So far about 2.4 million DNA sequence variants (single nucleotide polymorphisms or SNPs) have been discovered in the human genome, and millions more exist. There is a huge international project ongoing called the Hap Map project. The International HapMap Project is a collaboration among researchers at academic centers, non-profit biomedical research groups and private companies in Canada, China, Japan, Nigeria, the United Kingdom, and the United States. It officially started with a meeting on October 27 to 29, 2002, and was expected to take about three years. It comprises two phases; the complete data obtained in Phase I were published on 27 October 2005. The analysis of the Phase II dataset was published in October 2007. The Phase III dataset was released in spring 2009. The project is ongoing
Believe it or not the first of these was discovered in 1972 as a result of research into Mastitis in Dairy Cattle. In fact the original HLA B27 was done with sera from multiparous women, who had become immunized against paternally derived antigenic determinants present on cells of the fetus. Even after this The nature of the antigenic targets remained unknown until the mid-1980s, when the sequences of the HLA genes, including HLA-B27, were determined. (leading to biologic medications) Soon thereafter, it was discovered that the serologically defined HLA-B27 entity was in fact a family of related alleles with minor differences in their amino acid and/or nucleotide sequences and that some of these subtypes were not associated with Ankylosing Spondylitis. What we know is that it is a “blood disease” effecting white blood cells.
The most recent research has lead to the fact these proteins are associated with other types of spondyloarthritis (SpA) or SpA-related disorders as well, namely psoriatic arthritis, reactive arthritis and uveitis. Because the HLA B27 test is so specific it isn’t relied on. However there are new tests which will be come generally available in the next few years that will not only apply to other forms od “arthritis” but will actually match a biologic to the individual. There is work being done in Great Britain that will lead to individualized treatment foe arthritis. It has take a back seat in the US as much of the effort is going toward immuno therapy for cancer that is literally curing some forms of cancer that were untreatable.
The other development is the term Psoriatic Arthritis is going away (a good thing as I’m sure we are all tired of explaining its not a “bad finger” but a serious systemic disease. Already the medical coding adopted last year now calls what we have “Spondyloarthropathies” sub classes include axial. peripheral, enteric, and reactive. I would encourage everyone to use “Auto -immune Spondyloarthropathy” when asked what “they have” Phil Mickelson has raised awareness which is a good thing but ultimatley minimized the disease which is a bad thing. His decling game has nothing to do with his “stroke” age, or any of the other talking heads explanation.
Because we are talking genes PLEASE don’t assume its inherited. Its not EVERYONE has these same genes. We still aren’t clear what sets them off
Jen is totally correct, it takes an environmental trigger.
I’m retired now but we DID fix the cow thing. It was a custom “vaccine” they are doing it with cancer and the WILL be doing it with Spondyloarthropathy. Down with Vaxers!!!
