AutismKB

Detailed Information for 5HTTLPR

Basic Information
SNP Name:5HTTLPR
SNP location:-
Related Gene:SLC6A4
Function:
Related Studies Statistic
FBATCase controlGWAS FBATGWAS case control
21 3 0 0
Low Scale Association Studies
Family Based Association Studies: 21 results 
Transmission Disequilibrium Test (TDT)
Results #Informative Families Alele Name Transmitted (frequency) Non-Transmitted (frequency) P valueStudy Information
- long
short
76 ( - )
72 ( - )
72 ( - )
76 ( - )
0.8Maestrini,1999_1
  • Ancestral: Caucasian
  • Country: UK(mixed)
  • Diagnosis criteria: ADI, VABS, ADOS
  • Final diagnosis: ASD
  • Family : Total Family: 99 Simplex Family: 8 Multiplex Family: 91
  • Affected: All: 192 Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- long
short
- ( - )
- ( - )
- ( - )
- ( - )
0.77Mulder,2005_1
  • Ancestral: Caucasian
  • Country: Holland
  • Diagnosis criteria: DSM-IV-TR, ADI-R, ADOS
  • Final diagnosis: PDD
  • Family : Total Family:
  • Affected: All: 125 Women: - Age: - Age Range: (5-20) IQ:- IQ Range:-
  • Unaffected: All:
- short
long
- ( - )
- ( - )
- ( - )
- ( - )
0.527089Longo,2009_1
  • Ancestral: Caucasian (non-Hispanic)
  • Country: Brazil
  • Diagnosis criteria: DSM-IV-TR, CARS
  • Final diagnosis: ASD
  • Family : Total Family: 105
  • Affected: All: 151 Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- Long
Short
71 ( - )
71 ( - )
71 ( - )
71 ( - )
1Coutinho,2007_1
  • Ancestral: Caucasian
  • Country: Portugal
  • Diagnosis criteria: DSM-IV, ADI-R, CARS, IQ
  • Final diagnosis: AD
  • Family : Total Family: 186 Simplex Family: 186
  • Affected: All: 186 Women: - Age: 6.8 Age Range: (2-18) IQ:- IQ Range:-
  • Unaffected: All:
- Short
Long
45 ( - )
66 ( - )
66 ( - )
45 ( - )
0.046Cho,2007_1
  • Ancestral: Asian
  • Country: Korea
  • Diagnosis criteria: DSM-IV, K-CARS
  • Final diagnosis: ASD
  • Family : Total Family: 126 Simplex Family: 126
  • Affected: All: 126 Women: 17 Age: 6.0 ± 2.6 Age Range: (2.2-15.4) IQ:65.0 ± 27.7 IQ Range:(25-126)
  • Unaffected: All:(25-126)
46 long
short
40 (62.50%)
24 (37.50%)
24 (37.50%)
40 (62.50%)
0.046Tordjman,2001_1
  • Ancestral: Caucasian
  • Country: France
  • Diagnosis criteria: DSM-IV, ICD-10, CFTMEA, ADI-R
  • Final diagnosis: ASD
  • Family : Total Family: 69
  • Affected: All: 71 Women: 25 Age: 11.6 ± 4.5 Age Range: (4.6-19.5) IQ:45.6 ± 4.1 IQ Range:(45-80)
  • Unaffected: All:(45-80)
- long
short
55 ( - )
71 ( - )
71 ( - )
55 ( - )
<0.15Betancur,2002_1
  • Ancestral: Caucasian
  • Country: PARIS
  • Diagnosis criteria: DSM-IV, ADI-R, ICD-10
  • Final diagnosis: AD
  • Family : Total Family: 96 Simplex Family: 53 Multiplex Family: 43
  • Affected: All: 150 Women: 41 Age: 14.5 Age Range: (4-44) IQ:- IQ Range:-
  • Unaffected: All:-
- short
long
43 ( - )
30 ( - )
30 ( - )
43 ( - )
0.007Kim,2002_1
  • Ancestral: Caucasian
  • Country: USA
  • Diagnosis criteria: ADI-R, ADOS, DSM-IV
  • Final diagnosis: AD
  • Family : Total Family: 115 Simplex Family: 108 Multiplex Family: 7
  • Affected: All: 115 Women: 17 Age: 7.1 ± 5.2 Age Range: - IQ:77.9 ± 24.5 IQ Range:-
  • Unaffected: All:-
- long
long
34 ( - )
55 ( - )
55 ( - )
34 ( - )
0.0334Conroy,2004_1
  • Ancestral: Caucasian
  • Country: Ireland
  • Diagnosis criteria: ADI-R, ADOS-G
  • Final diagnosis: ASD
  • Family : Total Family: 84
  • Affected: All: - Women: - Age: - Age Range: - IQ:<35 IQ Range:-
  • Unaffected: All:-
- short
long
22 (0.54%)
19 (0.46%)
19 (0.46%)
22 (0.54%)
0.64Guhathakurta,2006_1
  • Ancestral: Asian
  • Country: India
  • Diagnosis criteria: DSM-IV, CARS
  • Final diagnosis: ASD
  • Family : Total Family: 79
  • Affected: All: 79 Women: - Age: 6.09 ± 3.07 Age Range: - IQ:- IQ Range:-
  • Unaffected: All:
- long
short
79 ( - )
88 ( - )
88 ( - )
79 ( - )
0.4862Coutinho,2004_1
  • Ancestral: Caucasian
  • Country: Portugal
  • Diagnosis criteria: DSM-IV ADI-R, CARS,
  • Final diagnosis: ASD
  • Family : Total Family: 105
  • Affected: All: - Women: - Age: - Age Range: (2-14) IQ:- IQ Range:-
  • Unaffected: All:
- long
short
29 ( - )
48 ( - )
48 ( - )
29 ( - )
0.03Cook,1997_1
  • Ancestral: Mixed
  • Country: USA
  • Diagnosis criteria: ADI-R, ADOS
  • Final diagnosis: AD
  • Family : Total Family: 86 Simplex Family: 86
  • Affected: All: 86 Women: 6 Age: 8.5 ± 7.6 Age Range: (2.5-36) IQ:>35 IQ Range:-
  • Unaffected: All:-
- long
short
40 ( - )
23 ( - )
23 ( - )
40 ( - )
0.032Klauck,1997_1
  • Ancestral: Caucasian
  • Country: Germany, Austria
  • Diagnosis criteria: German Version of ADI-R, DSM-IV, ICD-10, ADOS
  • Final diagnosis: ASD
  • Family : Total Family: 98 Simplex Family: 88 Multiplex Family: 10
  • Affected: All: 109 Women: - Age: 15.5 ± 8.6 Age Range: (3.5-37.3) IQ:68 ± 25 IQ Range:(27-129)
  • Unaffected: All:-
- short
long
221 ( - )
237 ( - )
237 ( - )
278 ( - )
0.01McCauley,2004_1
  • Ancestral: Caucasian
  • Country: NEMC, AGRE
  • Diagnosis criteria: ADI, ADI-R, ADOS
  • Final diagnosis: AD
  • Family : Total Family: 137 Multiplex Family: 137
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- long
short
545 ( - )
585 ( - )
585 ( - )
545 ( - )
-Sutcliffe,2005_1
  • Ancestral: Caucasian
  • Country: AGRE, USA
  • Diagnosis criteria: ADI
  • Final diagnosis: ASD
  • Family : Total Family: 384 Simplex Family: 43 Multiplex Family: 341
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
- short
long
- ( - )
- ( - )
- ( - )
- ( - )
0.53Persico,2000_1
  • Ancestral: Caucasian
  • Country: Italy, USA
  • Diagnosis criteria: DSM-IV, CARS,VABS
  • Final diagnosis: AD
  • Family : Total Family: 91 Simplex Family: 86 Multiplex Family: 5
  • Affected: All: 98 Women: 8 Age: - Age Range: (3-15) IQ:- IQ Range:-
  • Unaffected: All:
- short
long
25 ( - )
11 ( - )
11 ( - )
25 ( - )
0.025Yirmiya,2001_1
  • Ancestral: Asian
  • Country: Israel
  • Diagnosis criteria: DSM-III-R, DSM-IV, ADI-R, VABS
  • Final diagnosis: AD
  • Family : Total Family: 34
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
OTHERS
Results Alele 1 Alele 2 Statistic Method P value Study Information
- -PDT -Ma,2009_1
  • Ancestral: Caucasian (non-Hispanic)
  • Country:
  • Diagnosis criteria: DSM-IV,ADI-R
  • Final diagnosis: autism
  • Family : Total Family: 290
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
long shortothers 0.5Persico,2002_1
  • Ancestral: Caucasian
  • Country: Italy
  • Diagnosis criteria: DSM-IV, CARS,VABS
  • Final diagnosis: AD
  • Family : Total Family: 156 Simplex Family: 151 Multiplex Family: 5
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
short longPDT 1Guerini,2006_1
  • Ancestral: Caucasian
  • Country: Italy
  • Diagnosis criteria: DSM-IV, VABS
  • Final diagnosis: ASD
  • Family : Total Family: 37 Simplex Family: 34 Multiplex Family: 3
  • Affected: All: 40 Women: 12 Age: 9 ± 5 Age Range: - IQ:- IQ Range:-
  • Unaffected: All:
short longothers -Devlin,2005_1
  • Ancestral: Caucasian
  • Country: CPEA
  • Diagnosis criteria: DSM-IV, ADI-R, ADOS
  • Final diagnosis: ASD
  • Family : Total Family: 390 Simplex Family: 147 Multiplex Family: 160
  • Affected: All: - Women: - Age: - Age Range: - IQ:- IQ Range:-
  • Unaffected: All:-
Case-Control Based Association Studies: 3 results 
Results Alele Type Genotype P value Study Information
Allele 1 Allele 2 Allele 1/Allele 1 Allele 1/Allele 2 Allele 2/Allele 2

ASD
CTR
long
85 (59.00%)
100 (54.30%)
short
59 (41.00%)
84 (45.70%)
long/long
32 (44.40%)
28 (30.40%)
long/short
31 (43.10%)
44 (47.80%)
short/short
9 (12.50%)
20 (21.70%)
0.21Zhong,1999_1
  • Ancestral: Mixed
  • Country: USA
  • Diagnosis criteria: DSM-IV
  • Final diagnosis: ASD
  • Case description: People:72
  • Control description: People: 92

ASD
CTR
short
134 (44.00%)
163 (45.00%)
long
168 (56.00%)
195 (55.00%)
short/short
33 (21.80%)
40 (22.30%)
short/long
68 (45.10%)
83 (46.50%)
long/long
50 (33.10%)
56 (31.20%)
0.765Longo,2009_1
  • Ancestral: mixed
  • Country: Brazil
  • Diagnosis criteria: DSM-IV-TR, CARS
  • Final diagnosis: ASD
  • Case description: People:169 Women: 38
  • Age: 10.5 ± 5.2
  • Control description: People: 179 Women: 77

ASD
CTR
L
185 (53.78%)
149 (54.40%)
S
159 (46.22%)
125 (45.60%)
L/L
48 (27.90%)
44 (32.10%)
L/S
89 (51.70%)
61 (44.50%)
S/S
35 (20.40%)
32 (23.40%)
0.45Tassone,2011_1
  • Ancestral: mixed
  • Country: USA
  • Diagnosis criteria: ADIR, ADOS
  • Final diagnosis: ASD
  • Case description: People:172 Women: 0
  • Age: 3.8 ± 0.9
  • Control description: People: 137 Women: 0
  • Age: 3.4 ± 0.8
Genome-Wide Association Studies
Family Based Association Studies: 0 results 
Case-Control Based Association Studies: 0 results 

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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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