Promoter analysis of IL-4R gene and its possible associateion of atopic dermatitis

2002 Fiscal Year Final Research Report Summary

• Project/Area Number: 13670897
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Dermatology
• Research Institution: Osaka City University
• Principal Investigator: FUKAI Kazuyoshi OSAKA CITY UNIVERSITY Graduate School of Medicine, DERMATOLOGY, ASSOCIATE PROFESSOR, 大学院・医学研究科, 助教授 (20244642)
• Project Period (FY): 2001 – 2002
• Keywords: ATOPIC DERMATITIS / PSORIASIS / POLYMORPHISM / TRANSCRIPTION FACTOR / PROMOTER

Research Abstract

The gene encoding the interleukin-4 receptor alpha chain (IL4R) has received attention as a candidate gene for atopic diseases, and associations have been reported between functionally significant coding polymorphisms of the gene and atopic diseases (Khurana et al. 1997; Mitsuyasu et al. 1998; Oiso et al 2000). Recently, Ober et al. (2000) suggested that the variations outside the coding region of the IL4R gene influence the susceptibility for atopy and asthma. Therefore, we investigated the 5'-flanking region of the gene and identified four new polymorphisms in the IL4R transcriptional promoter: -327A/C, -326C/A, -186A/G, -184A/G. We carried out association study of these polymorphisms in patients with 111 cases of atopic dermatitis versus 82 normal controls. We also recruited 73 patients with psoriasis vulgaris as the second control group. We further investigated more upstream of the 5'-flanking region of the gene and identified two new polymorphisms: -1914T/C and -3223C/T. Frequency of these polymorphisms were examined in 118 patients with atopic dermatitis, 89 normal controls and 70 patients with psoriasis. We found that these polymorphisms have association with atopic dermatitis. Unexpectedly, we also found that four polymorphisms; -327A/C, -326C/A, -186A/G, -184A/G have association with psoriasis as well.

Research Products

• [Publications] Richards KA et al.: "A novel mutation in KIT gene results in piebaldism with progresive depigmentation"J Am Acad Dermatol. 44. 288-291 (2001)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Akahosi K et al.: "Duplication of 15q11-q14, including the P gene, in a patient with generalized hyperpigmentation"Am J Med Genet. 104. 299-302 (2001)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Karim M et al.: "Apparent genotype-phenotype correlation 'childhood' 'adolescent' 'adult' Chediak-Higashi syndrome"Am J Med Genet. 108. 16-22 (2002)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] HIGASHI N. et al.: "Papular purpuric gloves and socks syndrome with bloody bullae"J Dermatol. 29. 371-375 (2002)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Kato A et al.: "Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population"Br J Dermatol. (in press).
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Kato A et al.: "A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)"
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] 深井和吉: "現代医療 34巻8号"現代医療社. 214 (2002)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Richards KA, Fukai K, Oiso N, Paller AS: "A novel mutation in KIT gene results in piebaldism with progressive depigmentation"J Am Acad Dermatol. 44. 288-292 (2001)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Akahoshi K, Fukai K, Kato A, Kimiya S, Kubota T, Spritz: "Duplication of 15q11.2-ql4, including the P gene, in an patient with generalized hyperpigmentation"Am J Med Genet. 104. 299-302 (2001)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Karim M, Suzuki K, Fukai,K, Oh J, Nagle DL, Moore K, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C, Kreuz F, Levin A, Miyajima H, Russo C, Uyama E, Vierimaa O, Spritz R: "Apparent genotype-phenotype correlation in 'childhood', 'adolescent' and 'adult' Chediak-Higashi syndrome"Am J Med Genet. 108. 16-22 (2002)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Fridman C, Hosomi N, Yarela MC, Souza AH, Fukai F, Koiffman CP: "Angelman syndrome associated with OCA2 due to an intragenic deletion of the P gene"Am J Med Genet. (in press).
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] N Higashi, K Fukai, D Tsuruta, J Nagao, H Ohira, M Ishii: "Papular purpuric gloves and socks syndrome with bloody bullae"J Dermatol. 29. 371-375 (2002)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] A. Kato, K. Fukai, N. Oiso, N. Hosomi, T. Murakami, M. Ishii: "Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population"Br J Dermatol. (in press).
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Atsushi Kato, Kazuyoshi Fukai, Naoki Oiso, Naoko Hosomi, Shinji Saitoh, Takahito Wada, Hiroshi Shimizu, Masamitsu Ishii: "A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)"J Dermatol Sci. (in press).
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] N Oiso, MD, K Fukai, MD, N Hosomi, MD and M Ishii, MD: "Guttate morphoea with Christmas-tree distribution in a patient with human T-cell lymphoma/lymphotropic virus type-1 (HTLV-1) infection"Clin Exp Dermatol. (in press).
  • Description: 「研究成果報告書概要(欧文)」より