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

BMC Medical Genetics

Table 5 Stratified analysis of the effect conferred by the CTLA4 CT60, JO31 and JO27-1 variants

IL23Rstratum defined using the p.Arg381Gln polymorphism ¹⁾	CT60 (rs3087243), A carriage rate (genotypes A/G, A/A)	JO31 (rs11571302), T carriage rate (genotypes G/T, T/T)	JO27-1 (rs11571297), G carriage rate (genotypes A/G, G/G)	Haplotype "ATG" ⁴
*IL23R*"-"
cases, n = 21	10 (48%)	10 (48%)	10 (48%)
controls, n = 50	42 (84%)	40 (80%)	40 (80%)
OR (95%CI) ²⁾	0.23 (0.07-0.71)	0.26 (0.08-0.85)	0.24 (0.07-0.79)	0.30 (0.11 - 0.81)
*IL23R* "wt/wt"
cases, n = 312	214 (69%)	224 (72%)	227 (73%)
controls, n = 432	276 (64%)	292 (68%)	296 (69%)
OR (95%CI) ²⁾	1.26 (0.91-1.74)	1.22 (0.87-1.71)	1.21 (0.86-1.69)	1.20 (0.96 - 1.51)
Heterogeneity between *IL23R* -defined strata ³⁾	p = 0.0061	p = 0.011	p = 0.011	p = 0.030

Strata of the risk conferred by the p.Arg381Gln polymorphism of the IL23R gene: the effect of CTLA4 is apparent in the stratum with an IL23R- associated protective effect
1) IL23R "-": homozygote or heterozygote for the IL23R p.381Gln allele; IL23R "wt/wt": wild-type homozygote at the p.Arg381Gln polymorphism. The IL23R "-" category is associated with a decreased risk of OR = 0.58, 95%CI 0.32 - 1.00 as compared to the "wt/wt" category.
2) OR for the effect of the polymorphism in the specific stratum (IL23R "-" or IL23R "wt/wt"), adjusted for the effect of p.Leu1007fsX1008, p.Gly908Arg, and p.Arg702Trp in the NOD2 gene. Results significant at p < 0.05 are in bold.
3) heterogeneity in the effect conferred by the CTLA4 polymorphisms was assessed between IL23R-defined strata using the Mantel-Haenszel test of homogeneity.
4) The implemented expectation-maximization algorithm did not allow individual imputation and counting of haplotypes.

ISSN: 1471-2350