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Published ahead of print on August 5, 2004, doi:10.1164/rccm.200404-481OC
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American Journal of Respiratory and Critical Care Medicine Vol 170. pp. 1185-1187, (2004)
© 2004 American Thoracic Society
doi: 10.1164/rccm.200404-481OC


Original Article

The Clara Cell10 Adenine38Guanine Polymorphism and Sarcoidosis Susceptibility in Dutch and Japanese Subjects

Rob Janssen, Hiroe Sato, Jan C. Grutters, Henk J. T. Ruven, Ron M. du Bois, Ryosuke Matsuura, Masao Yamazaki, Shigeki Kunimaru, Takateru Izumi, Ken I. Welsh, Sonoko Nagai and Jules M. M. van den Bosch

Heart Lung Center Utrecht, Utrecht; Departments of Pulmonology and Clinical Chemistry, St. Antonius Hospital, Nieuwegein, The Netherlands; Clinical Genomics Group, Royal Brompton Hospital and National Heart and Lung Institute, Imperial College of Science, Technology and Medicine, London, United Kingdom; and Department of Respiratory Medicine, Central Clinic Kyoto, Graduate School of Medicine, Kyoto University, Kyoto, Japan

Correspondence and requests for reprints should be addressed to Jules M. M. van den Bosch, M.D., Ph.D., Department of Pulmonology, St. Antonius Hospital, Koekoekslaan 1, Nieuwegein, 3435 CM The Netherlands. E-mail: j.vandenbosch{at}antonius.net

CC10 (CC16, uteroglobin) is a pulmonary protein postulated to play a counter regulatory role in sarcoidosis pathogenesis. The adenine38guanine (A38G) polymorphism of the encoding CC10 gene (SCGB1A1) is functional. Recently, an association between the low CC10 producing 38A allele and sarcoidosis susceptibility has been reported in Japanese patients from Hokkaido. The aim of the present study was to confirm this association in a clinically well characterized population of Dutch white and Kyoto Japanese patients with sarcoidosis and control subjects. No difference in genotype or allele frequency was found between patients with sarcoidosis and control subjects in either ethnic population. Remarkably, however, a significant difference was found between the control subjects from Kyoto and Hokkaido, but not between the Japanese groups of patients with sarcoidosis. Furthermore, review of previously published A38G genotyping results showed a consistent difference in CC10 A38G allele frequencies between whites and Japanese subjects. We conclude that the CC10 A38G polymorphism does not influence sarcoidosis susceptibility in Dutch whites or in Japanese subjects from Kyoto. This stresses the importance of studying the influence of polymorphisms on disease susceptibility in multiple ethnically and geographically distinct disease and control populations before reaching conclusions.

Key Words: Clara cell secretory protein 10 • uteroglobin • polymorphism • sarcoidosis




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