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Published ahead of print on December 15, 2005, doi:10.1165/rcmb.2005-0151OC

Am. J. Respir. Cell Mol. Biol., Volume 34, Number 4, April 2006, 496-499

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Submitted on April 24, 2005
Revised on December 12, 2005

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

Rob Janssen1*, Adrian Kruit1, Jan C Grutters1, Henk J Ruven2, Wim B Gerritsen2, and Jules M van den Bosch1

1 Department of Pulmonology, Heart Lung Center Utrecht, St Antonius Hospital, Nieuwegein, The Netherlands, 2 Department of Clinical Chemistry, St Antonius Hospital, Nieuwegein, The Netherlands

* To whom correspondence should be addressed. E-mail: r.janssen{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 gene polymorphism at nucleotide position 568 in a well-characterized white population. Polymorphisms were determined in 327 healthy, white Caucasian individuals and 74 sarcoidosis patients, using a polymerase chain reaction-sequence-specific primers 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; 95%CI): AA (195.2 ± 9.9 U/ml; 95%CI: 175.7-214.8 U/ml), AG (246.0 ± 8.6 U/ml; 95%CI: 229.0-263.1 U/ml) and GG (302.6 ± 11.8 U/ml; 95%CI: 279.3-326.0 U/ml). In the sarcoidosis patients, the results were: (mean ± SD; 95% CI): AA (550.1 ± 411.7; 95% CI: 380.2-720.1), AG (716.3 ± 452.4; 95% CI: 547.4-885.2), GG (1151.0 ± 1122; 95% CI: 610.1-1692.0), p = 0.02. Comparison of the KL-6 levels in which the 568 genotype was ignored rendered six out of 74 (7.5%) misclassifications of 'elevated' versus 'normal' KL-6 levels or vice versa. In conclusion, the mucin-1 568 A to G polymorphism may be of interest for diagnostic purposes as our study delivered in vivo evidence that it contributes to inter-individual variations in KL-6 levels.




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D. J. Lederer, S. Jelic, R. C. Basner, A. Ishizaka, and J. Bhattacharya
Circulating KL-6, a biomarker of lung injury, in obstructive sleep apnoea
Eur. Respir. J., April 1, 2009; 33(4): 793 - 796.
[Abstract] [Full Text] [PDF]


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