Table 3. Results of the segregation analysis of sequence variants in pedigree 1 as well as brain expression of the implicated genes and data from the NPL analyses.
| Pedigree 1 | NPL | ||||||
|---|---|---|---|---|---|---|---|
| Gene | Codon change | BD n = 5 | Other psychiatric disorders n = 1 | Unaffected n = 3 | Expression RPKM | exLOD | p-value |
| TMEM220 | C > A | 5 | 1 | 2 | 0.98 | 1.08 | 0.01 |
| SERPING1 | C > T | 4 | 0 | 1 | 8.11 | 0.02 | 0.37 |
Information on genotypes at variant sites for relatives in pedigree 1. Individuals related by marriage only were excluded.
N, total number of individuals within each phenotype group. Numbers indicate how often the variants were found in the tested family members, as categorized according to phenotype. BD, Bipolar disorder types: BD I; BD II; and BD not otherwise specified. Other psychiatric disorders: recurrent major depressive disorder (MDD); MDD single episode; and alcohol abuse. Unaffected: healthy individuals; NPL, non-parametric linkage using the NPLall Z-score statistics; exLOD, logarithm of the odds (exponential model); p-value, probability of exLOD. Bold formatting indicates Reads Per Kilobase Million (RPKM) ≥ 0.1.