Why GWASs cannot speculate what kind of mutation the SNP would cause?
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4.6 years ago
francois ▴ 70

I am trying to understand results from GWAS studies, and I have this question:

Why can't GWAS studies speculate about what kind of consequence would the specific SNP have? As they information about the precise position on the genome + which base changes, I thought studies would speculate if the SNP in question causes a silent/missense/nonsense mutation, but they apparently do not (at least those I have read).

I guess some information is missing or uncertain to speculate about that... What is it? I was thinking maybe which frame is read?

Any guess?

gwas SNP • 1.1k views
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4.6 years ago
Noushin N ▴ 600

Adding to the response by swbarnes2, many of the variants identified in GWAS are located in non-coding regions of the genome and will function not by altering the protein coding sequences, but by regulation of gene expression.

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My assumption is that generally the "lead" SNPs identified as most significant in GWAS are not necessarily the actual causal SNP because of linkage disequilibrium. Therefore trying to ascertain a function or effect of those SNPs would be misleading. I believe they generally try to do further studies on implicated loci (called "fine-mapping") to more precisely locate the likely causal variants (e.g., pmid: 26551672).

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Great point! Thanks for the addition, Collin!

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4.6 years ago

It's easy to predict the amino acid change consequence of a mutation. What's hard is to predict the functional consequences of most changes.

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