Table 2 Selected SNPs (based on location within gene encoding protein of known function or disease association) showing suggestive association with TdT analysis (p < 0.0001) to BD in our validation dataset (small family cohort)
Chr | SNP | bp | A1/A2 | T/UT | TDT OR | P value | Chisq | Gene | Comments/MIM # |
|---|---|---|---|---|---|---|---|---|---|
1 | rs575056 | 66522367 | C/T | 49/96 | 0.5104 | 9.5E-05 | 15.23 | PDE4B | Protein interacts with DISC1, and is considered a candidate gene for BD and SCZ; MIM 600127 |
1 | rs538336 | 66545251 | G/A | 63/116 | 0.5431 | 7.45E-05 | 15.69 | PDE4B | MIM 600127 |
6 | rs2852571 | 102108785 | T/G | 96/47 | 2.043 | 4.18E-05 | 16.79 | GRIK2 | Kainate glutamate receptor; homozygous mutations are associated with intellectual disability; MIM 138244 |
10 | rs7074934 | 26571676 | G/A | 4/28 | 0.1429 | 2.21E-05 | 18 | GAD2 | Glutamate decarboxylase, responsible for converting L-glutamic acid to GABA; MIM 138275 |
10 | rs17647803 | 83730201 | G/A | 11/45 | 0.2444 | 5.53E-06 | 20.64 | NRG3 | Member of neuregulin gene family, associated with BD and SCZ; MIM 605533 |
11 | rs1893050 | 84305742 | C/T | 3/24 | 0.125 | 5.31E-05 | 16.33 | DLG2 | Post-synaptic density protein; MIM 603583 |
12 | rs11065615 | 109214996 | T/C | 2/23 | 0.08696 | 2.67E-05 | 17.64 | ATP2A2 | MIM 107840; Mutations in this gene cause Darier disease (MIM 124200) |
15 | rs140673 | 25155075 | C/A | 8/35 | 0.2286 | 3.83E-05 | 16.95 | GABRG3 | GABA-A receptor; MIM 600233 |
16 | rs7186123 | 81379253 | G/T | 20/54 | 0.3704 | 7.74E-05 | 15.62 | CDH13 | Cadherin gene associated with autism, also alcohol dependency; MIM 601364 |