rs61752717, MEFV

N. diseases: 72
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.750 GeneticVariation GWASCAT Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis. 30946743 2019
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.750 GeneticVariation BEFREE The present study indicates that the MEFV M694V mutation may contribute to the pathogenesis of AS. 28800602 2017
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.750 GeneticVariation BEFREE Moreover, M694V is significantly associated with a</span> higher level of erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) in AS patients. 25036284 2014
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.750 GeneticVariation BEFREE A relatively higher frequency was observed for M694V mutation in AS patients than controls (10.7% versus 4.2% , p=0.060). 22960328 2012
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.750 GeneticVariation BEFREE Therefore, association of M694V with ankylosing spondylitis can be recognized as a geographic region-specific risk factor affecting a common inflammatory pathway in the disease pathogenesis. 21695514 2011
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.750 GeneticVariation BEFREE M694V was the only variant that was significantly more common in the AS group than in the combined or individual control groups (P = 0.026 for AS patients versus healthy controls, P = 0.046 for AS patients versus RA patient controls, and P = 0.008 for AS patients versus healthy and RA patient control groups). 20533539 2010