Table 3:
Associations between genetic profiles and atopic dermatitis phenotypes in ALSPAC children
| Severe-Frequent* N=305 |
Moderate- Frequent* N=634 |
Moderate- Declining* N=1008 |
Mild-Intermittent* N=845 |
|||||
|---|---|---|---|---|---|---|---|---|
| Chr. | Nearest gene |
Global p- value† |
RRR (99% CI) | RRR (99% CI) | RRR (99% CI) | RRR (99% CI) | Equality p- value‡ |
|
| FLG null mutation | 4.26E-32 | 4.32 (3.07, 6.07) | 2.41 (1.81, 3.22) | 1.80 (1.39, 2.34) | 1.52 (1.13, 2.04) | 1.23E-10 | ||
| Polygenic risk score | 1.22E-28 | 1.67 (1.45, 1.93) | 1.37 (1.23, 1.52) | 1.17 (1.07, 1.27) | 1.13 (1.02, 1.24) | 8.60E-11 | ||
| Individual SNP associations | ||||||||
| rs11205006_a | 1 | LCE5A, FLG-AS1 | 9.94E-07 | 1.55 (1.24, 1.93) | 1.22 (1.03, 1.44) | 1.11 (0.97, 1.28) | 1.10 (0.95, 1.28) | 3.20E-03 |
| rs2228145_c | 1 | IL6R | 3.69E-04 | 1.31 (1.06, 1.63) | 1.15 (0.99, 1.34) | 0.95 (0.83, 1.08) | 0.93 (0.81, 1.07) | 1.49E-04 |
| rs61813875_g | 1 | LCE3E, CRCT1 | 8.63E-10 | 2.99 (1.79, 4.98) | 2.07 (1.34, 3.19) | 1.96 (1.36, 2.84) | 1.33 (0.84, 2.09) | 9.82E-03 |
| rs1057258_c | 2 | INPP5D | 5.81E-02 | 1.21 (0.90, 1.63) | 0.99 (0.81, 1.21) | 0.97 (0.82, 1.14) | 0.86 (0.72, 1.01) | 4.81E-02 |
| rs112111458_a | 2 | CD207 | 6.68E-02 | 1.18 (0.85, 1.65) | 1.00 (0.80, 1.25) | 1.17 (0.96, 1.42) | 0.91 (0.75, 1.10) | 4.42E-02 |
| rs13015714_g | 2 | IL18R1 | 5.40E-02 | 1.07 (0.83, 1.38) | 1.23 (1.03, 1.47) | 1.06 (0.92, 1.24) | 1.02 (0.87, 1.20) | 1.74E-01 |
| rs17389644_a | 4 | IL21 | 9.94E-02 | 1.17 (0.91, 1.51) | 1.07 (0.89, 1.29) | 1.15 (0.99, 1.33) | 1.02 (0.87, 1.21) | 4.36E-01 |
| rs10214237_t | 5 | IL7R | 3.01E-01 | 0.96 (0.75, 1.21) | 1.06 (0.89, 1.26) | 1.01 (0.88, 1.17) | 1.13 (0.96, 1.32) | 3.66E-01 |
| rs2897442_c | 5 | KIF3A | 4.78E-02 | 1.29 (1.02, 1.63) | 1.11 (0.93, 1.32) | 0.99 (0.86, 1.15) | 0.99 (0.85, 1.16) | 4.02E-02 |
| rs12153855_t | 6 | TNXB | 8.75E-03 | 1.04 (0.72, 1.50) | 1.42 (1.06, 1.91) | 1.07 (0.86, 1.33) | 1.22 (0.96, 1.56) | 1.32E-01 |
| rs6473227_c | 8 | ZBTB10 | 2.49E-01 | 1.12 (0.90, 1.40) | 1.09 (0.93, 1.28) | 1.07 (0.94, 1.22) | 1.06 (0.93, 1.22) | 9.47E-01 |
| rs10995251_c | 10 | ZNF365 | 5.82E-01 | 0.99 (0.79, 1.23) | 0.99 (0.84, 1.16) | 1.08 (0.95, 1.24) | 1.03 (0.89, 1.18) | 5.87E-01 |
| rs12295535_t | 11 | PRR5L | 8.22E-03 | 1.55 (0.92, 2.61) | 1.21 (0.80, 1.84) | 1.37 (0.99, 1.91) | 0.78 (0.50, 1.22) | 1.83E-02 |
| rs479844_g | 11 | OVOL1 | 1.17E-05 | 1.51 (1.21, 1.90) | 1.17 (1.00, 1.37) | 1.06 (0.93, 1.21) | 1.06 (0.92, 1.22) | 1.34E-03 |
| rs7127307_t | 11 | ETS1 | 5.28E-01 | 1.05 (0.84, 1.30) | 1.07 (0.92, 1.25) | 1.00 (0.88, 1.13) | 1.07 (0.94, 1.23) | 6.39E-01 |
| rs7927894_t | 11 | C11orf30 | 2.48E-02 | 1.21 (0.98, 1.50) | 1.09 (0.94, 1.28) | 0.96 (0.84, 1.09) | 1.10 (0.96, 1.26) | 3.74E-02 |
| rs2227483_t | 12 | IL22 | 9.80E-01 | 1.03 (0.83, 1.29) | 1.01 (0.86, 1.18) | 1.00 (0.88, 1.14) | 1.03 (0.90, 1.18) | 9.75E-01 |
| rs2143950_t | 14 | PPP2R3C | 1.19E-02 | 1.24 (0.95, 1.62) | 1.26 (1.04, 1.53) | 1.01 (0.86, 1.20) | 1.06 (0.89, 1.27) | 5.74E-02 |
| rs7146581_c | 14 | TRAF3 | 1.83E-01 | 1.09 (0.84, 1.42) | 1.16 (0.96, 1.40) | 1.09 (0.94, 1.27) | 1.04 (0.88, 1.22) | 6.78E-01 |
| rs2041733_t | 16 | CLEC16A | 4.41E-01 | 0.98 (0.79, 1.22) | 1.12 (0.96, 1.30) | 1.00 (0.88, 1.14) | 1.03 (0.90, 1.18) | 4.20E-01 |
| rs11657987_t | 17 | PGS1 | 9.36E-02 | 1.22 (0.99, 1.51) | 1.09 (0.94, 1.27) | 1.02 (0.90, 1.15) | 1.06 (0.92, 1.21) | 2.44E-01 |
| rs16948048_g | 17 | ZNF652 | 7.69E-02 | 1.18 (0.95, 1.46) | 0.92 (0.79, 1.08) | 0.98 (0.86, 1.11) | 0.92 (0.80, 1.06) | 5.50E-02 |
| rs17881320_t | 17 | STAT3 | 2.25E-01 | 1.30 (0.91, 1.86) | 1.12 (0.85, 1.47) | 1.13 (0.90, 1.41) | 1.09 (0.86, 1.39) | 7.37E-01 |
| rs2164983_a | 19 | ACTL9 | 1.26E-05 | 1.34 (1.02, 1.77) | 1.40 (1.15, 1.70) | 1.16 (0.98, 1.37) | 1.18 (0.99, 1.42) | 1.49E-01 |
| rs6010620_g | 20 | RTEL1 | 9.39E-02 | 1.14 (0.88, 1.47) | 1.17 (0.97, 1.41) | 1.05 (0.90, 1.21) | 1.11 (0.94, 1.30) | 6.05E-01 |
*
compared with the Unaffected/Rare population, n=4990
†
null hypothesis: RRR1=RRR2=RRR3=RRR4=0
‡
null hypothesis: RRR1=RRR2=RRR3=RRR4. FLG=filaggrin gene; SNP=single nucleotide polymorphism; Chr=chromosome; RRR=relative risk ratio; CI=confidence interval.