Rheumatology Medical News about RA susceptibility;genetic screening/testing

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Investigating the viability of genetic screening/testing for RA susceptibility using combinations of five confirmed risk loci
Rheumatology, 09/11/09

McClure A et al. – This represents the first exploration of the viability of population screening for RA and identifies several high-risk genetic combinations. However, given the population incidence of RA, genetic screening based on these loci alone is neither sufficiently sensitive nor specific at the current time.

Methods

Data were evaluated from 4238 RA cases and 1811 controls, for which genotypes were available at all 5 loci

Results

Statistical analysis identified eight high-risk combinations conferring an odds ratio >6 compared with carriage of no susceptibility variants
10% population controls carried a combination conferring high risk
All high-risk combinations included SE, and all but one contained PTPN22
Statistical modelling showed that a model containing only these two loci could achieve comparable sensitivity and specificity to a model including all five
Furthermore, replacing SE (which requires full subtyping at the HLA-DRB1 gene) with DRB1*1/4/10 carriage resulted in little further loss of information (correlation coefficient between models = 0.93)

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