Table 3.
Association between specific haplotypes mapping to 22q11.2 and cognitive performance on BACS in patients with schizophrenia.
| Covariates |
Sex/Age/education/premorbid IQ |
Sex/Age/education/premorbid IQ /PANSS |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | Haplotype | Specific Haplotype | Freq | β | t | P-value | Freq | β | t | P-value | |
| Digit sequence |
CDC45 |
rs5748239–rs5748240–rs2073734–rs2073733 |
A–G–C–A | 0.215 | 0.0506 | 0.597 | 0.978 | 0.215 | 0.0451 | 0.528 | 0.9868 |
| A–G–G–G | 0.0771 | 0.267 | 6.6 | 0.1173 | 0.0771 | 0.265 | 7.27 | 0.08379 | |||
| G–A–C–G | 0.25 | 0.103 | 2.7 | 0.5887 | 0.25 | 0.0724 | 1.48 | 0.8513 | |||
| G–G–C–G | 0.132 | 0.0362 | 0.216 | 0.9986 | 0.132 | 0.0308 | 0.176 | 0.9994 | |||
| A–G–C–G |
0.325 |
–0.244 |
17.3 |
0.0009 |
0.325 |
–0.208 |
13.8 |
0.0029 |
|||
| Token motor |
TBX1 |
rs2238777–rs4819522–rs5746826 |
A–G–C | 0.416 | –0.131 | 3.26 | 0.3236 | 0.416 | –0.109 | 2.84 | 0.3807 |
| G–G–C | 0.0467 | 0.783 | 21.3 | 0.0002 | 0.0467 | 0.594 | 14.7 | 0.0008 | |||
| G–A–A | 0.0854 | –0.195 | 2.33 | 0.491 | 0.0854 | –0.0964 | 0.705 | 0.8994 | |||
| A–G–A | 0.0592 | 0.0884 | 0.334 | 0.9699 | 0.0592 | 0.149 | 1.16 | 0.7797 | |||
| G–G–A |
0.393 |
0.0435 |
0.333 |
0.9703 |
0.393 |
0.00837 |
0.0155 |
1 |
|||
| Symbol coding |
CLTCL1 |
rs3761407–rs735369 |
A–G | 0.314 | –0.17 | 11.4 | 0.0107 | 0.314 | –0.139 | 9.38 | 0.0262 |
| C–C |
0.682 |
0.166 |
10.9 |
0.0134 |
0.682 |
0.14 |
9.56 |
0.0245 |
|||
|
HIRA |
rs2238765–rs2283652 |
A–A | 0.343 | 0.114 | 5.38 | 0.1716 | 0.343 | 0.11 | 6.16 | 0.1168 | |
| G–G | 0.109 | –0.213 | 7.65 | 0.0596 | 0.109 | –0.209 | 9.28 | 0.0274 | |||
| A–G |
0.548 |
–0.0268 |
0.309 |
0.9937 |
0.548 |
–0.0224 |
0.267 |
0.9961 |
|||
|
UFD1L |
rs2238769–rs5746742 |
C–A | 0.294 | 0.113 | 4.86 | 0.2555 | 0.294 | 0.116 | 6.34 | 0.1306 | |
| G–G | 0.317 | –0.174 | 12.7 | 0.0068 | 0.317 | –0.142 | 10.4 | 0.02 | |||
| C–G |
0.39 |
0.0602 |
1.63 |
0.8215 |
0.39 |
0.0307 |
0.522 |
0.9877 |
|||
| TBX1 | rs2238777–rs4819522 |
G–A | 0.0854 | –0.339 | 16 | 0.0006 | 0.0854 | –0.277 | 13.1 | 0.0034 | |
| A–G | 0.475 | –0.00777 | 0.0259 | 0.9999 | 0.475 | 0.0157 | 0.133 | 0.9944 | |||
| G–G |
0.44 |
0.116 |
5.66 |
0.1012 |
0.44 |
0.0718 |
2.64 |
0.4438 |
|||
| rs4819522–rs5746826 |
G–C | 0.462 | 0.0238 | 0.233 | 0.9864 | 0.462 | 0.0167 | 0.143 | 0.9938 | ||
| A–A | 0.0854 | –0.339 | 16 | 0.0006 | 0.0854 | –0.277 | 13.1 | 0.0034 | |||
| G–A |
0.452 |
0.087 |
3.04 |
0.3561 |
0.452 |
0.0729 |
2.68 |
0.4368 |
|||
| rs2238777–rs4819522–rs5746826 | A–G–C | 0.416 | –0.037 | 0.553 | 0.9333 | 0.416 | –0.0209 | 0.22 | 0.9863 | ||
| G–G–C | 0.0467 | 0.36 | 9.22 | 0.0167 | 0.0467 | 0.226 | 4.39 | 0.184 | |||
| G–A–A | 0.0854 | –0.339 | 16 | 0.0006 | 0.0854 | –0.277 | 13.1 | 0.0034 | |||
| A–G–A | 0.0592 | 0.125 | 1.46 | 0.7067 | 0.0592 | 0.17 | 3.27 | 0.3295 | |||
| G–G–A | 0.393 | 0.0607 | 1.4 | 0.7235 | 0.393 | 0.0366 | 0.637 | 0.9138 | |||
Estimated frequencies, β values and P-values for specific haplotypes were calculated, when an omnibus P-value for a constructed haplotype was significant (P<0.00833). Associations between specific haplotypes and the BACS z-scores were assessed after adjustment for two alternative sets of covariates using a linear regression model implemented in PLINK version 1.0.7. P-values < 0.0083 (0.05/6) were considered as statistically significant to correct for the number of BACS-J subtests. Statistically significant results are marked with bold letters.