Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population

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Atopic dermatitis is a chronic, relapsing form of inflammatory skin disorder that is affected by genetic and environmental factors. We performed a genome-wide association study of atopic dermatitis in a Chinese Han population using 1,012 affected individuals (cases) and 1,362 controls followed by a replication study in an additional 3,624 cases and 12,197 controls of Chinese Han ethnicity, as well as 1,806 cases and 3,256 controls from Germany. We identified previously undescribed susceptibility loci at 5q22.1 (TMEM232 and SLC25A46, rs7701890, Pcombined = 3.15 × 10−9, odds ratio (OR) = 1.24) and 20q13.33 (TNFRSF6B and ZGPAT, rs6010620, Pcombined = 3.0 × 10−8, OR = 1.17) and replicated another previously reported locus at 1q21.3 (FLG, rs3126085, Pcombined = 5.90 × 10−12, OR = 0.82) in the Chinese sample. The 20q13.33 locus also showed evidence for association in the German sample (rs6010620, P = 2.87 × 10−5, OR = 1.25). Our study identifies new genetic susceptibility factors and suggests previously unidentified biological pathways in atopic dermatitis.

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Figure 1: Genome-wide association results from the initial GWAS analysis.
Figure 2: Association scatter plots for four atopic dermatitis susceptibility loci.


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We thank the individuals and their families who participated in this project. This study was funded by General Program of National Natural Science Foundation of China (81072461, 81071284, 30771196, 30771942, 30800990, 30800610) and the High-Tech Research and Development Program of China (863 Plan) (2007AA02Z161), the Key Project of Natural Science Foundation of China (30530670), Anhui Provincial Special Scientific Program (2007-7) and the National Basic Research Program of China (973 Plan) (2007B516801). S.W. is supported by a Heisenberg fellowship and a grant from the German Research Council DFG (WE2678/4–1, WE2678/6–1) as well as a grant from the German Ministry of Education and Research (BMBF) as part of the National Genome Research Network (NGFN grant 01GS 0818).

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X.-J.Z. conceived of this study and obtained financial support. X.-J.Z., Z.-R.Y., S.Y., L.-D.S., F.-L.X., Y. Li and W.-M.Z. participated in the design and were responsible for sample selection, genotyping and project management. H.Z., A.F., H.S., R.F.-H., S.W., M.S., Q.L., X.-L.C., Y.-F.G., Ming L., Y.-H.Z., J.-P.T., H.W., X.-Y.Z., X.-Y. Liu, L.M., A.-P.J., X.-H.G., C.-X.T., S.-P.S., Z.-Y.L., X.-L.Z., J.C., X.-Y. Luo, X.D., W.S., C.-P.S., X.-B.F., X.-P.H., J.-Q.H., Y.W., Y.-X.B., S.-M.H., Y.-M.L., K.-J.Z., D.-Y.H., Min L., X.Z., B.-R.G., Y. Liu, S.-M.Z., X.-Y.Y., Y.-Q.R., Y.C., M.G., P.-G.W., H.L., S.-X.L., C.-J.Y., G.-S.L., Z.-X.W., H.-Y.T. and X.F. conducted sample selection and data management, undertook recruitment, collected phenotype data, undertook related data handling and calculation, managed recruitment and obtained biological samples. F.-S.Z., G.C., X.-D.Z. and P.L. performed genotyping analysis. J.-J.L., H.-Y.T., X.-F.T. and X.-B.Z. undertook data processing, statistical analysis and bioinformatics investigations. All the authors contributed to the final paper, with X.-J.Z., Z.-R.Y., S.Y., L.-D.S., F.-L.X., Y. Li and W.-M.Z. having key roles.

Correspondence to Zhi-Rong Yao or Xue-Jun Zhang.

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