Published ahead of print on August 5, 2004, doi:10.1164/rccm.200404-481OC Am. J. Respir. Crit. Care Med., Volume 170, Number 11, December 2004, 1185-1187 A more recent version of this article appeared on December 1, 2004
Submitted on April 11, 2004 Clara Cell 10 Protein Gene Polymorphism and Sarcoidosis Susceptibility in Dutch and JapaneseRob Janssen1,1 Department of Pulmonology, St. Antonius Hospital, Heart Lung Center Utrecht, Nieuwegein, The Netherlands, 2 Clinical Genomics Group, Royal Brompton Hospital and National Heart and Lung Institute, Imperial College of Science, Technology and Medicine, London, United Kingdom, 3 Department of Clinical Chemistry, St. Antonius Hospital, Nieuwegein, The Netherlands, 4 Department of Respiratory Medicine, Central Clinic Kyoto, Graduate School of Medicine, Kyoto University, Kyoto, Japan * To whom correspondence should be addressed. E-mail: j.grutters{at}antonius.net.
CC10 (CC16, uteroglobin) is a pulmonary protein, postulated to play a counter regulatory role in sarcoidosis pathogenesis. The A38G polymorphism of the encoding CC10 gene (UGB; 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-characterised population of Dutch Caucasian and Kyoto Japanese sarcoidosis patients and controls. No difference in genotype or allele frequency was found between sarcoidosis patients and controls in either ethnic population. Remarkably, however, a significant difference was found between the controls from Kyoto and Hokkaido, but not between the Japanese sarcoidosis groups. Further review of previously published A38G genotyping results showed a consistent difference in CC10 A38G allele frequencies between Caucasians and Japanese. We conclude that the CC10 A38G polymorphism does not influence sarcoidosis susceptibility in Dutch Caucasians or in Japanese 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: CC10, CC16, uteroglobin, polymorphism, sarcoidosis
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