Key result
Commercial genetic test variants P2, P3, and P4 showed no significant association with a histopathological diagnosis of PSSM2 or MFM in Warmblood and Arabian horses.
Why the study?
Commercial genetic tests for type 2 polysaccharide storage myopathy and myofibrillar myopathy have not been validated by peer review, and formal regulation of veterinary genetic testing is lacking.
Does commercial genetic testing for PSSM2 and MFM correspond to a histopathological diagnosis in Warmblood and Arabian horses?
Cross-Sectional (n=387)
Does commercial genetic testing for PSSM2 and MFM correspond to a histopathological diagnosis in Warmblood and Arabian horses?
Commercial genetic tests for PSSM2 and MFM in horses do not correlate with histopathological diagnosis and should not be used for selection, breeding, or diagnosis.
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No association with PSSM2/MFM; leaves open need for validated diagnostics in these breeds.
Valberg et al. (2020) conducted a cross-sectional in Type 2 polysaccharide storage myopathy (PSSM2) and myofibrillar myopathy (MFM) (n=387). Commercial genetic test variants (P2, P3a, P3b, P4) vs. Phenotyped breed-matched controls was evaluated on Association between P locus variants and a histopathological diagnosis of PSSM2/MFM. Commercial genetic test variants P2, P3, and P4 showed no significant association with a histopathological diagnosis of PSSM2 or MFM in Warmblood and Arabian horses.
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