Snps for Coagulation Defects

Dave Berg of Hemex Labs back in 1990 reported that most CFS patients have a high incidence of coagulation problems — usually genetic in origin. Getting a MD to tested for these disorders is usually very hard, and made worst by most insurance (including national insurance) not willing to pay for them unless you are having a stroke.

The following is what I have been able to track down for Coagulation SNPs on PubMed. Tomorrow — we will look at a canned set of SNPs that a different site has available.

  • Magnitude: is the risk compare to normal people (0).
  • At present, some information is hidden from download by 23andMe, the value shown is “DI” Diagnostic information
    • Check download file and https://www.23andme.com/you/explorer/snp/ – often one will read DI and the other will give the value
  • Note on getting tested for most: “Factor V Leiden mutation testing should be reserved for patients with clinically suspected thrombophilia” – Mayo labs.
    • Australia Medical Insurance: “Medicare will pay only if the pathology request identifies in writing that the patient has a personal history of venous thromboembolism. A rebate for the proven defect(s) only can also be claimed for the first degree relative of a person who has a proven defect of any of the above. A family history of venous thromboembolism alone is not sufficient. The request must specifically identify the proven defect(s).” – AKA you can’t get there from here!
  • Readings Recommended:
SNP 23andMe Links – Comments (Magnitude) My values
rs1799963 i3002432 G20210A mutation of the prothrombin F2 gene G20210A, Positive: A:A(3). A:G(3) Normal G:G ( 0.293 when controlling for other SNPs) G:G
rs6025 yes Leiden mutation, R506Q, Positive: A:A 9x risk(3.5), A:G(2.3), G:G (0) (C=3.57).
common mutation.
C:C
rs7538157 n/a BLZF1 A->C (C=2.69) n/a
rs16861990 yes NME7   A->C (C=2.02) A:A
rs2038024 yes SLC19A2    C->A (C=1.53) (impacts absorption of B1) A:A
rs2519093 n/a ABO A->T, A->C (A=1.69) n/a
rs495828 yes T->G (T=1.65) G:T
rs8176719 yes ABO blood type O allele]  ?-> C DI
rs118203905 na FV Hong Kong R306G ( G=1.59)
rs118203906 na FV Cambridge R306T( T=1.59)
rs1801020 na C46T ( T=1.63)  A->G G:G
rs2232698 yes R67X ( T=1.59) C->G, C->A G:G
rs5985 Factor Protector yes Factor Protector (2-4)  C->A  A:A
rs121909548 n/a A3845 ( T=2.277) C->G,  C->A
rs9804128 yes SNP Interaction [G on this one] A:G
rs4784379 yes SNP Interaction [A on this one] A:G

As you can see, I have the expected genetic mutation to pre-dispose myself to coagulation. As I result, I can be more specific in searching for appropriate supplements to reduce the type of risk each one creates. I can also regularly search PubMed for new articles. For example, searching for rs495828 -found 8 articles at present. For example

  • associated with angiotensin-converting enzyme (ACE) activity and inflammation .. and with enalapril-induced cough [2014]

For Rs6025, there are 35 articles. One of which states “The goodness of fit of the genetic and combined scores improved when significant SNP-SNP interaction terms were included.”[2014], i.e. the more you have, the greater the combined effect.

Unlike the latter two vectors associated with CFS, I have significant activity here. The absence of those two other factors may be why I have been able to slip from CFS to remission three times — my recovery is not hampered by those other factors.