Polymorphisms in the human surfactant protein-D (SFTPD) gene: strong evidence that serum levels of surfactant protein-D (SP-D) are genetically influenced |
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Authors: | Kathrin Heidinger Inke R. König Anette Bohnert Anja Kleinsteiber Anne Hilgendorff Ludwig Gortner Andreas Ziegler Trinad Chakraborty Gregor Bein |
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Affiliation: | (1) Institute of Clinical Immunology and Transfusion Medicine, University of Giessen, Langhansstrasse 7, 35392 Giessen, Germany;(2) Institute of Medical Biometry and Statistics, University at Lübeck, 23538 Lübeck, Germany;(3) Department of Paediatrics, University of Giessen, 35392 Giessen, Germany;(4) Department of Paediatrics, University of Saarland, 66421 Homburg/Saar, Germany;(5) Institute for Medical Microbiology, University of Giessen, 35394 Giessen, Germany |
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Abstract: | The collectin surfactant protein-D (SP-D) plays a significant role in innate immunity. Epidemiological studies described associations between single nucleotide polymorphisms (SNPs) of the human gene coding surfactant protein-D (SFTPD) and infectious pulmonary diseases. Studies on twins indicated very strong genetic dependence for serum levels of SP-D. The aim of this study was to determine the genetic influence of sequence variations within the SFTPD gene on the constitutional serum SP-D levels. We sequenced the 5 untranslated region (5UTR), the coding region and the 3 region of the SFTPD gene of 32 randomly selected blood donors. Six validated SNPs were genotyped with sequence-specific probes (TaqMan 7000) in 290 German blood donors. Serum SP-D levels were analysed by ELISA, and the association of SFTPD haplotype estimates with the quantitative phenotype serum SP-D level was determined. One single SFTPD haplotype (allele frequency 13.53%) revealed a negative association with serum SP-D levels (P<0.0001). This was confirmed in a second prospectively collected group of blood donors (n=160, P=0.0034). The discovery of a frequent negative variant of the SFTPD gene provides a basis for genetic analysis of the function of SP-D in the resistance against pulmonary infections and inflammatory disorders in humans. |
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Keywords: | Surfactant protein-D Single nucleotide polymorphism Serum concentrations Haplotypes |
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