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Table 6 Genotype-phenotype analysis1

From: The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease

Outcome

CT60 (rs3087243)

allele A

JO31 (rs11571302)

allele T

JO27-1 (rs11571297)

allele G

"ATG" haplotype

Pediatric age at diagnosis 2

1.85

(1.12 - 3.03);

p = 0.014

1.71

(1.03 - 2.85);

p = 0.035

1.70

(1.02 - 2.84);

p = 0.039

1.52

(1.09 - 2.11);

p = 0.014

Ileal involvement (L1)

0.41

(0.24 - 0.70);

p = 0.0012

0.45

(0.26 - 0.78);

p = 0.0052

0.43

(0.24 - 0.74);

p = 0.0027

0.70

(0.47 - 1.05);

p = 0.081

Ileocolonic involvement (L3) 3

1.97

(1.21 - 3.19);

p = 0.0059

1.91

(1.16 - 3.13);

p = 0.010

1.94

(1.18 - 3.20);

p = 0.0090

1.54

(1.09 - 2.17);

p = 0.014

  1. 1: OR with their 95%CI come from logistic regression analysis using dominant models, with the clinical phenotype as an outcome and CTLA4 CT60, JO31, JO27-1 minor variants and ATG haplotype as predictors; the models are adjusted for the p.Leu1007fsX1008 variant in the NOD2 gene.
  2. 2: Patients having been diagnosed before or at the age of 18 years.
  3. 3: Further, we tested interaction between NOD2 p.Leu1007fsX1008 variant and the CTLA4 ATG haplotype on development of L3. Comparing to wild haplotype on the background of the ATG haplotype the association of p.Leu1007fsX1008 NOD2 high risk variant was significantly weaker. P-value of the interaction between ATG haplotype and NOD2 p.Leu1007fsX1008 in the development of L3 was estimated 0.026.