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Based upon the studies implicating mitochondrial dysfunction in psychiatric disorders, the present study measured mtDNA variants in brain tissue, including substitutions, synonymous and non-synonymous, and rare variants, which could predispose to BD, MDD, and SZ.
Larger cohorts will also help to identify common variants which could influence the outcome of other variants such as CNVs.
If there were several different variants which could act together in this way then they could well be overlooked completely.
Apparent low frequency variants, which could be either true low frequency alleles or sequencing errors, are irrelevant in a windowed analysis of pooled samples, and were not resolved.
A total of 8,840 CNVRs were identified, and most of them were novel variants which could enrich the current CNV database.
Other common risk alleles are likely to exist at the same genetic loci (including the causal variants), which could provide additional information relevant to prediction.
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Conversely, no significant anomaly was found in the T-GBM variant, which could indicate the absence or low magnitude of galactosylation defects (not significant) or another yet unidentified defect.
The quantity a j is a continuous weighting function for the jth variant which could, for example, allow for Madsen and Browning weights [ 21].
We then analysed the variability of the charge of each LBR variant, which could be another key indicator of functional changes, because differences in protein charge could influence the ability to bind ligands [ 41, 65].
Studies have however reported inconsistent results for the rs25487 risk variant, which could be attributable to investigations in different patient groups with different therapy regimens or focus on patient subgroups like those with metastatic breast cancer.
For rs2069391 in CDK2 variant, which could not be genotyped in the replication set in this study (discovery set log-additive OR 1.36, CI 1.03 1.78), imputation revealed a signal in the earlier combined analysis (log-additive OR 1.21, CI 1.01 2.09), which included five of the six populations in this study (Goode et al, 2009).
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