail) 169
ASD 10.5±5.2
- 179
Tassone, 2011_1 USA 1 (detail) 172
ASD 3.8±0.9
- 137
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Anderson, 2002_1 human blood--AD protein expression
  • Subjects: 31
  • Normal Controls: -
  • Methods: HPLC
  • Evidence Details: the 5-HTTLPR is not a major determinant of the group mean platelet serotonin elevation seen in autism
Sugie, 2005_1 human ---AD genotype-phenotype interaction
  • Subjects: 18
  • Normal Controls: -
  • Methods: PCR-RFLP
  • Evidence Details: Ten out of 18 patients responded to fluvoxamine treatment; allele type analysis revealed that clinical global effectiveness was noted significantly more in the l allele than in the s allele. However, with respect to language use, a significant effectiveness was noted in the s allele.
Sutcliffe, 2005_1 human bloodASD genetics: mutation screen
  • Subjects: 120
  • Normal Controls: -
  • Methods: -
  • Evidence Details: From 120 families, most contributing to linkage at 17q11.2, we found four coding substitutions at highly conserved positions and 15 other variants in 5' noncoding and other intronic regions transmitted in families exhibiting increased rigid-compulsive behaviors. In the aggregate, these variants show significant linkage to and association with autism.
Brune, 2006_1 human bloodAD genetics
  • Subjects: 73(age 3-19 year old)
  • Normal Controls: -
  • Methods: PCR-RFLP
  • Evidence Details: Evidence of genotype-phenotype interactions on the Autism Diagnostic Interview-Revised was found with the 5-HTTLPR short group of HTTLPR (S/L or S/S genotypes) being rated as more severe on the subdomain "failure to use nonverbal communication to regulate social interaction," and the long group (L/L genotype) being more severe on the subdomain "stereotyped and repetitive motor mannerisms" and on an aggression measure.
Wassink, 2007_1 human -AD genotype-phenotype interaction
  • Subjects: 51 UNC participants, 18 to 35 month old; 45 UW participants, 34 to 50 month old (do MRI)
  • Normal Controls: -
  • Methods: Association study of a genetic variantwith quantitative traits, longitudinal brain magnetic resonance imaging
  • Evidence Details: We found that 5-HTTLPR genotype influenced gray matter volumes of the cerebral cortex (F(2,23) = 7.29, P = .004) and of 3 lobe-based subregions in the UNC sample of 29 children (frontal lobe gray matter: F(2,23) = 6.36, P = .01). The 5-HTTLPR short allele appeared to be additively associated with increasing gray matter volumes, an observation affirmed by tests of linear genotype effects (cortical gray matter: F(1,24) = 14.11, P = .001; frontal lobe gray matter: F(1,24) = 13.20, P = .001).
Wendland, 2008_1 human bloodPDD genetics: mutation screen
  • Subjects: 211
  • Normal Controls: 215
  • Methods: PCR-RFLP
  • Evidence Details: SERT I425V was not found in any of the individuals with AS/autism, OCD alone or OCD comorbid with AS and other disorders, or in controls.
Sakurai, 2008_1 human -ASD genetics: mutation screen
  • Subjects: 402 (83% male)
  • Normal Controls: 469
  • Methods: multiplexed variation scan, PCR, direct sequencing
  • Evidence Details: We observed no difference in the frequency of such variants in the two groups. Furthermore, we did not observe an association of rare coding variants in SLC6A4 with rigid-compulsive traits scores in the cases.
Veenstra-Vanderweele, 2009_1 mouse ---- animal model
  • Subjects: -
  • Normal Controls: -
  • Methods: animal model construction
  • Evidence Details: SERT Ala56 mice were achieved and exhibit a normal pattern of transmission. The initial growth and gross morphology of these animals is comparable to wildtype littermate controls. The SERT Ala56 variant can be propagated in 129S6 mice without apparent disruption of fertility and growth.
Endo, 2010_1 human blood or salivaASD protein function
  • Subjects: 26 (5 females, 21 males)
  • Normal Controls: -
  • Methods: 1H-MRS, direct sequencing
  • Evidence Details: Individuals with the S/S genotype of the 5-HTTLPR polymorphism showed significantly lower levels of N-acetylaspartate/creatine in the right medial prefrontal cortex compared with those with the S/L genotype.
Adamsen, 2010_1 human CSFASD protein function
  • Subjects: 1 male
  • Normal Controls: -
  • Methods: mutation screen
  • Evidence Details: the heterozygous Gly56Ala alteration and the homozygous 5-HTTLPR L/L promoter variant relate to low levels of 5HIAA in CSF
Kistner-Griffin, 2010_1 human -autism genetics: association study
  • Subjects: 476 (98 females and 378 males)
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: We found evidence of over-transmission (risk allele short,P=0.012),maternal effects (risk allele long, P=0.035), and parent-of-origin effects (risk allele short from mother, P=0.018) of the 5-HTTLPR variant in the AGRE sample
Arieff, 2010_1 human ---autism genetics: association study
  • Subjects: -
  • Normal Controls: -
  • Methods: -
  • Evidence Details: the first South African study of autistic individuals of different ethnic backgrounds that shows significant differences in allele and genotype frequencies of 5-HTTLPR.
das Neves, 2011_1 human bloodASD genotype-phenotype interaction
  • Subjects: 40 parents of 30 children with autism
  • Normal Controls: 41
  • Methods: PCR
  • Evidence Details: No effects of 5HTTLPR in the ER40 scores were found in the group of relatives of children with autism or in controls
Neale, 2012_1 human bloodASD Mutation screen
  • Subjects: 175 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000008 17q11.2 17 D17S1294 2.85 - - McCauley, 2005
AutLD0000016 17q11.2 17 D17S1800 2.83 - - Yonan, 2003
AutLD0000039 17q11.2 17 HTTINT2 2.34 - - Monaco, 2001
AutLD0000108 17q11.2 17 D17S1294 - 2.39 - Ylisaukko-oja, 2006
AutLD0000118 17q11.2 17 - - 2.1 - Spence, 2006
AutLD0000148 17q11.2 17 D17S1800 5.82 4.88 0.000000159 Sutcliffe, 2005

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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