Background
Methods
Subjects
Clinical assessment
SNP selection and genotyping
Statistical analyses
Results
Clinical characteristics
Association between the SNPs and ASD risk
SNP ID | Gene | Genomic position (bp) | Genic position | Reference allele a | Call rate % | MAF b | HWE b (p) |
---|---|---|---|---|---|---|---|
rs174546
|
FADS1
| 61,802,358 | 3’UTR | C | 98.6 | 0.322 | 0.958 |
rs2845573
|
FADS2
| 61,834,436 | intron | A | 98.8 | 0.071 |
< 0.001*
|
rs174585
|
FADS2
| 61,844,222 | intron | G | 99.8 | 0.091 | 0.786 |
rs174593
|
FADS2
| 61,851,359 | intron | T | 100.0 | 0.095 | 1.000 |
rs174602
|
FADS2
| 61,856,942 | intron | T | 98.3 | 0.241 | 0.455 |
rs498793
|
FADS2
| 61,857,233 | intron | T | 99.0 | 0.075 | 0.266 |
rs526126
|
FADS2
| 61,857,413 | intron | C | 96.7 | 0.428 | 0.175 |
rs174616
|
FADS2
| 61,861,650 | intron | G | 99.8 | 0.152 | 0.994 |
rs17606561
|
ELOVL2
| 10,982,126 | 3’UTR | G | 99.8 | 0.215 | 0.580 |
rs2236212
|
ELOVL2
| 10,994,782 | intron | C | 98.1 | 0.332 | 1.000 |
rs3798712
|
ELOVL2
| 11,007,869 | intron | A | 98.8 | 0.233 | 0.912 |
rs953413
|
ELOVL2
| 11,012,626 | intron | A | 97.9 | 0.095 | 0.186 |
rs3756963
|
ELOVL2
| 11,021,921 | intron | T | 99.7 | 0.229 | 0.492 |
rs10498676
|
ELOVL2
| 11,026,766 | intron | G | 98.1 | 0.450 | 0.100 |
rs6936315
|
ELOVL2
| 11,035,739 | intron | T | 98.8 | 0.288 | 1.000 |
rs9468304
|
ELOVL2
| 11,041,932 | intron | A | 99.8 | 0.320 | 0.408 |
SNPs | Allele (major:minor) | Control (243) | Case (243) | OR(95%CI) |
p
|
p
FDR
| ||
---|---|---|---|---|---|---|---|---|
major | minor | major | minor | |||||
rs174546
| C:T | 324(67.8) | 154(32.2) | 328(68.3) | 152(31.7) | 0.98(0.75–1.29) | 0.855 | 0.916 |
rs174585
| G:A | 440(90.9) | 44(9.1) | 452(93.0) | 34(7.0) | 0.75(0.47–1.20) | 0.230 | 0.493 |
rs498793
| C:T | 444(92.5) | 36(7.5) | 444(92.1) | 38(7.9) | 1.07(0.66–1.72) | 0.823 | 1.029 |
rs174602
| T:C | 360(75.9) | 114(24.1) | 375(77.5) | 109(22.5) | 0.94(0.70–1.28) | 0.575 | 0.958 |
rs174593
| T:C | 440(90.5) | 46(9.5) | 451(92.8) | 35(7.2) | 0.73(0.46–1.16) | 0.202 | 0.505 |
rs526126
| C:G | 275(56.6) | 211(43.4) | 315(69.4) | 139(30.6) | 0.55(0.42–0.72) |
< 0.001
|
< 0.05*
|
rs174616
| G:A | 412(84.8) | 74(15.2) | 414(85.5) | 70(14.5) | 0.93(0.65–1.33) | 0.738 | 1.107 |
rs17606561
| G:A | 380(78.5) | 104(21.5) | 360(74.1) | 126(25.9) | 1.31(0.97–1.77) | 0.104 | 0.390 |
rs2236212
| C:G | 318(66.8) | 158(33.2) | 317(66.3) | 161(33.7) | 1.01(0.77–1.32) | 0.873 | 0.873 |
rs3798712
| A:G | 365(76.7) | 111(23.3) | 374(77.3) | 110(22.7) | 0.94(0.69–1.27) | 0.828 | 0.955 |
rs953413
| A:G | 436(90.5) | 46(9.5) | 415(88.3) | 55(11.7) | 1.28(0.84–1.93) | 0.280 | 0.525 |
rs3756963
| T:C | 373(77.1) | 111(22.9) | 354(72.8) | 132(27.2) | 1.28(0.96–1.72) | 0.129 | 0.387 |
rs10498676
| G:A | 263(55.0) | 215(45.0) | 289(60.7) | 187(39.3) | 0.79(0.61–1.02) | 0.075 | 0.375 |
rs6936315
| T:C | 339(71.2) | 137(28.8) | 349(72.1) | 135(27.9) | 0.92(0.70–1.23) | 0.760 | 1.036 |
rs9468304
| A:G | 329(68.0) | 155(32.0) | 299(61.5) | 187(38.5) | 1.37(1.05–1.79) |
0.035
| 0.263 |
SNPs | Model | genotype | Control (243) | Case (243) | OR (95% CI) |
p
|
p
FDR
|
---|---|---|---|---|---|---|---|
rs174546
| overdominant | C/C-T/T | 133 (55.6) | 136 (56.7) | 1.00 | 0.82 | 0.82 |
T/C | 106 (44.4) | 104 (43.3) | 0.96 (0.67–1.38) | ||||
rs174585
| dominant | G/G | 199 (82.2) | 210 (86.4) | 1.00 | 0.2 | 0.375 |
A/G-A/A | 43 (17.8) | 33 (13.6) | 0.73 (0.44–1.19) | ||||
rs498793
| overdominant | C/C-T/T | 210 (87.5%) | 207 (85.9%) | 1.00 | 0.6 | 0.75 |
T/C | 30 (12.5%) | 34 (14.1%) | 1.15 (0.68–1.95) | ||||
rs174602
| overdominant | T/T-C/C | 145 (61.2) | 157 (64.9) | 1.00 | 0.4 | 0.667 |
C/T | 92 (38.8) | 85 (35.1) | 0.85 (0.59–1.24) | ||||
rs174593
| recessive | T/T-C/T | 241 (99.2) | 243 (100) | 1.00 | 0.095 | 0.204 |
C/C | 2 (0.8) | 0 (0) | NA | ||||
rs526126
| recessive | C/C-G/C | 203 (83.5) | 224 (98.7) | 1.00 |
< 0.0001
|
< 0.01*
|
G/G | 40 (16.5) | 3 (1.3) |
0.07 (0.02–0.22)
| ||||
rs174616
| overdominant | G/G-A/A | 181 (74.5) | 188 (77.7) | 1.00 | 0.41 | 0.615 |
A/G | 62 (25.5) | 54 (22.3) | 0.84 (0.55–1.27) | ||||
rs17606561
| overdominant | G/G-A/A | 164 (67.8) | 137 (56.4) | 1.00 |
0.0096
|
0.036*
|
A/G | 78 (32.2) | 106 (43.6) |
1.63 (1.12–2.36)
| ||||
rs2236212
| recessive | C/C-G/C | 212 (89.1) | 210 (87.9) | 1.00 | 0.68 | 0.729 |
G/G | 26 (10.9) | 29 (12.1) | 1.13 (0.64–1.98) | ||||
rs3798712
| overdominant | A/A-G/G | 151 (63.5) | 160 (66.1) | 1.00 | 0.54 | 0.736 |
G/A | 87 (36.5) | 82 (33.9) | 0.89 (0.61–1.29) | ||||
rs953413
| recessive | A/A-G/A | 241 (100) | 232 (98.7) | 1.00 | 0.039 | 0.098 |
G/G | 0 (0) | 3 (1.3) | NA | ||||
rs3756963
| overdominant | T/T-C/C | 161 (66.5) | 133 (54.7) | 1.00 |
0.0078
|
0.039*
|
C/T | 81 (33.5) | 110 (45.3) |
1.64 (1.14–2.37)
| ||||
rs10498676
| recessive | G/G-A/G | 184 (77) | 204 (85.7) | 1.00 |
0.014
|
0.042*
|
A/A | 55 (23) | 34 (14.3) |
0.56 (0.35–0.89)
| ||||
rs6936315
| overdominant | T/T-C/C | 141 (59.2) | 149 (61.6) | 1.00 | 0.6 | 0.692 |
C/T | 97 (40.8) | 93 (38.4) | 0.91 (0.63–1.31) | ||||
rs9468304
| overdominant | A/A-G/G | 143 (59.1) | 110 (45.3) | 1.00 |
0.0023
|
0.017*
|
G/A | 99 (40.9) | 133 (54.7) |
1.75 (1.22–2.50)
|
Haplotype analysis
No. | Haplotype | Case ratio (243) | Control ratio (243) |
p
| OR (95 CI) |
---|---|---|---|---|---|
FADS1–2
| |||||
1 | GT a | 0.926 | 0.903 | 0.207 | 1.00 |
2 | AC a | 0.068 | 0.089 | 0.232 | 0.74(0.45–1.20) |
ELOVL2
| |||||
1 | GCAATA b | 0.380 | 0.439 | 0.057 | 1.00 |
2 | ACAACG b | 0.253 | 0.203 | 0.066 | 1.46(1.04–2.05) |
3 | GGGATG b | 0.216 | 0.230 | 0.640 | 1.10(0.80–1.52) |
4 | GGAGTG b | 0.116 | 0.087 | 0.161 | 1.57(0.99–2.47) |
5 | GCAACG b | 0.010 | 0.017 | 0.404 | 0.72(0.23–2.25) |
Association between genotype and ASD symptoms
Items | n | G/G-A/G | A/A |
F
|
p
|
---|---|---|---|---|---|
ADI-R social | 163 | 23.04±4.61 | 21.56±5.66 | 4.601 | 0.033 |
ADI-R comm-V | 117 | 17.82±3.29 | 15.58±3.91 |
9.221
|
0.003*
|
ADI-R comm-NV | 163 | 11.36±2.61 | 9.96±3.52 |
8.814
|
0.003*
|
ADI-R RR | 163 | 5.43±2.77 | 6.04±2.89 | 0.335 | 0.564 |
ADOS-CSS | 160 | 6.82±1.44 | 6.92±1.41 | 0.110 | 0.740 |
SA-CSS | 160 | 7.16±1.57 | 7.27±1.49 | 0.113 | 0.737 |
RRB-CSS | 160 | 6.39±1.88 | 6.38±1.77 | 0.000 | 0.993 |