For scientists
Introduction
The table below shows additional scientific details relating to the genetic markers we tested for this condition, including the frequency of each genotype in the closest HapMap population to the study population. For example, if the study was performed using samples from Great Britain, then we will report the genotype frequency in the CEU HapMap population.
In some cases, our test SNP is a proxy for the published SNP. In those cases, we have indicated the r2 value observed in the closest HapMap population from which the study was performed. r2 values of 1 indicate a perfect correlation of genotypes in the HapMap samples.
Detailed odds ratio table
|
Gene or location 
|
Test SNP
|
Risk marker
|
Your markers
|
Odds ratio
|
Reference population
|
Genotype frequency RR
|
Genotype frequency RN
|
Genotype frequency NN
|
r2 with published SNP
|
Source
|
|---|---|---|---|---|---|---|---|---|---|---|
|
PTPN22
|
rs2476601 | A | G G | 1.0 | CEU | 0.00% | 28% | 72% | direct | American Journal of Human Genetics, 2004 |
|
chr6.138007111
|
rs10499194 | C | C T | 1.33 | CEU | 67% | 32% | 1.7% | direct | Nature Genetics, 2007 |
|
TRAF1
|
rs3761847 | G | A G | 1.32 | CEU | 27% | 50% | 23% | direct | New England Journal of Medicine, 2007 |
|
chr6.138048197
|
rs6920220 | A | G G | 1.0 | CEU | 0.00% | 35% | 65% | direct | Nature, 2007 |
|
STAT4
|
rs7574865 | T | G G | 1.0 | CEU | 7% | 28% | 65% | direct | New England Journal of Medicine, 2007 |
Robustness of our calculations
We tested the sensitivity of our estimated lifetime risk calculation to changes in the lifetime risk by calculating the Genetic Composite Index rank of every individual in the CEU population across varying values of lifetime risk estimates, ranging from 0 to 0.5. From this we calculated the average and standard deviation of the rank of each individual. We find that this condition is robust to changes in lifetime risk. This means that all individuals had a standard deviation lower than 5 percent. This implies that even though the estimates of your absolute risk may be quite different based on different average lifetime risk estimates, your estimates of risk compared to the population is highly robust. For a more detailed explanation of the Genetic Composite Index, please refer to our white paper on navigenics science.
Conditions that have fewer numbers of markers going into the composite score have a segmented distribution since fewer genotype combinations are possible. As new associations are discovered and added to our service, we will be able to provide a better measurement of how you compare with the rest of the population.
Additional references
Heritability: MacGregor. Arthritis Rheumatism 43:30. 2000
Prevalence: Gabriel. Arth and Rheum 42:415. 1999
Lifetime risk reference: Doran. Arthritis Rheum. 46:625. 2002
Lifetime risk comment: cumulative incidence (estimated) (age 18+)