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The Mucin-1 568 Adenosine to Guanine Polymorphism Influences Serum Krebs von den Lungen-6 levels

Heart Lung Center Utrecht, Department of Pulmonology, and Department of Clinical Chemistry, St. Antonius Hospital, Nieuwegein, The Netherlands

Correspondence and requests for reprints should be addressed to Dr. J. C. Grutters, Department of Pulmonology, St Antonius Hospital, Koekoekslaan 1, 3435 CM Nieuwegein, the Netherlands. E-mail: j.grutters{at}antonius.net

Krebs von den Lungen (KL)-6 offers a new perspective as a disease marker in pulmonary diseases. The aim of this study was to analyze whether serum KL-6 levels are dependent on the functional adenosine to guanine mucin-1 (MUC1) gene polymorphism at nucleotide position 568 in a well-characterized white population. Polymorphisms were determined in 327 healthy, white individuals and 74 patients with sarcoidosis, using a PCR-sequence–specific primer assay. The serum KL-6 levels were measured by ELISA. Significant differences between serum KL-6 levels of healthy subjects who were grouped according to MUC1 568 genotype were observed (P < 0.0001) (mean ± SEM): AA (195.2 ± 9.9 U/ml; 95% confidence interval [CI], 175.7–214.8), AG (246.0 ± 8.6 U/ml; 95% CI, 229.0–263.1), and GG (302.6 ± 11.8 U/ml; 95%CI, 279.3–326.0). In the patients with sarcoidosis, the results were (mean ± SD): AA (550.1 ± 411.7; 95% CI, 380.2–720.1), AG (716.3 ± 452.4; 95% CI, 547.4–885.2), GG (1,151.0 ± 1122; 95% CI, 610.1–1692.0); P = 0.02. Comparison of the KL-6 levels in which the 568 genotype was ignored rendered 6 out of 74 (7.5%) misclassifications of "elevated" versus "normal" KL-6 levels or vice versa. In conclusion, the MUC1 568 A to G polymorphism may be of interest for diagnostic purposes because our study delivered in vivo evidence that it contributes to interindividual variations in KL-6 levels.

Key Words: KL-6 • Krebs von den Lungen-6 • mucin-1 • polymorphism