Promethease report on c(o)eliac disease

[MacUalraig]

I ran Promethease on my AncestryDNA data the other day. My sister is apparently positive for coeliac disease. My report says this at the top:


rs2187668(A;G)
Magnitude: 2.1
Frequency: 15.9%
Repute:Bad
References:10
Somewhat increased autoimmune disorder (lupus, celiac disease) risk; 1 HLA-DRB1*0301 allele
In at least UK populations, and perhaps others, SNP rs2187668 is a tag SNP for the HLA-DRB1*0301 allele. The HLA-DRB1*0301 allele is the allele presenting the highest risk for developing lupus, and it appears to act in a dominant manner (i.e. inheriting 2 copies is no worse than inheriting 1 copy). In dbSNP orientation, the risk allele is rs2187668(A), with an odds ratio of 2.3x (CI: 1.7 - 3.2, permuted p < 0.0001). From individuals with the most common rs2187668(G;G) genotype, risk is reduced for celiac disease, with an odds ratio of 0.30x according to a study of ~800 patients. rs2187668(A) also tags the tightly linked DQB1*0201 allele, which in turn is linked to DQA1*0501; together, these are known as the DQ2.5 haplotype. This is the most common haplotype associated with celiac diseas...

Our local health website says this:
It is a multigenetic disorder, associated with HLA types HLA-DQ2 (90%) or HLA-DQ8, plus other genetic or environmental factors. HLA typing indicating lack of DQ2 or DQ8 has a high negative predictive value, which may be useful if trying to exclude coeliac disease.[2]

However I don't have any symptoms of the disease.

[MacUalraig]

"Approximately 95% of patients express HLA-DQ2 and the remainder express DQ8. Twenty to thirty percent of the general population are HLA-DQ2 positive, so clearly there are other, as yet, unidentified factors determining the onset of coeliac disease in a fraction of this group. It is estimated by linkage studies that HLA genes account for only 40% of the heritability of coeliac disease."

http://www.bsg.org.uk/images/stories/clinical/bsg_coeliac_10.pdf

What confused me a bit was my family suggestion I should test for it - but it seems there isn't any point unless you have the symptoms ;-)

[Torc Seanathair]

I just ran Promethease, and also have a celiac factor, with no symptoms.

rs3184504(T;T)
increased risk for celiac disease increased resistance to bacterial infections

Bad Repute
3 Magnitude
21.4% Frequency
0.2181 GMAF
33 References

Of course, with a 450 page report of medical conditions, you would think I would have died at least 40 years ago.

[beb]

Bad Repute
2 Magnitude
45.5% Frequency
0.2181 GMAF
31 References
SH2B3 Gene
12 Chromosome
111446804 Position
3 Max Magnitude