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.
journal_name
Immunogeneticsjournal_title
Immunogeneticsauthors
Heidinger K,König IR,Bohnert A,Kleinsteiber A,Hilgendorff A,Gortner L,Ziegler A,Chakraborty T,Bein Gdoi
10.1007/s00251-005-0775-5subject
Has Abstractpub_date
2005-04-01 00:00:00pages
1-7issue
1-2eissn
0093-7711issn
1432-1211journal_volume
57pub_type
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