Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese.

Takahiko Horiuchi, Hiroshi Tsukamoto, Hiroki Mitoma, Hiroshi Miyagawa, Yasuhiro Tamimoto, Seiji Yoshizawa, Mine Harada, Kenshi Hayashi, Chinami Hashimura, Motohiro Oribe, Seiichi Okamura

研究成果: ジャーナルへの寄稿記事

20 引用 (Scopus)

抄録

Molecular defects of TNFRSF1A was investigated in members of a family presenting with typical phenotypes of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) and in patients with the autoimmune disorders, systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Genomic DNA from the members of a family with typical TRAPS, as well as from 100 patients with SLE, 100 patients with RA and 100 healthy individuals, was studied for mutations in exons 2, 3 and 4 of the TNFRSF1A gene. All individuals were Japanese. Three novel missense mutations were identified in the TNFRSF1A. The C70G mutation was identified in family members with typical TRAPS, which was the second case in eastern Asian population. In addition, the T61I and R104Q mutations were each identified in 2 of the 100 SLE patients. The T61I mutation was identified in one of the 100 healthy individuals. No mutations were identified in the 100 RA patients. Functional analysis revealed that PMA-induced shedding of TNFRSF1A from PBMCs was impaired in a patient carrying T61I. A larger scale of study will clarify whether these two mutations, T61I and R104Q, are associated with chronic inflammatory disorders, such as SLE, or not.

元の言語英語
ページ(範囲)813-818
ページ数6
ジャーナルInternational journal of molecular medicine
14
発行部数5
出版物ステータス出版済み - 1 1 2004

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Systemic Lupus Erythematosus
Mutation
Rheumatoid Arthritis
Missense Mutation
Autosomal Dominant Familial Periodic Fever
Exons
Phenotype
DNA
Population
Genes

All Science Journal Classification (ASJC) codes

  • Genetics

これを引用

Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese. / Horiuchi, Takahiko; Tsukamoto, Hiroshi; Mitoma, Hiroki; Miyagawa, Hiroshi; Tamimoto, Yasuhiro; Yoshizawa, Seiji; Harada, Mine; Hayashi, Kenshi; Hashimura, Chinami; Oribe, Motohiro; Okamura, Seiichi.

:: International journal of molecular medicine, 巻 14, 番号 5, 01.01.2004, p. 813-818.

研究成果: ジャーナルへの寄稿記事

Horiuchi, T, Tsukamoto, H, Mitoma, H, Miyagawa, H, Tamimoto, Y, Yoshizawa, S, Harada, M, Hayashi, K, Hashimura, C, Oribe, M & Okamura, S 2004, 'Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese.', International journal of molecular medicine, 巻. 14, 番号 5, pp. 813-818.
Horiuchi, Takahiko ; Tsukamoto, Hiroshi ; Mitoma, Hiroki ; Miyagawa, Hiroshi ; Tamimoto, Yasuhiro ; Yoshizawa, Seiji ; Harada, Mine ; Hayashi, Kenshi ; Hashimura, Chinami ; Oribe, Motohiro ; Okamura, Seiichi. / Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese. :: International journal of molecular medicine. 2004 ; 巻 14, 番号 5. pp. 813-818.
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abstract = "Molecular defects of TNFRSF1A was investigated in members of a family presenting with typical phenotypes of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) and in patients with the autoimmune disorders, systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Genomic DNA from the members of a family with typical TRAPS, as well as from 100 patients with SLE, 100 patients with RA and 100 healthy individuals, was studied for mutations in exons 2, 3 and 4 of the TNFRSF1A gene. All individuals were Japanese. Three novel missense mutations were identified in the TNFRSF1A. The C70G mutation was identified in family members with typical TRAPS, which was the second case in eastern Asian population. In addition, the T61I and R104Q mutations were each identified in 2 of the 100 SLE patients. The T61I mutation was identified in one of the 100 healthy individuals. No mutations were identified in the 100 RA patients. Functional analysis revealed that PMA-induced shedding of TNFRSF1A from PBMCs was impaired in a patient carrying T61I. A larger scale of study will clarify whether these two mutations, T61I and R104Q, are associated with chronic inflammatory disorders, such as SLE, or not.",
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AU - Harada, Mine

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