Table 1.
Phenotype | Tissue | Parameters assessed | Main finding | Reference |
---|---|---|---|---|
Schizophrenia | Peripheral blood | Singe nucleotide polymorphisms (genotyping assay) | Rare Val286Ile missense mutation in exon 6 detected in a patient with schizophrenia | [56] |
Bipolar disorder | Peripheral blood | Singe nucleotide polymorphisms (genotyping assay) |
Significant allelic association between several SNPs and bipolar disorder: rs1722550 (P = 0.019), rs1701946 (P = 0.018), rs1612902 (P = 0.002), rs1701946 plus rs1612902 (P = 0.0068) |
[56] |
Depression | Peripheral blood | Expression levels (mRNA) of KLK8 (RT-PCR), patients diagnosed with major recurrent depression and first episode depression | Higher KLK8 expression in patients with recurrent depression compared to first episode patients | [64] |
Peripheral blood | Expression levels (mRNA) of KLK8 (RT-PCR), patients diagnosed with major recurrent depression and healthy subjects | Higher KLK8 expression in patients with depression compared to controls | [63] | |
Peripheral blood | Methylation levels of KLK8 (450 K methylation array), depression symptomatology score in monozygotic twins | Methylation levels in the promotor region of KLK8 is associated with depression symptomatology in general population | [65] | |
Alzheimer’s disease | Hippocampal and parietal cortex | Expression (RT-PCR), of KLK8 in Alzheimer’s disease (AD) and control tissue | 11.5-fold increase in KLK8 mRNA levels in AD hippocampus compared to controls | [66] |