Familial Occurrence of Sarcoidosis in Japan and Analysis of Genetic Influence
We studied 90 familial occurrences of Sarcoidosis reported in Japan and investigated the hereditary influence of sarcoidosis. There were 97 relationships in 90 families. They were consisted of 60 sibling pairs (22 sister-brother, 24 sister-sister and 14 brother-brother relations, including 3 monozyg...
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| Published in | NIHON SARUKOIDOSHISU / NIKUGESHUSHIKKAN (The Japanese journal of sarcoidosis and other granulomatous disorders ) Vol. 20; no. 1; pp. 21 - 26 |
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| Main Authors | , , , , , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
Japan Society of Sarcoidosis and other Granulomatous Disorders
2000
日本サルコイドーシス/肉芽腫性疾患学会 |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1345-0565 1884-6122 |
| DOI | 10.14830/jssog1999.20.21 |
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| Abstract | We studied 90 familial occurrences of Sarcoidosis reported in Japan and investigated the hereditary influence of sarcoidosis. There were 97 relationships in 90 families. They were consisted of 60 sibling pairs (22 sister-brother, 24 sister-sister and 14 brother-brother relations, including 3 monozygotic twins), 26 parent-offspring, 5 aunt-niece/nephew, 4 cousin pairs. Only 2 index cases had an affected spouse. The prevalence rate of familial sarcoidosis (90 families) in Japan appears to be significantly greater than the expected value in the general population estimated using binomial distribution. Furthermore we assessed the genetic mode of sarcoidosis in sarcoidosis patients from Okayama University Hospital. Among 133 patients with sarcoidosis for whom pedigrees could be constructed, 7 patients had a pathological or clinical diagnosis of sarcoidosis in related family members. Mendelian autosomal mode of inheritance were reasonably excluded by inspection of pedigree patterns and by poor fit of corrected ratios within sibships to the expected ratio for all sibships. Hereditability estimated by Falconer's method was 68% in all first-relatives and 69% in sibships, respectively. These data suggest that the observed familial distributions conform to multigenic traits. A larger sample size for epidemiological study and further investigations of genes concerned with sarcoidosis would permit additional multigenic properties. |
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| AbstractList | We studied 90 familial occurrences of Sarcoidosis reported in Japan and investigated the hereditary influence of sarcoidosis. There were 97 relationships in 90 families. They were consisted of 60 sibling pairs (22 sister-brother, 24 sister-sister and 14 brother-brother relations, including 3 monozygotic twins), 26 parent-offspring, 5 aunt-niece/nephew, 4 cousin pairs. Only 2 index cases had an affected spouse. The prevalence rate of familial sarcoidosis (90 families) in Japan appears to be significantly greater than the expected value in the general population estimated using binomial distribution. Furthermore we assessed the genetic mode of sarcoidosis in sarcoidosis patients from Okayama University Hospital. Among 133 patients with sarcoidosis for whom pedigrees could be constructed, 7 patients had a pathological or clinical diagnosis of sarcoidosis in related family members. Mendelian autosomal mode of inheritance were reasonably excluded by inspection of pedigree patterns and by poor fit of corrected ratios within sibships to the expected ratio for all sibships. Hereditability estimated by Falconer's method was 68% in all first-relatives and 69% in sibships, respectively. These data suggest that the observed familial distributions conform to multigenic traits. A larger sample size for epidemiological study and further investigations of genes concerned with sarcoidosis would permit additional multigenic properties. We studied 90 familial occurrences of Sarcoidosis reported in Japan and investigated the hereditary influence of sarcoidosis. There were 97 relationships in 90 families. They were consisted of 60 sibling pairs (22 sister-brother, 24 sister-sister and 14 brother-brother relations, including 3 monozygotic twins), 26 parent-offspring, 5 aunt-niece/nephew, 4 cousin pairs. Only 2 index cases had an affected spouse. The prevalence rate of familial sarcoidosis (90 families) in Japan appears to be significantly greater than the expected value in the general population estimated using binomial distribution. Furthermore we assessed the genetic mode of sarcoidosis in sarcoidosis patients from Okayama University Hospital. Among 133 patients with sarcoidosis for whom pedigrees could be constructed, 7 patients had a pathological or clinical diagnosis of sarcoidosis in related family members. Mendelian autosomal mode of inheritance were reasonably excluded by inspection of pedigree patterns and by poor fit of corrected ratios within sibships to the expected ratio for all sibships. Hereditability estimated by Falconer's method was 68% in all first-relatives and 69% in sibships, respectively. These data suggest that the observed familial distributions conform to multigenic traits.A larger sample size for epidemiological study and further investigations of genes concerned with sarcoidosis would permit additional multigenic properties. 日本において文献的に報告されたサルコイドーシス (サ症) 家族発生例について解析を行った. 90家系, 186症例からなる97組の家族発症例が集積できた. その内訳は同胞発生が60組で, 兄弟14組, 兄妹12組, 姉妹24組, 姉弟10組であり, 3組の一卵性双生児が含まれていた. 親子発生は母息子10組, 母娘14組, 父娘1組, 父息子1組の計26組であった. 更に叔母と甥又は姪5組, いとこ4組が認められた. また夫婦は2組であった. 発見動機は発端者, 2次患者とも集検発見と眼症状発見によるものが3分の2を占めていた. 発症年齢は発端者の平均が34.4歳, 二次患者では33.8歳と両者に有意の差は認められなかった. 発見間隔は同時発生が8組あり, 最長は23年で, 平均5.0年であった. 親子の組合せは有意に少なく, 同胞間の発生は有意に多かった. また男女比は全体及び2次患者で有意に女性が多かった. 二項分布による検討では家族集積性が認められ, 遺伝的素因の関与が考えられ, 多因子遺伝であることが推察された.サ症発症の原因を追究する場合, 環境要因としての外来因子の解明ばかりでなく, 遺伝要因としての多因子遺伝を構成する疾患遺伝子, 疾患関連遺伝子の解明が必要であると考えられた. |
| Author | Kamao, Takayuki Harada, Mine Nakata, Yasunari Tada, Shinya Kataoka, Mikio Hiraga, Yomei Hiramatsu, Jun-ichi Tachibana, Teruo Tanimoto, Yasushi Kimura, Goro |
| Author_FL | 中田 安成 片岡 幹男 鎌尾 高行 多田 慎也 原田 実根 平賀 洋明 立花 暉夫 平松 順一 木村 五郎 谷本 安 |
| Author_FL_xml | – sequence: 1 fullname: 片岡 幹男 – sequence: 2 fullname: 中田 安成 – sequence: 3 fullname: 平松 順一 – sequence: 4 fullname: 鎌尾 高行 – sequence: 5 fullname: 谷本 安 – sequence: 6 fullname: 木村 五郎 – sequence: 7 fullname: 多田 慎也 – sequence: 8 fullname: 原田 実根 – sequence: 9 fullname: 立花 暉夫 – sequence: 10 fullname: 平賀 洋明 |
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| References | 1) Martenstein H: Knochenveranderungen bei lupus pernio. Zentablatt fur Haut und Geshlechtskrankheiten sowie deren Grenzgebiete 1923; 7: 308-314. 22) Harrington DW, Major M, Rybicki B et al: Familial sarcoidosis: Analysis of 91 families. Sarcoidosis 1994; 11: 240-243. 23) 平賀洋明: 日本におけるサルコイドーシスの疫学. 医学のあゆみ 1996; 178: 4-8. 3) 伊藤慶夫, 荻間 勇, 木下康民: サルコイドーシスの同胞発生例及び本邦報告例について. 日本胸部臨床 1971; 30: 590-595. 6) 伊藤慶夫: サルコイドーシスの家族内発生. 臨床医 1981; 7: 83-85. 25) Headings VE, Weston D, Young RC et al: Familial sarcoidosis with multiple occurrences in eleven families: A possible mechanism of inheritance. Ann N.Y. Acad Sci 1976; 278: 377-385. 17) Hosoda Y, Iwai K, daka M et al: Recent epidemiological features of sarcoidosis. In: Jones Williams W, Davis BH, eds. Proc Eighth International Confernce on Sarcoidosis and other Granulomatous Disorders.: Alfa Omega Publishing, Cardif, 1980; 519-521. 2) 山田酉之, 佐々木徹郎, 桑島治三郎 他: 眼サルコイドーシス患者に対するKveim反応について. 臨床眼科 1962; 16: 1119-1125. 16) 山口百子: 日本におけるサルコイドーシスの疫学. 病理と臨床 1995; 13: 762-766. 18) 藤木慶子: 分離比の分析と遺伝様式の関係. 古庄敏行, 清水信義, 北川照男, 武部 啓 編. 臨床遺伝医学, vol V. 診断と治療社, 東京, 1993; 49-56. 26) 古庄敏行, 大木秀一: 多因子遺伝. 古庄敏行, 清水信義, 北川照男, 武部 啓 編. 臨床遺伝医学, vol V. 診断と治療社, 東京, 1993; 66-103. 15) Ishihara M, Ishida T, Inoko H et al: HLA serological and class II genotyping in sarcoidosis patients in Japan. Jpn J Ophthalmol 1996; 40: 86-94. 8) 加藤茂樹, 山下 豊, 千住玲子 他: サルコイドーシスに関する臨床的研究 第2報 サルコイドーシスの兄妹発生例. 長崎医学会雑誌 1987; 62: 23-27. 7) 尾仲彰男, 斎藤茂治, 加茂 隆 他.: サルコイドーシスの家族発生例. 日本サルコイドーシス学会誌 1983; 1: 61-63. 5) 細田 裕, 柳川 洋, 小高 稔 他: サルコイドーシスの家族発生の疫学的検討. 日本胸部臨床 1979; 38: 872-878. 12) Tachibana T, Hiraga Y, Oritsu et al: Clinical study of familial sarcoidosis in Japan. Sarcoidosis 1994; 11 (Supplement): 244-245. 13) Kunikane H, Abe S, Tsuneta Y et al: Role of HLA-DR antigens in Japanese patients with sarcoidosis. Am Rev Respir Dis 1987; 135: 688-691. 11) Tachibana T, Hiraga Y, Kunikane H et al: HLA and familial sarcoidosis in Japan. Sarecoidosis 1992; 9 (Suppl. 1): 83-86. 27) Edwards JH: The simulation of Menderism. Acta. Genet. et Stat. Med. 1960; 10: 63. 9) 平賀洋明, 大道光秀, 横川和夫: サルコイドーシスの家族発生21組について. 厚生省特定疾患びまん性肺疾患調査研究班平成元年度研究報告書 1990; 176-178. 14) Ina Y, Takada K, Yamamoto M et al: HLA and sarcoidosis in the Japanese. Chest 1989; 95: 1257-1261. 19) Falconer DS: The inheritance of liability to certain diseases, estimated from the incidence among relatives. Ann. Hum. Genet. 1965; 29: 51-76. 21) Scadding JG, Chappell AG, Sutherland I: Familial associations in sarcoidosis. Tubercle 1973; 54: 87-98. 4) Ito Y, Ogima I, Kinoshita Y: Familial sarcoidosis in Japan. In: Iwai K, Hosoda Y, eds. Proceeding of the VI International Conference on Sarcoidosis. University of Tokyo Press, Tokyo, 1974; 30-33. 20) Ishige I, Usui Y, Takemura T, Eishi Y: Quantitative PCR of mycobacterial and propionibacterial DNA in lymph nodes of Japanese patients with sarcoidosis. Lancet 1999; 354: 120-3. 10) 立花暉夫, 平賀洋明, 山口悦郎 他: サルコイドーシス家族発生症例の臨床的研究. 厚生省特定疾患びまん性肺疾患調査研究班平成3年度調査報告書 1992; 223-225. 24) James DG, Neville E, Piyasena KHG et al: Possible genetic influences in familial sarcoidosis. Postgrad Med J 1974; 50: 664-670. |
| References_xml | – reference: 22) Harrington DW, Major M, Rybicki B et al: Familial sarcoidosis: Analysis of 91 families. Sarcoidosis 1994; 11: 240-243. – reference: 18) 藤木慶子: 分離比の分析と遺伝様式の関係. 古庄敏行, 清水信義, 北川照男, 武部 啓 編. 臨床遺伝医学, vol V. 診断と治療社, 東京, 1993; 49-56. – reference: 25) Headings VE, Weston D, Young RC et al: Familial sarcoidosis with multiple occurrences in eleven families: A possible mechanism of inheritance. Ann N.Y. Acad Sci 1976; 278: 377-385. – reference: 21) Scadding JG, Chappell AG, Sutherland I: Familial associations in sarcoidosis. Tubercle 1973; 54: 87-98. – reference: 1) Martenstein H: Knochenveranderungen bei lupus pernio. Zentablatt fur Haut und Geshlechtskrankheiten sowie deren Grenzgebiete 1923; 7: 308-314. – reference: 2) 山田酉之, 佐々木徹郎, 桑島治三郎 他: 眼サルコイドーシス患者に対するKveim反応について. 臨床眼科 1962; 16: 1119-1125. – reference: 13) Kunikane H, Abe S, Tsuneta Y et al: Role of HLA-DR antigens in Japanese patients with sarcoidosis. Am Rev Respir Dis 1987; 135: 688-691. – reference: 16) 山口百子: 日本におけるサルコイドーシスの疫学. 病理と臨床 1995; 13: 762-766. – reference: 6) 伊藤慶夫: サルコイドーシスの家族内発生. 臨床医 1981; 7: 83-85. – reference: 11) Tachibana T, Hiraga Y, Kunikane H et al: HLA and familial sarcoidosis in Japan. Sarecoidosis 1992; 9 (Suppl. 1): 83-86. – reference: 27) Edwards JH: The simulation of Menderism. Acta. Genet. et Stat. Med. 1960; 10: 63. – reference: 20) Ishige I, Usui Y, Takemura T, Eishi Y: Quantitative PCR of mycobacterial and propionibacterial DNA in lymph nodes of Japanese patients with sarcoidosis. Lancet 1999; 354: 120-3. – reference: 23) 平賀洋明: 日本におけるサルコイドーシスの疫学. 医学のあゆみ 1996; 178: 4-8. – reference: 10) 立花暉夫, 平賀洋明, 山口悦郎 他: サルコイドーシス家族発生症例の臨床的研究. 厚生省特定疾患びまん性肺疾患調査研究班平成3年度調査報告書 1992; 223-225. – reference: 9) 平賀洋明, 大道光秀, 横川和夫: サルコイドーシスの家族発生21組について. 厚生省特定疾患びまん性肺疾患調査研究班平成元年度研究報告書 1990; 176-178. – reference: 4) Ito Y, Ogima I, Kinoshita Y: Familial sarcoidosis in Japan. In: Iwai K, Hosoda Y, eds. Proceeding of the VI International Conference on Sarcoidosis. University of Tokyo Press, Tokyo, 1974; 30-33. – reference: 7) 尾仲彰男, 斎藤茂治, 加茂 隆 他.: サルコイドーシスの家族発生例. 日本サルコイドーシス学会誌 1983; 1: 61-63. – reference: 8) 加藤茂樹, 山下 豊, 千住玲子 他: サルコイドーシスに関する臨床的研究 第2報 サルコイドーシスの兄妹発生例. 長崎医学会雑誌 1987; 62: 23-27. – reference: 26) 古庄敏行, 大木秀一: 多因子遺伝. 古庄敏行, 清水信義, 北川照男, 武部 啓 編. 臨床遺伝医学, vol V. 診断と治療社, 東京, 1993; 66-103. – reference: 3) 伊藤慶夫, 荻間 勇, 木下康民: サルコイドーシスの同胞発生例及び本邦報告例について. 日本胸部臨床 1971; 30: 590-595. – reference: 12) Tachibana T, Hiraga Y, Oritsu et al: Clinical study of familial sarcoidosis in Japan. Sarcoidosis 1994; 11 (Supplement): 244-245. – reference: 24) James DG, Neville E, Piyasena KHG et al: Possible genetic influences in familial sarcoidosis. Postgrad Med J 1974; 50: 664-670. – reference: 14) Ina Y, Takada K, Yamamoto M et al: HLA and sarcoidosis in the Japanese. Chest 1989; 95: 1257-1261. – reference: 17) Hosoda Y, Iwai K, daka M et al: Recent epidemiological features of sarcoidosis. In: Jones Williams W, Davis BH, eds. Proc Eighth International Confernce on Sarcoidosis and other Granulomatous Disorders.: Alfa Omega Publishing, Cardif, 1980; 519-521. – reference: 15) Ishihara M, Ishida T, Inoko H et al: HLA serological and class II genotyping in sarcoidosis patients in Japan. Jpn J Ophthalmol 1996; 40: 86-94. – reference: 19) Falconer DS: The inheritance of liability to certain diseases, estimated from the incidence among relatives. Ann. Hum. Genet. 1965; 29: 51-76. – reference: 5) 細田 裕, 柳川 洋, 小高 稔 他: サルコイドーシスの家族発生の疫学的検討. 日本胸部臨床 1979; 38: 872-878. |
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| Title | Familial Occurrence of Sarcoidosis in Japan and Analysis of Genetic Influence |
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