Entering edit mode
7.5 years ago
genesneuro
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30
Has anyone came across following scenario in genetic studies
Consider a rare variant G/A in a gene in mice, allele G (major allele) was identified to have a causal effect on an endophenotype of a disease, when compared to allele A (minor allele).
However for the syntenous variant in human (G/A), allele A (minor allele) showed statistically significant allelic association with the disease in human.
(or in other words allele attributed to have functional effect for an endophenotype in animals experiment is shown to be protective for the disease as a whole in human cases)
Any suggestions/inputs in this regard