Annotation Detail

Information
Associated Genes
UBASH3B
Associated Variants
PSTPIP1 c.36+68G>A ( ENST00000379595.7, ENST00000558012.6, ENST00000559295.5 )
rs2542151
PSTPIP1 c.36+68G>A ( ENST00000379595.7, ENST00000558012.6, ENST00000559295.5 )
rs2542151
Associated Disease
ankylosing spondylitis
Source Database
DisGeNET
Description
Polymorphisms associated in the allele frequencies test with severe BASFI/t in all classifications were: rs2542151 (p60 [P = .04], p65 [P = .04], p70 [P = .001] and p75 [P = .001]) and rs2254441 (p60 [P = .004], p65 [P = .02], p70 [P = .01] and p75 [P<.001]).. Genotype association, after adjustment for covariates, found an association in three of the four patients' classifications for rs2542151 and in two of the classifications for rs2254441.Forward logistic regression did not identify any model with a good predictive power for severe functional development.In our study we identified clinical factors and 24 polymorphisms associated with development of severe functional status in AS patients.
Pubmed
22984424
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2012
Drugs