rs2066842, NOD2

N. diseases: 15
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.790 GeneticVariation BEFREE P268S polymorphism may be associated with CD susceptibility in the Zhuang population in the Guangxi Zhuang Autonomous Region, China. 24782627 2014
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.790 GeneticVariation BEFREE New NOD2 mutations were, however, associated with CD in Malaysians (JW1), Han Chinese, and Indians (P268S). 21887729 2012
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.790 GeneticVariation BEFREE The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population. 22426692 2012
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.790 GeneticVariation BEFREE We wished to analyse the frequency of Crohn's disease-linked CARD15 polymorphisms (P268S, R702W, G908R and 1007fs) in a group of Spanish patients with idiopathic uveitis. 18219096 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.790 GeneticVariation BEFREE We confirmed a strong association between three NOD2/CARD15 gene variants (Pro268Ser, OR = 2.52, 95% CI = 1.34-4.75); (Arg702Trp, OR = 6.65, 95% CI = 1.99-22.17); (1007fs, OR = 9.59, 95% CI = 3.94-23.29), and a weak association between both the protective OCTN1/OCTN2 CC haplotype (OR = 0.28, 95% CI = 0.08-0.94), and a variant of ATG16L1 gene (Thr300Ala, OR = 0.468, 95% CI = 0.24-0.90) with Crohn's disease. 18715515 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.790 GeneticVariation BEFREE Seventeen unrelated patients with AA from the French national register were genotyped for c.802C>T (p.Pro268Ser) and the three main CD associated variants, c.2104C>T (p.Arg702Trp), c.2722G>C (p.Gly908Arg) and c.3019_3020insC (p.Leu1007fsX1008), and 16 were screened for the 11 coding exons of NOD2/CARD15. 17570063 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.790 GeneticVariation BEFREE Presence of P268S in the absence of known NOD2/CARD15 mutations was correlated with increasing age and adult onset of CD, whereas pediatric-onset disease was associated with male gender and the wild-type NOD2/CARD15 haplotype. 16148063 2005
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.790 GeneticVariation BEFREE Virtually all studies investigating the occurrence of these mutations in patients with CD have used separate PCR-based methods to screen patient DNA, here we describe a novel multiplex amplification refractory mutation system (ARMS) assay that allows the simultaneous detection of R702W, G908R, and 1007fs, and a fourth CARD15 variant, P268S, at a fraction of the cost of the pre-existing genotyping assays. 15527324 2004
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.790 GeneticVariation BEFREE The Pro(268)Ser variant was inversely associated with UC spondylarthritis (P = 0.003, OR 0.55, 95% CI 0.37-0.82), but not with CD spondylarthritis. 12115195 2002