|
rs104895461
|
|
Crohn Disease
|
|
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 |
|
rs104895467
|
|
Crohn Disease
|
|
0.720 |
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 |
|
rs104895467
|
|
Crohn Disease
|
|
0.720 |
GeneticVariation
|
BEFREE |
In contrast, JW1 and N852S polymorphisms may not be related to CD susceptibility in these patients.
|
24782627 |
2014 |
|
rs104895482
|
|
Crohn Disease
|
|
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 |
|
rs104895483
|
|
Crohn Disease
|
|
0.710 |
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
|
|
Crohn Disease
|
|
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
|
|
Crohn Disease
|
|
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
|
|
Crohn Disease
|
|
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
|
|
Crohn Disease
|
|
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 |
|
rs1292975971
|
|
Crohn Disease
|
|
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
|
|
Crohn Disease
|
|
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
|
|
Crohn Disease
|
|
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
|
|
Crohn Disease
|
|
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 |
|
rs1369602268
|
|
Crohn Disease
|
|
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 |
|
rs1384936174
|
|
Crohn Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand Caucasians with inflammatory bowel disease.
|
17894849 |
2007 |
|
rs1384936174
|
|
Crohn Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The ATG16L1 gene variants rs2241879 and rs2241880 (T300A) are strongly associated with susceptibility to Crohn's disease in the German population.
|
18162085 |
2008 |
|
rs1384936174
|
|
Crohn Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The association of T300A was replicated in the independent sample of 727 Crohn's disease cases (P = .001), and was strongly associated in the extended analysis of 1236 Crohn's cases (P = 2.4 x 10(-6)).
|
17484864 |
2007 |
|
rs1384936174
|
|
Crohn Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The Thr300Ala polymorphism is associated with CD, regardless of the CARD15 or IL23R status, but not with UC.
|
19575361 |
2009 |
|
rs1384936174
|
|
Crohn Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
We confirm the strong association between T300A and CD, specifically ileal subphenotype, and also report the first strong association of this variant with UC.
|
18671817 |
2008 |
|
rs1384936174
|
|
Crohn Disease
|
|
0.100 |
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 |
|
rs1384936174
|
|
Crohn Disease
|
|
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
|
|
Crohn Disease
|
|
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
|
|
Crohn Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
As no epistatic interaction with three common NOD2/CARD15 mutations was observed, the p.Thr300Ala substitution is an independent risk factor for paediatric CD and supports the role for autophagy in disease pathogenesis.
|
19659808 |
2009 |
|
rs1384936174
|
|
Crohn Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880).
|
20082483 |
2010 |
|
rs1384936174
|
|
Crohn Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The association of ATG16L1 T300A with CD was confirmed [P = 0.004, odds ratio (OR) = 1.69, 95% CI: 1.19-2.41], and both IL23R variants were found to represent significant risk for the disease (P = 0.008, OR = 2.05, 95% CI: 1.20-3.50 for rs1004819 AA; P < 0.001, OR = 2.97, 95% CI: 1.65-5.33 for rs2201841 CC).
|
20066736 |
2010 |