|
Polymorphism
|
Genotype distribution (Genotype frequency)
|
MAF (Allele)
|
|---|
|
HTTLPR triallelic
1
|
ss
|
sl
|
ll
| Â |
|
ASD
|
24 (0.316)
|
38 (0.500)
|
14 (0.184)
|
0.434 (l)
|
|
Siblings
|
16 (0.208)
|
43 (0.558)
|
18 (0.234)
|
0.487 (s)
|
|
Controls
|
22 (0.248)
|
51 (0.526)
|
24 (0.247)
|
0.490 (s)
|
|
HTR2A
rs6311
2
|
GG
|
GA
|
AA
|
A
|
|
ASD
|
21 (0.276)
|
34 (0.447)
|
21 (0.276)
|
0.500
|
|
Siblings
|
23 (0.295)
|
35 (0.449)
|
20 (0.256)
|
0.481
|
|
Controls
|
29 (0.299)
|
47 (0.485)
|
21 (0.216)
|
0.459
|
|
OXTR
rs2301261
|
CC
|
CT
|
TT
|
T
|
|
ASD
|
65 (0.855)
|
11 (0.145)
|
0
|
0.072
|
|
Siblings
|
67 (0.859)
|
11 (0.141)
|
0
|
0.071
|
|
Controls
|
84 (0.848)
|
15 (0.152)
|
0
|
0.076
|
|
OXTR
rs53576
1
|
AA
|
AG
|
GG
|
A
|
|
ASD
|
7 (0.092)
|
34 (0.447)
|
35 (0.461)
|
0.316
|
|
Siblings
|
7 (0.091)
|
37 (0.481)
|
33 (0.429)
|
0.331
|
|
Controls
|
9 (0.093)
|
33 (0.340)
|
55 (0.567)
|
0.263
|
|
OXTR
rs2254298
|
AA
|
AG
|
GG
|
A
|
|
ASD
|
0
|
12 (0.158)
|
64 (0.842)
|
0.079
|
|
Siblings
|
0
|
13 (0.167)
|
65 (0.833)
|
0.083
|
|
Controls
|
0
|
21 (0.212)
|
78 (0.788)
|
0.106
|
|
OXTR
rs2268494
|
AA
|
AT
|
TT
|
A
|
|
ASD
|
0
|
13 (0.171)
|
63 (0.829)
|
0.086
|
|
Siblings
|
1 (0.013)
|
9 (0.115)
|
68 (0.872)
|
0.071
|
|
Controls
|
0
|
17 (0.172)
|
82 (0.828)
|
0.086
|
- Abbreviations: ASD autism spectrum disorder, OXTR oxytocin receptor, HTR2A serotonin receptor 2A, HTTLPR serotonin-transporter–linked polymorphic region, MAF minor allele frequency. 1Genotyping failed repeatedly for one sibling and two controls. 2Genotyping failed repeatedly for two controls.