|
rs758548184
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In all subjects, just one band of 151 bp, corresponding to wild-type N852S, was found, and no other N852S mutant bands (151+129+22 and 129+22 bp) were detected using PCR-RFLP fragment electrophoresis.The CTLA-4 gene +49 A/G polymorphism and the NOD2/CARD15 gene N852S polymorphism were not associated with CD or UC in a Turkish population.
|
30213296 |
2018 |
|
rs72796353
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast to the strong associations of the NOD2 SNPs rs2066844 (p=3.51 x 10(-3)), rs2066845 (p=1.54 x 10(-2)), and rs2066847 (p=1.61 x 10(-20)) with CD susceptibility, no significant association of rs72796353 with CD or UC susceptibility was found.
|
26147989 |
2015 |
|
rs376201089
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), 1.67×10(-6), and 1.87×10(-2) for 1007fs, R720W, and G908R, respectively), but not with ulcerative colitis (p=0.1046, 0.1269, and 0.8929, respectively).
|
23709157 |
2013 |
|
rs3135500
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A heterozygous single nucleotide polymorphism rs3135500 C > Y in the exon 12.3 was detected in a 10-year-old girl with mild severity of CD and history of rectovaginal and perianal fistula, and multiple skin tags.
|
22139875 |
2011 |
|
rs527892258
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) in TLR9, the main CD-associated variants within the genes for NOD2, IL23R, ATG16L1, and variants in the IBD5 locus and in the DLG5 gene were assessed in 956 patients with IBD (606 CD and 350 ulcerative colitis) and in 792 healthy controls.
|
19455129 |
2009 |
|
rs747581406
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) in TLR9, the main CD-associated variants within the genes for NOD2, IL23R, ATG16L1, and variants in the IBD5 locus and in the DLG5 gene were assessed in 956 patients with IBD (606 CD and 350 ulcerative colitis) and in 792 healthy controls.
|
19455129 |
2009 |
|
rs1369602268
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we demonstrate that in Crohn's disease (CD), the CXCL16 p.Ala181Val polymorphism is not a disease susceptibility gene but associated with younger age at disease onset (p=0.016) and higher frequency of ileal involvement (p=0.024; OR 2.17; 95% CI 1.12-4.21) in ValVal carriers compared to a higher frequency of colonic involvement in AlaAla carriers (p=0.009; OR 2.60; CI 1.29-5.25).
|
18248772 |
2008 |
|
rs104895482
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using this approach, eight novel amino acid substitutions [c.1171C>T (p.R391C), c.1387C>G (p.P463A), c.2138G>A (p.R713H), c.2278C>T (p.R760C), c.2368C>T (p.R790W), c.2371C>T (p.R791W), c.2475C>G (p.N825K), and c.2546C>T (p.A849V)] were detected in six CD and two IC patients, and one UC patient.
|
16485124 |
2006 |
|
rs104895484
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using this approach, eight novel amino acid substitutions [c.1171C>T (p.R391C), c.1387C>G (p.P463A), c.2138G>A (p.R713H), c.2278C>T (p.R760C), c.2368C>T (p.R790W), c.2371C>T (p.R791W), c.2475C>G (p.N825K), and c.2546C>T (p.A849V)] were detected in six CD and two IC patients, and one UC patient.
|
16485124 |
2006 |
|
rs104895485
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using this approach, eight novel amino acid substitutions [c.1171C>T (p.R391C), c.1387C>G (p.P463A), c.2138G>A (p.R713H), c.2278C>T (p.R760C), c.2368C>T (p.R790W), c.2371C>T (p.R791W), c.2475C>G (p.N825K), and c.2546C>T (p.A849V)] were detected in six CD and two IC patients, and one UC patient.
|
16485124 |
2006 |
|
rs104895486
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using this approach, eight novel amino acid substitutions [c.1171C>T (p.R391C), c.1387C>G (p.P463A), c.2138G>A (p.R713H), c.2278C>T (p.R760C), c.2368C>T (p.R790W), c.2371C>T (p.R791W), c.2475C>G (p.N825K), and c.2546C>T (p.A849V)] were detected in six CD and two IC patients, and one UC patient.
|
16485124 |
2006 |
|
rs1199323686
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using this approach, eight novel amino acid substitutions [c.1171C>T (p.R391C), c.1387C>G (p.P463A), c.2138G>A (p.R713H), c.2278C>T (p.R760C), c.2368C>T (p.R790W), c.2371C>T (p.R791W), c.2475C>G (p.N825K), and c.2546C>T (p.A849V)] were detected in six CD and two IC patients, and one UC patient.
|
16485124 |
2006 |
|
rs104895461
|
|
|
0.010 |
GeneticVariation |
BEFREE |
His healthy mother, father and brother did not carry the R334Q mutation, which was thus considered a neo-mutation, nor did they carry the other mutation, usually found in Crohn's disease.
|
15554080 |
2004 |
|
rs191901394
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Findings similar to the study by Brand and colleagues in this issue of American Journal of Gastroenterology suggest that panels of susceptibility alleles and polymorphisms will ultimately allow an early genetic determination that will correspond with unique clinical patterns of CD: increased expression of the chemokine fractalkine in Crohn's disease and association of the factalkine receptor T280M polymorphism with a fibrostenosing disease phenotype.
|
16405541 |
2006 |
|
rs191901394
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Increased expression of the chemokine fractalkine in Crohn's disease and association of the fractalkine receptor T280M polymorphism with a fibrostenosing disease Phenotype.
|
16405540 |
2006 |
|
rs1292975971
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Genotyping included CARD15/NOD2 variants p.Arg702Trp, p.Gly908Arg, and p.Leu1007fsX1008 and polymorphisms in SLC22A4/OCTN1 (1672 C-->T) and SLC22A5/OCTN2 (-207 G-->C) as well as 10 CD-associated IL23R variants.
|
18162085 |
2008 |
|
rs1292975971
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Genetic association between Crohn's disease (CD) and OCTN1 (SLC22A4) C1672T/OCTN2 (SLC22A5) G-207C variants in IBD5 has recently been reported.
|
16361305 |
2006 |
|
rs1292975971
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Genotyping of the three common CD-associated CARD15 variants (Arg702Trp, Gly908Arg and 1007finsC changes) with the SLC22A4 1672C-->T, and SLC22A5 -207G-->C mutations was performed by direct sequencing of the specific regions of these genes.
|
17006998 |
2006 |
|
rs1292975971
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The polymorphisms in DLG5 (113 G-->A, 4136 C-->A, and DLG5_e26), SLC22A4 (1672 C-->T), and SLC22A5 (-207 G-->C) were assessed in 625 patients with Crohn's disease (CD), 363 patients with ulcerative colitis (UC), and 1012 healthy controls.
|
15955786 |
2005 |
|
rs1384936174
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Antichitobioside was positive in 28% of patients with CD carrying the ATG16L1 A300T variant (either heterozygote or homozygote) compared with only 3% in those without the variant (P < 0.001).
|
30265311 |
2019 |
|
rs771184127
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Polymorphisms of NOD2 (R702W, G908R and L1007fs) and TLR4 (Asp299Gly and Thr399Ile) genes were analyzed in 106 patients with IBD (68 with ulcerative colitis [UC], 38 with Crohn's disease [CD]) and 160 healthy controls using polymerase chain reaction-restriction fragment length polymorphism.
|
29055077 |
2017 |
|
rs771184127
|
|
|
0.100 |
GeneticVariation |
BEFREE |
D299G and T399I were related to CD only in patients carrying NOD2 variants (NOD2+/TLR4+ haplotype) (p=0.036; OR=1.924), increasing the risk to develop CD when 1007insC and TLR4 variants were both present (OR=4.886).
|
27290609 |
2016 |
|
rs1384936174
|
|
|
0.100 |
GeneticVariation |
BEFREE |
CD was associated with NOD2 carrier (6.93% CD, 2.15% Controls, P = 0.007), ATG16L1 Thr300Ala (36.1% CD, 29.3% Controls, P = 0.003), SLC22A4 and SLC22A5 (IBD5 locus) functional SNPs (Leu503Phe [10.5% CD, 7.6% Controls, P = 0.05] and g-207c [41.3% CD, 35.7% Controls, P = 0.03], respectively), and IL23R rs2201841 (18.2% CD, 13.8% Controls, P = 0.03), but not IRGM variants, nor three African ancestral NOD2 nonsynonymous variants.IBD5 risk was recessive.
|
22411504 |
2012 |
|
rs1384936174
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The CD associated T300A variant is located in the c-terminal WD40 domain, whose function is still unknown.
|
21146253 |
2011 |
|
rs1384936174
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Nod2-dependent signaling was not impaired in cells with the ATG16L1 T300A genotype, which is associated with CD.
|
20637199 |
2010 |