Table 1.
Genes Prioritized at Atopic Dermatitis GWAS Loci
Locus | GWAS Index Variant | Nearest Genes | Top-Ranked Gene | Second-Ranked Gene | Third-Ranked Gene |
---|---|---|---|---|---|
1q21.3 - a | rs61813875 | CRCT1/LCE3E | HRNR (464, 28%) | RPTN (285, 17%) | CRNN (249, 15%) |
1q21.3 - b | rs12730935 | IL-6R | IL-6R (743, 62%)1 | UBE2Q1 (93, 8%) | ADAR (61, 5%) |
2p13.3 | rs112111458 | CD207/VAX2 | CD207 (272, 45%)1 | CLEC4F (62, 10%) | VAX2 (56, 9%) |
2q12.1 | rs6419573/rs39172652 | IL-18R1/IL-18RAP | IL-18R1 (1,384, 39%)1 | IL-18RAP (1,341, 38%)1 | IL1RL1 (224, 6%) |
2q37.1 | rs1057258 | INPP5D | INPP5D (296, 57%)1 | ATG16L1 (106, 20%) | RN7SL32P (29, 6%) |
4q27 | rs6827756/rs131523622 | KIAA1109 | KIAA1109 (220, 35%)1 | BBS12 (112, 18%) | TRPC3 (100, 16%) |
5p13.2 | rs10214237 | IL-7R/CAPSL | IL-7R (965, 65%)1 | SPEF2 (203, 14%) | UGT3A2 (89, 6%) |
5q31.1 - a | rs12188917 | TH2LCRR | SLC22A5 (461, 35%) | IRF1 (303, 23%) | RAD50 (122, 9%) |
5q31.1 - b | rs47059622 | KIF3A | KIF3A (249, 23%)1 | SLC22A5 (247, 23%) | PDLIM4 (142, 13%) |
6p21.32 | rs4713555 | STAT3 | HLA-DRA (1,405, 30%) | HLA-DQB1 (689, 15%) | HLA-DRB1 (566, 12%)1 |
6p21.33 | rs41293864 | MICB | HSPA1B (173, 15%) | HCG27 (165, 14%) | CSNK2B (152, 13%) |
8q21.13 | rs6473227 | MIR5708/ZBTB10 | ZBTB10 (192, 41%)1 | TPD52 (70, 15%) | PAG1 (69, 15%) |
10p15.1 | rs6602364 | IL2RA/IL15RA | IL-2RA (333, 45%)1 | RBM17 (111, 15%) | PFKFB3 (51, 7%) |
10q21.2 | rs2944542 | ZNF365 | ADO (615, 61%) | ZNF365 (101, 10%)1 | EGR2 (90, 9%) |
11p13 | rs2592555/rs122955352 | PRR5L | PRR5L (598, 79%)1 | TRAF6 (65, 9%) | COMMD9 (34, 5%) |
11q13.1 | rs10791824 | OVOL1 | CTSW (336, 23%) | OVOL1 (236, 16%)1 | EFEMP2 (168, 11%) |
11q13.5 | rs2212434 | C11orf30/LRRC32 | LRRC32 (545, 43%)1 | EMSY (521, 41%)1 | THAP12 (47, 4%) |
11q24.3 | rs7127307 | –/ETS1 | ETS1 (298, 75%)1 | FLII (35, 9%) | APLP2 (18, 5%) |
12q15 | rs2227483 | IL22 | MDM1 (728, 70%) | IL-22 (99, 10%)1 | IFNG (57, 5%) |
14q13.2 | rs2038255 | PPP2R3C | PPP2R3C (996, 31%)1 | KIAA0391 (814, 25%) | SRP54 (433, 13%) |
14q32.32 | rs7146581 | TRAF3 | TRAF3 (848, 55%)1 | AMN (281, 18%) | CDC42BPB (186, 12%) |
16p13.13 | rs2041733 | CLEC16A | DEXI (376, 34%) | CLEC16A (364, 33%)1 | RMI2 (108, 10%) |
17q21.2 | rs12951971 | STAT3 | DHX58 (254, 32%) | STAT3 (101, 13%)1 | RAB5C (100, 13%) |
17q25.3 | rs11657987 | PGS1 | PGS1 (205, 46%)1 | DNAH17 (73, 16%) | SOCS3 (52, 12%) |
19p13.2 | rs2918307 | ADAMTS10/ACTL9 | ACTL9 (115, 41%)1 | ADAMTS10 (57, 20%)1 | MAP2K7 (34, 12%) |
20q13.33 | rs4809219 | RTEL1/TNFRSF6B | STMN3 (608, 27%) | LIME1 (473, 21%) | ARFRP1 (257, 12%) |
Abbreviation: STAT, signal transducer and activator of transcription.
The two values given in parentheses in the top three ranked gene columns correspond to the gene prioritization score and the percentage of the total score for locus top 10 genes.
The closest genes to the index variant (in either direction).
Index SNP for secondary signal, where the pipeline did not give different gene prioritizations for the two signals; these are presented on one row.