Tuesday, March 20, 2018

Rheumatoid Arthritis Risk Variants

Using Promethease, I took a quick look to see if I'm a carrier for any risk alleles for developing rheumatoid arthritis.  The following SNPs may be relevant:

rs7574865, STAT4 gene: Hetero = 1.3x risk for RA and higher risk for other autoimmune diseases. 
rs3738919, ITGAV: Homozygous CC = 1.94x for RA
rs6457617: Hetero = 2.3x risk for RA
rs2240340, PAD14: Homozygous AA = 1.3x risk for RA 
rs3766379, CD244: Homozygous TT = 1.9x risk for RA
rs6314, HTR2A: Heterozygous = Higher risk for RA
rs6313, HTR2A: Heterozygous = Higher risk for RA
rs6682654, CD244: Homozygous GG = 1.8x risk for RA
rs6910071, C6orf10, LOC101929163: Heterozygous, AG = possibly 4x risk for RA (due to the G allele, MAF = 0.1048)
rs660895: Heterozygous = possibly 4x risk for RA
rs2104286, IL2RA: Heterozygous = 1.4x risk for RA
rs6684865, MMEL1: Homozygous AA = 1.5x risk for RA

Another possibly relevant allele includes:

rs7454108: Heterozygous = Single HLA-DQ8 haplotype, DQ8 is commonly linked to autoimmune disease in the human population.  C is the risk allele with a MAF = 0.0798.

The 23andme raw data for an important gene relating to rheumatoid arthritis, HLA-DRB1, is not easy to decipher since it contains many proprietary markers (beginning with "i") such as i5033422.  Note that there are several genes involved with rheumatoid arthritis risk.  It's not easy to tell what the susceptibility is for any individual.  From what I can tell there also needs to be some sort of environmental trigger for an autoimmune disease, like rheumatoid arthritis, to develop.

I don't want to be a hypochondriac, but I remember getting pityriasis rosea in the winter of 2016 and diagnosed by a doctor in May 2016.  The herald patch appeared in February and in April and May the full blown rash developed.  I also remember being sick for 2 weeks around that time.  I had a miscarriage in April.  Then pregnant in June.  That was a hard year!  The polyarticular arthritis did not appear until October 2017 (about 7 months after my first child was born).  I thought it could be chronic gout, but the uric acid was low enough, to make me think it could be something else.  This morning I woke up with a new joint in my left thumb being sore and stiff.  The same joint of my right thumb has been affected since October.  Symmetrical joint pain could be a sign of RA.  Will keep you posted!

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