サルコイドーシスの家族発生 -本邦家族発症例の文献的考察と遺伝的素因の検討-

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  • Familial Occurrence of Sarcoidosis in Japan and Analysis of Genetic Influence

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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.<br>A larger sample size for epidemiological study and further investigations of genes concerned with sarcoidosis would permit additional multigenic properties.

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