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. 2020 May 15;70:26. doi: 10.1186/s12576-020-00753-2

Table 1.

Descriptive overview of human studies, in which KLK8 was associated to mental health phenotypes

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]