Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752717
rs61752717
C 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

dbSNP: rs61752717
rs61752717
0.750 GeneticVariation BEFREE The present study indicates that the MEFV M694V mutation may contribute to the pathogenesis of AS. 28800602

2017

dbSNP: rs61752717
rs61752717
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

dbSNP: rs61752717
rs61752717
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

dbSNP: rs61752717
rs61752717
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

dbSNP: rs61752717
rs61752717
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

dbSNP: rs3743930
rs3743930
0.030 GeneticVariation BEFREE But no significant differences were detected in either genotype or allele distributions between case and control groups for the polymorphism rs11466023 (P > .05).MEFV gene polymorphism rs3743930</span> might be significantly associated with AS susceptibility in Chinese Han population, and its G allele might predict high risk of AS. 30557972

2018

dbSNP: rs3743930
rs3743930
0.030 GeneticVariation BEFREE The aim of the current study was to determine the contributions of several common mutations in the Mediterranean fever (MEFV) gene, namely, E148Q, M680I, M694V and V726A, to ankylosing spondylitis (AS) susceptibility. 28800602

2017

dbSNP: rs3743930
rs3743930
0.030 GeneticVariation BEFREE The aim of this study was to analyze the association of common MEFV variations (M694V, M680I, V726A, and E148Q) with AS in a group of Turkish patients. 20669279

2010

dbSNP: rs11466023
rs11466023
0.020 GeneticVariation BEFREE But no significant differences were detected in either genotype or allele distributions between case and control groups for the polymorphism rs11466023 (P > .05).MEFV gene polymorphism rs3743930 might be significantly associated with AS susceptibility in Chinese Han population, and its G allele might predict high risk of AS. 30557972

2018

dbSNP: rs28940579
rs28940579
0.020 GeneticVariation BEFREE The aim of the current study was to determine the contributions of several common mutations in the Mediterranean fever (MEFV) gene, namely, E148Q, M680I, M694V and V726A, to ankylosing spondylitis (AS) susceptibility. 28800602

2017

dbSNP: rs11466023
rs11466023
0.020 GeneticVariation BEFREE The aim of this study was to explore the frequency and clinical significance of MEFV gene mutations (M694V, M680I, V726A, E148Q and P369S) in a cohort of Turkish patients with AS. 22960328

2012

dbSNP: rs28940579
rs28940579
0.020 GeneticVariation BEFREE The aim of this study was to analyze the association of common MEFV variations (M694V, M680I, V726A, and E148Q) with AS in a group of Turkish patients. 20669279

2010

dbSNP: rs224204
rs224204
0.010 GeneticVariation BEFREE AS patients with PA showed an earlier age of disease onset (p=0.021), longer disease duration (p=0.020) and longer duration of AS symptoms from onset (p=0.034) than AS patients without PA. We found significant associations with the presence of PA at disease onset in 14 SNPs located in 10 genes: HLA-DQB2 (rs2857210 and rs9276615), HLA-DOB (rs2857151, rs2621332 and rs1383261), JAK2 (rs7857730), IL-23R (rs11209008 and rs10489630), CYP1B1 (rs1056836), NELL1 (rs8176786), KL (rs564481), and MEFV (rs224204), IL-2RB (rs743777) and IL-1A (rs1800587). 30299251

2019