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• W2070481847 abstract "caspase recruitment domain family, member 14 generalized pustular psoriasis psoriasis vulgaris TO THE EDITOR Generalized pustular psoriasis (GPP) often presents in patients with existing or prior psoriasis vulgaris (PV), although cases of GPP have been known to arise without a history of PV. We recently reported that the majority of the cases of GPP without a history of PV (“GPP alone”) are caused by homozygous or compound heterozygous mutations of IL36RN (Sugiura et al., 2013Sugiura K. Takemoto A. Yamaguchi M. et al.The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor Antagonist.J Invest Dermatol. 2013; 133: 2514-2521Abstract Full Text Full Text PDF PubMed Scopus (225) Google Scholar). In contrast, only a few exceptional cases of GPP that were preceded or accompanied by PV (“GPP with PV”) were found to have IL36RN mutations. Thus, GPP with PV is genetically different from GPP alone. CARD14 encodes caspase recruitment domain family member 14 (CARD14), which is an activator of nuclear factor of κ-light-chain-enhancer of activated B cells within the epidermis.Jordan et al., 2012Jordan C.T. Cao L. Roberson E.D. et al.Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.Am J Hum Genet. 2012; 90: 796-808Abstract Full Text Full Text PDF PubMed Scopus (267) Google Scholar,Jordan et al., 2012Jordan C.T. Cao L. Roberson E.D. et al.PSORS2 is due to mutations in CARD14.Am J Hum Genet. 2012; 90: 784-795Abstract Full Text Full Text PDF PubMed Scopus (302) Google Scholar) identified rare gain-of-function variants and mutations in CARD14, including p.Gly117Ser, in two large multiplex families affected by Mendelian forms of psoriasis and psoriatic arthritis (Figure 1). Autosomal dominant pityriasis rubra pilaris, which is phenotypically related to psoriasis, was also reported to be caused by mutations in CARD14 (Fuchs-Telem et al., 2012Fuchs-Telem D. Sarig O. van Steensel M.A. et al.Familial pityriasis rubra pilaris is caused by mutations in CARD14.Am J Hum Genet. 2012; 91: 163-170Abstract Full Text Full Text PDF PubMed Scopus (178) Google Scholar), including p.Glu138del and p.Leu156Pro. Moreover, CARD14 p.Arg820Trp (rs11652075) was found to be a PV-susceptible variant in a large psoriasis cohort (Tsoi et al., 2012Tsoi L.C. Spain S.L. Knight J. et al.Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.Nat Genet. 2012; 44: 1341-1348Crossref PubMed Scopus (706) Google Scholar; Jordan et al., 2012Jordan C.T. Cao L. Roberson E.D. et al.Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.Am J Hum Genet. 2012; 90: 796-808Abstract Full Text Full Text PDF PubMed Scopus (267) Google Scholar). Therefore, CARD14 variants and mutations are closely related to various types of psoriasis and psoriasis-related diseases. Jordan et al., 2012Jordan C.T. Cao L. Roberson E.D. et al.PSORS2 is due to mutations in CARD14.Am J Hum Genet. 2012; 90: 784-795Abstract Full Text Full Text PDF PubMed Scopus (302) Google Scholar) identified the rare de novo CARD14 gain-of-function variant p.Glu138Ala in a child with severe early-onset GPP. They found three other rare CARD14 gain-of-function variants in large PV cohorts including p.Asp176His. There was no association of the p.Asp176His variant with PV because the rare variant was found not only in the large PV cohorts but also in the large control cohorts. The present study aimed to investigate the presence of CARD14 variants in GPP with PV. We analyzed the entire coding regions of CARD14 in 19 cases of GPP with PV and in 11 cases of GPP alone. Then, we analyzed exon 4 of CARD14 in the 100 cases of PV and the 100 healthy controls that we had previously studied (Sugiura et al., 2013Sugiura K. Takemoto A. Yamaguchi M. et al.The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor Antagonist.J Invest Dermatol. 2013; 133: 2514-2521Abstract Full Text Full Text PDF PubMed Scopus (225) Google Scholar). All cases and controls were Japanese. It was previously reported that 9 out of 11 cases of GPP alone had homozygous or compound heterozygous IL36RN mutations (Sugiura et al., 2013Sugiura K. Takemoto A. Yamaguchi M. et al.The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor Antagonist.J Invest Dermatol. 2013; 133: 2514-2521Abstract Full Text Full Text PDF PubMed Scopus (225) Google Scholar). The clinical characteristics of the 30 patients with GPP and the 100 patients with PV are indicated in Supplementary Table S1 and S2 online, respectively. Following approval from the Ethics Committee of Nagoya University, written informed consent was obtained from all participants in compliance with the Declaration of Helsinki guidelines. Download .pdf (6.02 MB) Help with pdf files Supplementary Information The sequence primers for analysis of CARD14 are indicated in Supplementary Table S3 online. Direct-sequencing analysis of the entire coding regions of CARD14 with exon–intron boundaries revealed 4 of the 19 cases of GPP with PV to be heterozygous for c.526G>C (p.Asp176His) (Figure 2). We found no other mutations or variants. However, none of the 11 cases of GPP alone had any variants. Among the cases with homozygous or compound heterozygous IL36RN mutations, no cases had the variant c.526G>C (p.Asp176His). Direct-sequencing analysis of exon 4, which encodes p.Asp176, revealed 4 out of the 100 cases of simple PV and 3 out of the 100 healthy controls to have the heterozygous variant c.526G>C (p.Asp176His). The carrier rate of the p.Asp176His variant in GPP with PV (4/19: 21.1%) was significantly higher compared with that in the controls (3/100: 3%; Fisher exact test: P<0.0123; odds ratio of 8.62; confidence intervals between 1.75 and 42.4; power calculation of 0.609). However, there was no significant difference in the carrier rate of p.Asp176His between GPP alone (0/11: 0%) and the healthy controls. Jordan et al., 2012Jordan C.T. Cao L. Roberson E.D. et al.Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.Am J Hum Genet. 2012; 90: 796-808Abstract Full Text Full Text PDF PubMed Scopus (267) Google Scholar) reported that p.Asp176His was found in 2 out of 1609 controls in European populations. The carrier rate of p.Asp176His in the Japanese individuals in the present study is significantly higher compared with that in the European cohort (P<0.01; Jordan et al., 2012Jordan C.T. Cao L. Roberson E.D. et al.Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.Am J Hum Genet. 2012; 90: 796-808Abstract Full Text Full Text PDF PubMed Scopus (267) Google Scholar). The Ensembl genome browser indicates that 3 out of 178 alleles in the Japanese population have c.526G>C. This frequency is very close to the 3 out of 200 alleles of the present study. We conclude that the CARD14 variant p.Asp176His is an important predisposing factor for GPP with PV in the Japanese population. Because of the low number of patients, the current study is underpowered to detect variants at low frequencies, such as pGlu138Ala, in this population (Jordan et al., 2012Jordan C.T. Cao L. Roberson E.D. et al.Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.Am J Hum Genet. 2012; 90: 796-808Abstract Full Text Full Text PDF PubMed Scopus (267) Google Scholar). pGlu138Ala was reported in an early-onset GPP patient, although the mutant was not found in any of the 30 GPP patients in the present study. HLA-Cw*602 is the main genetic predisposing factor for psoriasis. We analyzed HLA-C in the 30 patients with GPP and the 100 patients with PV using Micro SSPTM HLA typing trays (One Lambda, Canoga Park, CA; Supplementary Tables S1 and S2 online). No interaction was found between the CARD14 variant c.526G>C and HLA-Cw*602. The haplotype block structure flanking the CARD14 gene was constructed using genotype data from the HapMap database. We analyzed the haplotypes of 200 alleles of the controls. The haplotype block was represented by eight haplotypes (Supplementary Figure S1 online). In all, 11 individuals carrying the CARD14 variant c.526G>C (p.Asp176His), the chromosome containing c.526G>C, had an identical haplotype, haplotype III (GGACCTCCA), which is seen in 11.5% of the Japanese population. Thus, the variant c.526G>C (p.Asp176His) in the present Japanese individuals appears to represent founder effects of the prevalent variant CARD14 alleles among individuals in this island nation. In this study, we found that CARD14 p.Asp176His is a prevalent founder variant in the Japanese population and is a predisposing factor for GPP with PV. In contrast, CARD14 p.Asp176His is not associated with PV in the Japanese population. These findings suggest that GPP with PV has a genetic background different from that of simple PV. In addition, no patient with GPP alone has had CARD14 p.Asp176His, although the majority have had IL36RN mutations, as previously reported (Sugiura et al., 2013Sugiura K. Takemoto A. Yamaguchi M. et al.The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor Antagonist.J Invest Dermatol. 2013; 133: 2514-2521Abstract Full Text Full Text PDF PubMed Scopus (225) Google Scholar). In this context, the present results further support the idea that GPP with PV is genetically different from GPP alone. We thank Haruka Ozeki, Yuka Terashita, and Akemi Tanaka for their technical help in analyzing variants of CARD14 and HLA-C. This study was supported in part by Grant-in-Aid for Scientific Research (C) 23591617 (to KS) and Grant-in-Aid for Scientific Research (A) 23249058 (to MA), both from the Ministry of Education, Culture, Sports, Science and Technology of Japan, and by a grant for Research on Measures for Intractable Diseases (to MM) from the Ministry of Health, Labor and Welfare, Japan. Supplementary material is linked to the online version of the paper at http://www.nature.com/jid" @default.
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• W2070481847 title "CARD14 c.526G>C (p.Asp176His) Is a Significant Risk Factor for Generalized Pustular Psoriasis with Psoriasis Vulgaris in the Japanese Cohort" @default.
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