Variants at HLA-A, HLA-C, and HLA-DQB1 Confer Risk of Psoriasis Vulgaris in Japanese Jun Hirata, Tomomitsu Hirota, Takeshi Ozeki, Masahiro Kanai, Takeaki.

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Variants at HLA-A, HLA-C, and HLA-DQB1 Confer Risk of Psoriasis Vulgaris in Japanese Jun Hirata, Tomomitsu Hirota, Takeshi Ozeki, Masahiro Kanai, Takeaki Sudo, Toshihiro Tanaka, Nobuyuki Hizawa, Hidemi Nakagawa, Shinichi Sato, Taisei Mushiroda, Hidehisa Saeki, Mayumi Tamari, Yukinori Okada Journal of Investigative Dermatology Volume 138, Issue 3, Pages 542-548 (March 2018) DOI: 10.1016/j.jid.2017.10.001 Copyright © 2017 The Authors Terms and Conditions

Figure 1 A Manhattan plot of the genome-wide association study (GWAS) of psoriasis vulgaris in the Japanese population. A Manhattan plot showing –log10(P) of the genome-wide single nucleotide polymorphisms (SNPs) in the GWAS of psoriasis vulgaris in the Japanese population (after SNP imputation). The black horizontal line represents the genome-wide significance threshold of P = 5.0 × 10–8. The genetic loci that satisfied the genome-wide significance threshold in the combined analysis of the GWAS and the replication study are labeled. MHC, major histocompatibility complex. Journal of Investigative Dermatology 2018 138, 542-548DOI: (10.1016/j.jid.2017.10.001) Copyright © 2017 The Authors Terms and Conditions

Figure 2 Regional associations of the variants in the major histocompatibility complex (MHC) region with psoriasis vulgaris risk. Regional associations of the variants in the MHC region with psoriasis vulgaris risk in the Japanese population estimated based on the HLA imputation analysis. (a) Nominal regional associations. (b–d) Stepwise analysis results conditioned on HLA-C*06:02, HLA-A, and HLA-DQB1. Each diamond represents the –log10(P) of the variants, including the single nucleotide polymorphism, two-digit and four-digit HLA alleles, and amino acid polymorphisms of HLA genes. The dotted horizontal line represents the region-wide significance threshold of P = 6.0 × 10–6. The most strongly associated variant in each panel is labeled. Journal of Investigative Dermatology 2018 138, 542-548DOI: (10.1016/j.jid.2017.10.001) Copyright © 2017 The Authors Terms and Conditions

Figure 3 Psoriasis vulgaris risk amino acid positions of HLA genes in three-dimensional ribbon models. HLA amino acid positions with psoriasis vulgaris risk in HLA-A and HLA-DQ molecules are indicated in three-dimensional ribbon models. The protein structures of HLA-A and HLA-DQ are based on Protein Data Bank entries 1x7q and 1jk8, respectively, and prepared using UCSF Chimera (version 1.7). Residues at amino acid positions with PsV risk in Japanese (this study) and Europeans (Okada et al., 2014a) are highlighted in yellow and blue, respectively. Journal of Investigative Dermatology 2018 138, 542-548DOI: (10.1016/j.jid.2017.10.001) Copyright © 2017 The Authors Terms and Conditions