Journal article

Publication year: 2005

Pages: 1-7

Journal: Immunogenetics

Volume number: 57

Issue number: 1-2

ISSN: 0093-7711

eISSN: 1432-1211

Open access status: Green

DOI Link: https://doi.org/10.1007/s00251-005-0775-5

Publisher: Springer

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 (5'UTR), 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.

Harvard Citation style: Heidinger, K., König, I., Bohnert, A., Kleinsteiber, A., Hilgendorff, A., Gortner, L., et al. (2005) Polymorphisms in the human surfactant protein-D (SFTPD) gene:: strong evidence that serum levels of surfactant protein-D (SP-D) are genetically influenced, Immunogenetics, 57(1-2), pp. 1-7. https://doi.org/10.1007/s00251-005-0775-5

APA Citation style: Heidinger, K., König, I., Bohnert, A., Kleinsteiber, A., Hilgendorff, A., Gortner, L., Ziegler, A., Chakraborty, T., & Bein, G. (2005). Polymorphisms in the human surfactant protein-D (SFTPD) gene:: strong evidence that serum levels of surfactant protein-D (SP-D) are genetically influenced. Immunogenetics. 57(1-2), 1-7. https://doi.org/10.1007/s00251-005-0775-5