SYMBOL - HNMT
rs - rs1050891
NCBI - A>G
POLYMORPH - G/A
GENOTYPE RISK - YES
I was interested in your statement that HNMT/ methylation problems are genetic in nature. Can you give some links for that?
I don't know a lot about HNMT but haven't come across genetic variants leading to low activity, hence my question.
Regarding rs1050891, I'm afraid you have been misled. There is no evidence that this variant does anything.
Here is the entry from dsSNP. No clinical significance is listed and if you follow the two publications linked under PubMed you will see that the two studies looking at association of the SNP with asthma and aspirin response found no association.
No other studies appear to have been done.
Given the position of the SNP in the 3'UTR, it is unlikely on its own to do anything since it does not affect the protein produced. It is possible that SNPs in such a position could affect mRNA stability but usually it is more than one SNP. In any case, there is nothing to suggest this is the case for this SNP.
You need to appreciate that just because a variant is identified doesn't mean there is any consequence. Many variants do nothing at all and this SNP appears to be such a variant. So automatically calling a variant risk is incorrect as is thinking that all variants are a problem.