Table 2.
Variants of interest identified by whole genome sequencing in Miniature Schnauzers with hypertriglyceridemia. Genomic locations are based on the UU-Cfam_GSD_1.0/canFam4 assembly (GenBank accession GCA_011100685.1).
| Gene | Description | Variant Type | PhyloP Score | MS HTG | Other MS * | Non-MS Breeds † | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/R | R/V | V/V | AF | R/R | R/V | V/V | AF | R/R | R/V | V/V | AF | ||||
| APOE | g.111237170_ 111237172del |
5′ UTR | 1.95, 0.83, 0.43 | 6 | 2 | 0 | 0.13 | 14 | 14 | 2 | 0.30 | 613 | 0 | 0 | 0 |
| LMF1 | g.4020228C>A | intronic | NA †† | 1 | 4 | 3 | 0.63 | 8 | 11 | 11 | 0.55 | 610 | 3 | 0 | 0.002 |
| GPIHBP1 | g.37746233C>T | missense | −3.66 | 6 | 2 | 0 | 0.13 | 30 | 0 | 0 | 0 | 599 | 1 | 0 | 0 |
AF, allele frequency; HTG, hypertriglyceridemia; MS, Miniature Schnauzers; R, reference nucleotide; V, variant. * Variant calls from 30 Miniature Schnauzers with unknown HTG phenotypes in the WGS database. † Three dogs in the non-MS breed population did not have a genotype call for the GPIHBP1 variant. †† A PhyloP score could not be determined for this nucleotide because the position could not be found in the human assembly GRCh38/hg38 (GenBank assembly GCA_000001405.15).