Table 1.
Association of IL17-IL23 pathway-related haplotypes with CD
| Gene | Percent Controls with Haplotype Present |
Percent CD with Haplotype Present |
p empirical* |
Odds Ratio |
95% Confidence Interval |
Estimate of Population Attributable Risk or of Prevented Fraction |
||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| n=257 | n=763 | |||||||||||||
|
IL17A 1) all subjects |
rs2275913 | rs3819025 | rs10484879 | rs1974226 | ||||||||||
| H1 | G | G | C | G | 68.1% | 67.8% | ||||||||
| H2 | A | G | A | G | 37.0% | 41.3% | ||||||||
| H3 | G | G | C | A | 32.7% | 37.4% | ||||||||
| protective | H4 | A | G | C | G | 20.5% | 13.5% | 0.010 | 0.020 | 0.61 | 0.42,0.88 | − 0.08 | ||
| H5 | G | A | C | G | 11.0% | 9.8% | ||||||||
| 2) Ashkenazi Jewish subjects | rs2275913 | rs3819025 | rs10484879 | rs1974226 | ||||||||||
| H1 | G | G | C | G | 58.8% | 68.8% | ||||||||
| protective | H2 | A | G | A | G | 56.9% | 40.1% | 0.017 | 0.018 | 0.51 | 0.28,0.92 | −0.28 | ||
| H3 | G | G | C | A | 33.3% | 39.2% | ||||||||
| H4 | A | G | C | G | 5.9% | 9.9% | ||||||||
| H5 | G | A | C | G | 13.7% | 11.2% | ||||||||
| 3) non-Jewish subjects | rs2275913 | rs3819025 | rs10484879 | rs1974226 | ||||||||||
| H1 | G | G | C | G | 70.4% | 67.0% | ||||||||
| risk | H2 | A | G | A | G | 32.0% | 42.1% | 0.012 | 0.009 | 1.54 | 1.12,2.26 | + 0.15 | ||
| H3 | G | G | C | A | 32.5% | 36.1% | ||||||||
| protective | H4 | A | G | C | G | 24.1% | 16.0% | 0.009 | 0.018 | 0.59 | 0.39,0.89 | − 0.10 | ||
| H5 | G | A | C | G | 10.3% | 8.9% | ||||||||
| IL17RA (all subjects) | ||||||||||||||
| 1) Block 1 | rs5748864 | rs6518660 | ||||||||||||
| H1 | G | A | 92.5% | 95.0% | ||||||||||
| H2 | A | G | 27.2% | 24.1% | ||||||||||
| protective | H3 | A | A | 15.8% | 7.5% | 0.000 | 0.001 | 0.43 | 0.28,0.67 | − 0.09 | ||||
| 2) Block 2 | rs721930 | rs2241046 | rs2241049 | rs879574 | rs879577 | rs882643 | ||||||||
| H1 | C | A | A | T | A | G | 40.6% | 38.8% | ||||||
| H2 | G | A | G | T | G | G | 31.5% | 37.0% | ||||||
| H3 | C | G | A | T | G | G | 36.6% | 35.0% | ||||||
| risk | H4 | C | A | A | A | G | G | 18.9% | 27.0% | 0.006 | 0.007 | 1.59 | 1.12,2.26 | + 0.10 |
| H5 | C | A | G | T | G | C | 27.2% | 24.1% | ||||||
| IL17RD (all subjects) | ||||||||||||||
| 1) Block 1 | rs6809523 | rs2129821 | rs17057718 | rs6780995 | rs747089 | rs6810042 | ||||||||
| H1 | A | T | C | A | C | G | 64.7% | 71.2% | ||||||
| protective | H2 | A | T | C | A | C | A | 50.2% | 39.1% | 0.002 | 0.001 | 0.64 | 0.48,0.85 | −0.18 |
| H3 | G | T | T | G | T | G | 30.5% | 31.5% | ||||||
| H4 | G | G | C | G | C | G | 17.7% | 19.8% | ||||||
| 2) Block 2 | rs12495640 | rs6788981 | rs7374667 | |||||||||||
| H1 | T | C | T | 49.0% | 54.8% | |||||||||
| risk | H2 | T | C | C | 45.4% | 55.0% | 0.009 | 0.006 | 1.47 | 1.1,1.97 | +0.17 | |||
| protective | H3 | C | C | C | 47.4% | 37.8% | 0.008 | 0.007 | 0.68 | 0.51,0.90 | −0.15 | |||
| H4 | C | T | C | 28.1% | 27.6% | |||||||||
| IL12B (all subjects) | ||||||||||||||
| rs3212227 | rs2853694 | |||||||||||||
| protective | H1 | A | A | 77.2% | 68.3% | 0.008 | 0.003 | 0.64 | 0.46,0.87 | − 0.28 | ||||
| H2 | A | C | 47.2% | 54.0% | ||||||||||
| H3 | C | C | 39.0% | 36.8% | ||||||||||
| IL12RB1 (all subjects) | ||||||||||||||
| rs375947 | rs436857 | |||||||||||||
| risk | H1 | A | G | 83.5% | 90.2% | 0.007 | 0.003 | 1.82 | 1.21,2.73 | +0.40 | ||||
| H2 | G | A | 37.0% | 35.5% | ||||||||||
| H3 | G | G | 24.4% | 24.8% | ||||||||||
|
IL12RB2 1) all subjects |
rs1495964 | rs1908632 | rs11209063 | |||||||||||
| H1 | T | T | T | 79.0% | 78.5% | |||||||||
| H2 | C | T | T | 33.9% | 31.9% | |||||||||
| risk | H3 | C | G | T | 21.4% | 30.3% | 0.010 | 0.002 | 1.6 | 1.14,2.24 | +0.11 | |||
| protective | H4 | C | G | G | 24.9% | 16.6% | 0.010 | 0.05 | 0.6 | 0.43,0.84 | −0.10 | |||
| 2) Ashkenazi Jewish subjects | rs1495964 | rs1908632 | rs11209063 | |||||||||||
| risk | H1 | T | T | T | 64.2% | 78.6% | 0.017 | 0.017 | 2.04 | 1.1,3.8 | +0.4 | |||
| H2 | C | T | T | 32.1% | 26.5% | |||||||||
| H3 | C | G | T | 22.6% | 39.8% | 0.043 | 0.023 | 2.25 | 1.14,4.46 | +0.22 | ||||
| protective | H4 | C | G | G | 45.3% | 19.9% | 0.003 | 0.001 | 0.3 | 0.16,0.55 | −0.32 | |||
| 3) non- Jewish subjects |
rs1495964 | rs1908632 | rs11209063 | |||||||||||
| H1 | T | T | T | 82.5% | 79.4% | |||||||||
| H2 | C | T | T | 35.4% | 34.9% | |||||||||
| H3 | C | G | T | 20.4% | 23.0% | |||||||||
| H4 | C | G | G | 19.4% | 16.1% | |||||||||
Haplotypes with frequency > 5% are shown
Variants are reported as the nucleotide on the forward strand of the NCBI Genome Build 36 and dbSNP v 126.
*
p empirical obtained by 1000 permutations of CD status with respect to haplotype (see Methods).