3 ms·
The typical path to determining causality for a variant is: Variant -> (Gene expression or some other molecular-level phenomenon) -> Phenotype. Actually, associ
by cgiles 9y ago
The typical path to determining causality for a variant is: Variant -> (Gene expression or some other molecular-level phenomenon) -> Phenotype. Actually, associating a variant with a phenotype is the easy part, determining what happens in between is much harder. Another hard part is determining which variant does something since variants are highly correlated with each other.
I am not sure I understand your question exactly so I'll give a few different answers. One is that I see no difference whether the phenotype is behavioral or some disease occurring below your neck. It all depends on the statistics and effect sizes of the phenotype and how good a predictor "race" is.
Another is that actually it is much more difficult, obviously, to determine causality than a correlation, regardless of what you are correlating with what.
And a final answer is that we generally consider a causal relationship between genetics and a phenotype proved with acceptable levels of error if the two are correlated, and we control for all the environmental variables we can, and the correlation remains. You can also look at heritability with twins separated at birth and raised in different environments and other such experiments to control for environment.
- tptacek 9y agoI'd probably start with the question of: isn't it easier to understand the causal relationships in a lot of diseases than it is to understand behavior, the biology of which we barely understand without bringing genetics into it?
- cgiles 9y agoExcept for Mendelian diseases, not really. The sad fact is that for the so-called "complex diseases", we have very little idea what is going on inside the black box. I won't presume to guess whether we know less about them or about behavior, but the ignorance level is very high in both cases. They are called "complex" because we don't understand them, and because they seem to have many causes, both individual genetic loci and environmental variables, each contributing a little bit rather than something like sickle-cell anemia which has one big cause. However, I think our techniques are quite sufficient right now to say X% of the variance in phenotype P is attributable to genetics (i.e., genetics partially cause P). That is a totally different thing from explaining how the genotype causes the phenotype.