Hello all...
Where can I find out what SNPs do in the body? Like if I have a SNP rs117246541 and the genomic position is 16055122 and the genotype is G/G, how can I figure out what that is doing in the human body? I know there are a bunch of websites, but what is the best one, and which can I use to easily find out how this is affecting the subject? I am primarily doing a study on polymorphisms that affect xenobiotic metabolism. My ultimate goal is twofold: (a) to figure out what drugs are going to work or not work for children with ADHD, rather than using the extreme trial and error process that practitioners have no choice but to employ now, and (b) to do the same with MS drugs. I know what the drugs do, and how they are metabolized etc. but there is just so much information here with the sequencing I have done...I am just not a geneticist, I am a chemist, and I am a little out of my element. The metabolomics part, I'm good, the genomics component, I'm still very much a newbie. Please help :)
It is impossible to give a short answer to your question as the topic is very complex!
There have been numerous SNPs described for genes of drug metabolizing enzymes and drug transporters. And it is often the question what effect - if there is one - it has on the respective protein. And if it has an effect on the proteins' activity, has this any consequence in vivo?
I think that it is necessary to call in an expert and to cooperate with him.
Peter
Sorry, no it's not an easy answer, I totally get that. So there is no website then that says something like, maybe...
Genotypes of CYP2D6*1, *3, *4, *5, *9, *10, and *17 alleles and duplication of the gene is possible. *1 has no effect, *3, no effect, etc. etc. *10 is highest in Malaysians, *17 makes you an ultra-rapid metabolizer...and so on...still a simplistic (and made up!) example, but that's what I want to see. Now...with all of these databases, like the human metabolome database, or drugbank, or whatever, databases I am used to, there are summaries, sure, and GCMS spectra and physical properties that are stated as facts, but a lot of it is just also links to papers that relate to that chemical. I guess that's what I am looking for. Somewhere that doesn't necessarily say we know this SNP does this, but, this SNP has been implicated in this, and we think it may do this....or maybe someone needs to create a Drugbank of SNPs then ;)
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