Question: How can overdominant genotype model contribute to disease risk?
gravatar for akira
4.4 years ago by
akira20 wrote:

We have performed an association study between SNPs and a disease. We found a significant association between one SNP (C/T) and the disease in overdominant model (CT vs. CC+TT, OR=1.58). I would like to know why the CT genotype can contribute to the disease risk, whereas both CC and TT are non-risk genotypes for the disease.

ADD COMMENTlink modified 4.4 years ago by andrew.j.skelton736.0k • written 4.4 years ago by akira20

You're not seriously expecting anyone to be able to explain the biological reason for overdominance in a case where we don't even know what the affected gene is, do you?

ADD REPLYlink written 4.4 years ago by Devon Ryan96k
gravatar for andrew.j.skelton73
4.4 years ago by
andrew.j.skelton736.0k wrote:

This is probably down to the impact the SNP has on the transcription/ translation process. You could use something like VEP to predict the effect of the variant, i.e. if the effect is deleterious, causes a shift in the reading frame, etc. If you don't have sequencing data and this was done on a chip, you could find the reference for that gene, alter the single base that you associate with risk, and run it through the VEP

ADD COMMENTlink written 4.4 years ago by andrew.j.skelton736.0k
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