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How can overdominant genotype model contribute to disease risk?

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.

snp genetic model association overdominant
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updated by andrew.j.skelton73 andrew.j.skelton73 • written by akira • akira

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?

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written by Devon Ryan Devon Ryan

1 answer

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

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written by andrew.j.skelton73 andrew.j.skelton73

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