Variants at HLA-A, HLA-C, and HLA-DQB1 Confer Risk of Psoriasis Vulgaris in Japanese

Journal of Investigative Dermatology

Volumn 138, Issue 3, 2018, Pages 542-548

  Hirata, Jun ^a,b,c   Hirota, Tomomitsu ^d   Ozeki, Takeshi ^d   Kanai, Masahiro ^a,d   Sudo, Takeaki ^c   Tanaka, Toshihiro ^c   Hizawa, Nobuyuki ^e   Nakagawa, Hidemi ^f   Sato, Shinichi ^g   Mushiroda, Taisei ^d   Saeki, Hidehisa ^h   Tamari, Mayumi ^d,f   Okada, Yukinori ^a,d,i  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b TEIJIN PHARMA LIMITED   (Japan)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^d RIKEN Center for Integrative Medical Sciences   (Japan)

^e UNIVERSITY OF TSUKUBA   (Japan)

^f JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g UNIVERSITY OF TOKYO   (Japan)

^h NIPPON MEDICAL SCHOOL   (Japan)

ⁱ OSAKA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYSTEINE; HLA A ANTIGEN; HLA A2 ANTIGEN; HLA C ANTIGEN; HLA C6 ANTIGEN; HLA DPA1 ANTIGEN; HLA DPB1 ANTIGEN; HLA DQA1 ANTIGEN; HLA DQB1 ANTIGEN; HLA DRB1 ANTIGEN; UNCLASSIFIED DRUG; HLA DQ ANTIGEN; HLA-DQB1 ANTIGEN;

ADULT; ARTICLE; CHROMOSOME 6; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC RISK; GENETIC VARIABILITY; GENOME-WIDE ASSOCIATION STUDY; HUMAN; JAPANESE (PEOPLE); MAJOR CLINICAL STUDY; MAJOR HISTOCOMPATIBILITY COMPLEX; MALE; MIDDLE AGED; PRIORITY JOURNAL; PSORIASIS VULGARIS; REPLICATION STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; AGED; GENETIC PREDISPOSITION; GENETICS; PSORIASIS; RISK;

ADULT; AGED; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HLA-A ANTIGENS; HLA-C ANTIGENS; HLA-DQ BETA-CHAINS; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PSORIASIS; RISK;

EID: 85042347948     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1016/j.jid.2017.10.001     Document Type: Article

References (45)

1. Bowes, J., Ashcroft, J., Dand, N., Jalali-Najafabadi, F., Bellou, E., Ho, P., et al. Cross-phenotype association mapping of the MHC identifies genetic variants that differentiate psoriatic arthritis from psoriasis. Ann Rheum Dis 76 (2017), 1774–1779.
2. Chandra, A., Lahiri, A., Senapati, S., Basu, B., Ghosh, S., Mukhopadhyay, I., et al. Increased risk of psoriasis due to combined effect of HLA-Cw6 and LCE3 risk alleles in Indian population. Sci Rep, 6, 2016, 24059.
3. Chandran, V., Raychaudhuri, S.P., Geoepidemiology and environmental factors of psoriasis and psoriatic arthritis. J Autoimmun 34 (2010), J314–J321.
4. Clop, A., Bertoni, A., Spain, S.L., Simpson, M.A., Pullabhatla, V., Tonda, R., et al. An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element. PLoS One, 8, 2013, e71690.
5. Hayashi, M., Nakayama, T., Hirota, T., Saeki, H., Nobeyama, Y., Ito, T., et al. Novel IL36RN gene mutation revealed by analysis of 8 Japanese patients with generalized pustular psoriasis. J Dermatol Sci 76 (2014), 267–269.
6. Hu, X., Deutsch, A.J., Lenz, T.L., Onengut-Gumuscu, S., Han, B., Chen, W.M., et al. Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk. Nat Genet 47 (2015), 898–905.
7. Jia, X., Han, B., Onengut-Gumuscu, S., Chen, W.M., Concannon, P.J., Rich, S.S., et al. Imputing amino acid polymorphisms in human leukocyte antigens. PLoS One, 8, 2013, e64683.
8. Jordan, C.T., Cao, L., Roberson, E.D., Pierson, K.C., Yang, C.F., Joyce, C.E., et al. PSORS2 is due to mutations in CARD14. Am J Hum Genet 90 (2012), 784–795.
9. Kanai, M., Tanaka, T., Okada, Y., Empirical estimation of genome-wide significance thresholds based on the 1000 Genomes Project data set. J Hum Genet 61 (2016), 861–866.
10. Karnes, J.H., Shaffer, C.M., Bastarache, L., Gaudieri, S., Glazer, A.M., Steiner, H.E., et al. Comparison of HLA allelic imputation programs. PLoS One, 12, 2017, e0172444.
11. Kubota, K., Kamijima, Y., Sato, T., Ooba, N., Koide, D., Iizuka, H., et al. Epidemiology of psoriasis and palmoplantar pustulosis: a nationwide study using the Japanese national claims database. BMJ Open, 5, 2015, e006450.
12. Lenz, T.L., Deutsch, A.J., Han, B., Hu, X., Okada, Y., Eyre, S., et al. Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases. Nat Genet 47 (2015), 1085–1090.
13. Mabuchi, T., Ota, T., Manabe, Y., Ikoma, N., Ozawa, A., Terui, T., et al. HLA-C*12:02 is a susceptibility factor in late-onset type of psoriasis in Japanese. J Dermatol 41 (2014), 697–704.
14. Muto, M., Nagai, K., Mogami, S., Nakano, J., Sasazuki, T., Asagami, C., HLA antigens in Japanese patients with psoriatic arthritis. Tissue Antigens 45 (1995), 362–364.
15. Muto, M., Date, Y., Ichimiya, M., Moriwaki, Y., Mori, K., Kamikawaji, N., et al. Significance of antibodies to streptococcal M protein in psoriatic arthritis and their association with HLA-A*0207. Tissue Antigens 48 (1996), 645–650.
16. Nair, R.P., Stuart, P.E., Nistor, I., Hiremagalore, R., Chia, N.V., Jenisch, S., et al. Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene. Am J Hum Genet 78 (2006), 827–851.
17. Naito, R., Imafuku, S., Distinguishing features of body mass index and psoriasis in men and women in Japan: a hospital-based case-control study. J Dermatol 43 (2016), 1406–1411.
18. Nakagawa, H., Asahina, A., Akazaki, S., Tokunaga, K., Matsuki, K., Ishibashi, Y., et al. Association of Cw11 in Japanese patients with psoriasis vulgaris. Tissue Antigens 36 (1990), 241–242.
19. Nakagawa, H., Akazaki, S., Asahina, A., Tokunaga, K., Matsuki, K., Kuwata, S., et al. Study of HLA class I, class II and complement genes (C2, C4A, C4B and BF) in Japanese psoriatics and analysis of a newly-found high-risk haplotype by pulsed field gel electrophoresis. Arch Dermatol Res 283 (1991), 281–284.
20. Nestle, F.O., Kaplan, D.H., Barker, J., Psoriasis. N Engl J Med 361 (2009), 496–509.
21. Okada, Y., Han, B., Tsoi, L.C., Stuart, P.E., Ellinghaus, E., Tejasvi, T., et al. Fine mapping major histocompatibility complex associations in psoriasis and its clinical subtypes. Am J Hum Genet 95 (2014), 162–172.
22. Okada, Y., Kim, K., Han, B., Pillai, N.E., Ong, R.T., Saw, W.Y., et al. Risk for ACPA-positive rheumatoid arthritis is driven by shared HLA amino acid polymorphisms in Asian and European populations. Hum Mol Genet 23 (2014), 6916–6926.
23. Okada, Y., Wu, D., Trynka, G., Raj, T., Terao, C., Ikari, K., et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature 506 (2014), 376–381.
24. Okada, Y., Momozawa, Y., Ashikawa, K., Kanai, M., Matsuda, K., Kamatani, Y., et al. Construction of a population-specific HLA imputation reference panel and its application to Graves’ disease risk in Japanese. Nat Genet 47 (2015), 798–802.
25. Okada, Y., Muramatsu, T., Suita, N., Kanai, M., Kawakami, E., Iotchkova, V., et al. Significant impact of miRNA-target gene networks on genetics of human complex traits. Sci Rep, 6, 2016, 22223.
26. Okada, Y., Suzuki, A., Ikari, K., Terao, C., Kochi, Y., Ohmura, K., et al. Contribution of a non-classical HLA gene, HLA-DOA, to the risk of rheumatoid arthritis. Am J Hum Genet 99 (2016), 366–374.
27. Olarerin-George, A.O., Anton, L., Hwang, Y.C., Elovitz, M.A., Hogenesch, J.B., A functional genomics screen for microRNA regulators of NF-kappaB signaling. BMC Biol, 11, 2013, 19.
28. Parisi, R., Symmons, D.P., Griffiths, C.E., Ashcroft, D.M., Global epidemiology of psoriasis: a systematic review of incidence and prevalence. J Invest Dermatol 133 (2013), 377–385.
29. Raychaudhuri, S., Sandor, C., Stahl, E.A., Freudenberg, J., Lee, H.S., Jia, X., et al. Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis. Nat Genet 44 (2012), 291–296.
30. Robinson, J., Soormally, A.R., Hayhurst, J.D., Marsh, S.G., The IPD-IMGT/HLA database—new developments in reporting HLA variation. Hum Immunol 77 (2016), 233–237.
31. Saeki, H., Kuwata, S., Nakagawa, H., Asahina, A., Tamaki, K., Shibata, Y., et al. Analysis of HLA class II and TAP alleles in Japanese patients with psoriasis vulgaris. Hum Immunol 59 (1998), 503–511.
32. Sheng, Y., Jin, X., Xu, J., Gao, J., Du, X., Duan, D., et al. Sequencing-based approach identified three new susceptibility loci for psoriasis. Nat Commun, 5, 2014, 4331.
33. Shiraishi, K., Okada, Y., Takahashi, A., Kamatani, Y., Momozawa, Y., Ashikawa, K., et al. Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma. Nat Commun, 7, 2016, 12451.
34. Takahashi, H., Takahashi, I., Tsuji, H., Ibe, M., Kinouchi, M., Hashimoto, Y., et al. Analysis of psoriatic patients registered in Asahikawa Medical College Hospital from 1983 to 2007. J Dermatol 36 (2009), 632–637.
35. Tamari, M., Saeki, H., Hayashi, M., Umezawa, Y., Ito, T., Fukuchi, O., et al. An association study of 36 psoriasis susceptibility loci for psoriasis vulgaris and atopic dermatitis in a Japanese population. J Dermatol Sci 76 (2014), 156–157.
36. Tang, H., Jin, X., Li, Y., Jiang, H., Tang, X., Yang, X., et al. A large-scale screen for coding variants predisposing to psoriasis. Nat Genet 46 (2014), 45–50.
37. Tiilikainen, A., Lassus, A., Karvonen, J., Vartiainen, P., Julin, M., Psoriasis and HLA-Cw6. Br J Dermatol 102 (1980), 179–184.
38. Tsoi, L.C., Spain, S.L., Ellinghaus, E., Stuart, P.E., Capon, F., Knight, J., et al. Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci. Nat Commun, 6, 2015, 7001.
39. Tsoi, L.C., Stuart, P.E., Tian, C., Gudjonsson, J.E., Das, S., Zawistowski, M., et al. Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants. Nat Commun, 8, 2017, 15382.
40. van den Bogaard, E.H., Tijssen, H.J., Rodijk-Olthuis, D., van Houwelingen, K.P., Coenen, M.J., Marget, M., et al. Cell surface expression of HLA-Cw6 by human epidermal keratinocytes: positive regulation by cytokines, lack of correlation to a variant upstream of HLA-C. J Invest Dermatol 136 (2016), 1903–1906.
41. Vince, N., Li, H., Ramsuran, V., Naranbhai, V., Duh, F.M., Fairfax, B.P., et al. HLA-C level is regulated by a polymorphic Oct1 binding site in the HLA-C promoter region. Am J Hum Genet 99 (2016), 1353–1358.
42. Voorter, C.E., van den BergLoonen, E.M., Sequence-based typing of the complete coding sequence of DQA1 and phenotype frequencies in the Dutch Caucasian population. Hum Immunol 67 (2006), 756–763.
43. Yin, X., Low, H.Q., Wang, L., Li, Y., Ellinghaus, E., Han, J., et al. Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility. Nat Commun, 6, 2015, 6916.
44. Zhou, F., Cao, H., Zuo, X., Zhang, T., Zhang, X., Liu, X., et al. Deep sequencing of the MHC region in the Chinese population contributes to studies of complex disease. Nat Genet 48 (2016), 740–746.
45. Zuo, X., Sun, L., Yin, X., Gao, J., Sheng, Y., Xu, J., et al. Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis. Nat Commun, 6, 2015, 6793.