PMID- 15700120
OWN - NLM
STAT- MEDLINE
DCOM- 20050616
LR  - 20220224
IS  - 0093-7711 (Print)
IS  - 1432-1211 (Electronic)
IS  - 0093-7711 (Linking)
VI  - 57
IP  - 1-2
DP  - 2005 Apr
TI  - Polymorphisms in the human surfactant protein-D (SFTPD) gene: strong evidence 
      that serum levels of surfactant protein-D (SP-D) are genetically influenced.
PG  - 1-7
AB  - 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.
FAU - Heidinger, Kathrin
AU  - Heidinger K
AD  - Institute of Clinical Immunology and Transfusion Medicine, University of Giessen, 
      Langhansstrasse 7, 35392, Giessen, Germany. 
      Kathrin.S.Heidinger@immunologie.med.uni-giessen.de
FAU - Konig, Inke R
AU  - Konig IR
FAU - Bohnert, Anette
AU  - Bohnert A
FAU - Kleinsteiber, Anja
AU  - Kleinsteiber A
FAU - Hilgendorff, Anne
AU  - Hilgendorff A
FAU - Gortner, Ludwig
AU  - Gortner L
FAU - Ziegler, Andreas
AU  - Ziegler A
FAU - Chakraborty, Trinad
AU  - Chakraborty T
FAU - Bein, Gregor
AU  - Bein G
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20050208
PL  - United States
TA  - Immunogenetics
JT  - Immunogenetics
JID - 0420404
RN  - 0 (Pulmonary Surfactant-Associated Protein D)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Base Sequence
MH  - Female
MH  - Haplotypes
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - *Polymorphism, Single Nucleotide
MH  - Pulmonary Surfactant-Associated Protein D/*blood/*genetics
PMC - PMC7100655
EDAT- 2005/02/09 09:00
MHDA- 2005/06/17 09:00
PMCR- 2020/03/27
CRDT- 2005/02/09 09:00
PHST- 2004/10/19 00:00 [received]
PHST- 2004/12/23 00:00 [revised]
PHST- 2005/02/09 09:00 [pubmed]
PHST- 2005/06/17 09:00 [medline]
PHST- 2005/02/09 09:00 [entrez]
PHST- 2020/03/27 00:00 [pmc-release]
AID - 775 [pii]
AID - 10.1007/s00251-005-0775-5 [doi]
PST - ppublish
SO  - Immunogenetics. 2005 Apr;57(1-2):1-7. doi: 10.1007/s00251-005-0775-5. Epub 2005 
      Feb 8.