NKX2-3, NK2 homeobox 3, 159296

N. diseases: 22; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 GeneticVariation disease BEFREE SNPs rs72553867 (IRGM gene), rs4409764 (NKX2-3 gene), and rs3731772 (AOX1 gene) increase the risk of pCD. 31844038 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 GeneticVariation disease BEFREE We confirmed 6 previously reported loci in Caucasian: GPR35 at 2q37 (rs3749172; P = 5.30 × 10, odds ratio [OR] = 1.45), ZNF365 at 10q21 (rs224143; P = 2.20 × 10, OR = 1.38), ZMIZ1 at 10q22 (rs1250569; P = 3.05 × 10, OR = 1.30), NKX2-3 at 10q24 (rs4409764; P = 7.93 × 10, OR = 1.32), PTPN2 at 18p11 (rs514000; P = 9.00 × 10, OR = 1.33), and USP25 at 21q11 (rs2823256; P = 2.49 × 10, OR = 1.35), bringing the number of known CD loci (including 3 in the HLA) in Koreans to 15. 25489960 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 GeneticVariation disease BEFREE To generate large-scale evidence on whether NKX2-3 polymorphisms are associated with CD or UC susceptibility we have conducted a meta-analysis of 17 studies involving 17329 patients and 18029 controls. 24473197 2014
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 GeneticVariation disease BEFREE We confirmed that the NKX2-3 polymorphism is associated with common susceptibility to IBD and that HLA-DRB1*0450 alleles increase susceptibility to CD but reduce risk for UC while HLA-DRB1*1502 alleles increase susceptibility to UC but reduce CD risk. 23942620 2014
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 Biomarker disease BEFREE NKX2-3 may play different roles in UC and CD pathogenesis by differential regulation of EGR1. 21968973 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 AlteredExpression disease BEFREE A positive correlation was observed between mRNA expression of PTPN2 and NKX2-3 in B cells and in intestinal tissues from both CD and UC patients. 22377701 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 Biomarker disease BEFREE We found strong evidence of CD-association for 195 genes, identifying novel susceptibility genes (e.g., ISX, SLCO6A1, TMEM183A) as well as confirming many previously identified susceptibility genes in CD GWAS (e.g., IL23R, NOD2, CYLD, NKX2-3, IL12RB2, ATG16L1). 23071489 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 GeneticVariation disease BEFREE In the pediatric cohort the associations of TNFSF15, NKX2-3 with CD, and PTGER4, NKX2-3, ZNF365, IFNG, PSMG1 with UC, were confirmed. 21818367 2011
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 GeneticVariation disease BEFREE We confirmed the association of SNP rs10883365 located in the 5' flanking region of NKX2-3 with Japanese UC and colonic CD and determined the risk haplotype (haplotype B) for UC. 21514341 2011
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 AlteredExpression disease BEFREE Nkx2-3 gene variants are strongly associated with inflammatory bowel disease (IBD) and its expression is up-regulated in Crohn's disease (CD). 20188614 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 GeneticVariation disease BEFREE NKX2-3 rs10883365 variant allele was associated with increased risk for CD (P = 0.009, OR = 1.24, 95% CI = 1.06-1.48) and UC (P = 0.001, OR = 1.36, 95% CI = 1.13-1.63), whereas variant IRGM allele increased risk for CD (P = 0.029, OR = 1.36, 95% CI = 1.03-1.79). 21049557 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 AlteredExpression disease BEFREE Nkx2-3 has been reported to be up-regulated in B cell lines and intestinal tissues from Crohn's disease patients and down-regulated in colorectal cancer. 20165982 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 GeneticVariation disease BEFREE Positive association of genetic variants in the upstream region of NKX2-3 with Crohn's disease in Japanese patients. 18936107 2009
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 GeneticVariation disease BEFREE In conclusion, no evidence of association with CD has been reported for the Crohn's disease susceptibility polymorphisms studied in the NKX2-3, ATG16L1, and IRGM genes. 19683022 2009
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 Biomarker disease BEFREE We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. 18438406 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 Biomarker disease CTD_human We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. 18438406 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 Biomarker disease CTD_human Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. 18438405 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 GeneticVariation disease BEFREE By contrast, variation in the gene encoding the interleukin-23 (IL-23) receptor subunit, as well as in the IL12B, STAT3 and NKX2-3 gene regions, is associated with both Crohn's disease and ulcerative colitis. 18500230 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 GeneticVariation disease LHGDN Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. 18438405 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.400 Biomarker disease CTD_human Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. 17554261 2007