Novel Signal was identified in the IgE GWAS
The Manhattan plot and QQ plot (λGC:1.05) were shown inFigure 1 . The LDSC demonstrated an intercept of 1.01 (SE,
0.009), and heritability of IgE was 10.7% (SE, 4.1%), which
demonstrated the polygenic effect of IgE. After conditional analysis, a
total of 8 independent significant loci were identified (Table
2) . The most significant SNP- rs147642819 (6p21.32) was
within the intronic region ofHLA-DRA. The intronic SNP of CD28 rs1181388 (p =
2.5×10-12) on 2q33.2 and an intergenic SNP
rs1002957030 (p = 4.7×10-8) on 11q23.2 were novel
signal for IgE. Six independent signals within chr6 were found
included 6p22.1, 6p21.32, and 6q23.3 region (S Figure 2 ). We
also identified an intergenic SNP rs112731607 (IL4R; IL21R ) at
16p12.1 as GWAS significance. This region has been reported associated
with total serum IgE in a Japanese population as
well9. After conducting a meta-analysis with Japanese
population (ToMMo), six of the SNPs demonstrated a significant level of
association. Among them, rs369358206 within the intergenic region ofHLA-DQA1/HLA-DQB1 is the most significant SNP with
pmeta = 1.7×10-23. No increased
significance was observed for on chr11 due to lack of SNP results.
Although there were no results of lead SNP (rs112731607) in ToMMo for
16q12.1, but another SNP nearby named rs144651842 showed genome-wide
significance after meta-analysis (beta=0.18, SE:0.02,
pmeta = 9.75×10-17).