Friday, October 13, 2017

Mutations Related to Gout

23andme tests for various gout related SNPs (single nucleotide polymorphisms).  There seems to be two main genes where defects are known to be contributors to gout, ABCG2 and SLC2A9.  About 8 months prior to taking the 23andme test, I started noticing something very disturbing whenever I had to stand for any length of time.  Namely, my joints started aching like I had been hard on them all day when in fact I was only standing for more than an hour or two.  It made helping with Thanksgiving dinner difficult since I kept on having to take a break.  I started running on the treadmill and taking whey protein months before Thanksgiving but did not think it was related to my pain.  And it was not a lot of whey protein and not even every day. Eventually I started to limp all day.  The limping continued until I finally experienced my first gout attack the morning after I helped my husband with the flower beds.  I told my husband that I could not walk since the pain in my big toe was excruciating.  He suggested that it could be gout and had to explain to me what gout was.  After playing video games all day and taking ibuprofen regularly all weekend I finally saw a podiatrist who diagnosed me with gout.  I was 27.  A few weeks later, I was able to access my 23andme raw data and found that I had several mutations that can contribute to gout.  Gout related snps:

rs2231142 = T is the risk allele (TT causes a 53% reduced urate transport rate)

rs16890979 = C (CC means having a 3.4x risk of gout)
rs6449213 = C (CC means 4x risk of hyperuracemia)
rs737267 = G (Increased risk of gout)
rs12498742 = A (Increased risk of gout)
rs72552713 = A (According to dbSNP this is a stop-gain mutation)
rs4994 = G (G May be associated with hyperuricemia)

The rs2231142 snp is in the ABCG2 gene as is the rs72552713 snp.  The others are in SLC2A9.  There may be other mutations I'm not aware of, but having TT for rs2231142 is not helping me any.  I'm heterozygous for rs16890979, rs737267, rs12498742, and the not so common rs4994.


So I was an otherwise healthy 27 year old with gout.  Not overweight, was exercising, and drank wine or beer fewer than 3 times a week.  But I was probably putting too much pressure on my feet by running on the treadmill and adding more protein to my diet did not help.  Protein can get converted to uric acid.  I am now 31 and noticed that joints in my fingers (especially my right thumb) got achy in addition to my big toe throbbing after standing up all day last Thursday.  My joints still ache a week later.  Last year, I was close to having another gout attack after taking iron supplements for a month.  I periodically take cherry extract to stop a gout attack before it starts.  I hope this continues to offer protection for years to come.

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