Table 2. Susceptibility loci associated with atopic dermatitis in Japanese and Chinese replication case-control studies.
Key genes (+N additional in locus) |
Immunochip+Replication Europeans (4,376/10,048) |
Replication Japan (2,397/7,937) |
Replication China (2,848 /2,944) |
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Chr | Association boundaries (kb) |
dbSNP id | A1 | A2 | P | OR (95% CI) | P | OR (95% CI) | P | OR (95% CI) | |
(a) Previously reported atopic dermatitis susceptibility loci
*
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1q21.3 | 150803-151051 | rs72702813 | T | G | LCE3A (15) | 1.49×10−33 | 2.06(1.83-2.31) | - | - | 0.3261 | 1(0-∞) |
2q12.1 | 102225-102619 | rs759382 | C | A | SLC9A4 (5) | 6.01×10−11 | 1.22(1.15-1.29) | 1.36×10−9 | 1.22(1.15-1.30) | 0.4540 | 0.97(0.90-1.05) |
5q31.1 | 131812-132167 | rs848 | T | G | IL13 (8) | 8.22×10−28 | 1.40(1.32-1.49) | 5.14×10−10 | 1.24(1.16-1.33) | 1.28×10−6 | 1.21(1.12-1.31) |
11q13.5 | 75724-76017 | rs7110818 | A | G | C11orf30 (1) | 3.33×10−16 | 1.28(1.21-1.36) | 6.34×10−6 | 1.16(1.09-1.24) | 0.0320 | 1.08(1.01-1.17) |
20q13.33 | 61678-61872 | rs909341 | A | G | TNFRSF6B (8) | 7.77×10−16 | 0.77(0.72-0.82) | 7.74×10−4 | 0.83(0.84-0.95) | 1.52×10−7 | 0.82(0.76-0.88) |
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(b) New atopic dermatitis susceptibility loci
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4q27 | 123204-123784 | rs17389644 | A | G | IL2/IL21 (2) | 1.39×10−8 | 1.19(1.12-1.26) | 0.2492 | 1.06(0.96 −1.18) | 0.1599 | 1.08(0.97-1.21) |
11p13 | 36355-36438 | rs12295535 | A | G | PRR5L | 7.96×10−13 | 1.68(1.46-1.93) | 0.0074 | 1.31 (1.08-1.60) | 0.1588 | 1.13(0.95-1.34) |
16p13.13 | 10930-11218 | rs2041733 | A | G | CLEC16A/DEXI | 3.44×10−15 | 1.23(1.17-1.29) | 0.0063 | 1.09(1.03-1.18) | 1.23×10−4 | 1.18(1.08-1.28) |
17q21.32 | 44641-44875 | rs16948048 | G | A | ZNF652 (5) | 2.92×10−9 | 1.17(1.11-1.23) | 1.87×10−5 | 1.22(1.12-1.34) | 0.04224 | 1.10(1.00-1.20) |
We replicated the association at the 20q13.33/TNFRSF6B and the 2q12.1/SLCA4 locus, previously reported in Chinese and Japanese populations, respectively, with GWS in Europeans. Two other known atopic dermatitis loci in Europeans from previous GWAS (OVOL1, ACTL9) are sparsely covered on the Immunochip (see also main text and Supplementary Fig. 1). Chr: chromosome of marker; Association boundaries: association boundaries for each index SNP (Online Methods). Genomic positions were retrieved from NCBI’s dbSNP build v130 (genome build hg18); dbSNP id: rs ID; A1: minor allele; A2: major allele; Key gene(s): candidate gene(s) in the region; P/OR: P-value and corresponding odds ratio and 95% confidence interval with respect to minor allele. For each panel, numbers of atopic dermatitis cases/controls are displayed in parentheses. rs72702813 failed replication genotyping in the Japanese study due to technical reasons.