Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS

Clin Genet. 2000 Sep;58(3):181-91. doi: 10.1034/j.1399-0004.2000.580305.x.

Abstract

An allele association study of 19 polymorphisms in surfactant proteins SP-A1, SP-A2, SP-B, and SP-D genes in acute respiratory distress syndrome (ARDS) was carried out. Trend-test analysis revealed differences (p < 0.05) in the frequency of alleles for some of the microsatellite markers flanking SP-B, and for one polymorphism (C/T) at nucleotide 1580 [C/T (1580)], within codon 131 (Thr131Ile) of the SP-B gene. The latter determines the presence or absence of a potential N-linked glycosylation site. Multivariate analysis revealed significant differences only for the C/T (1580) polymorphism. When the ARDS population was divided into subgroups, idiopathic (i.e., pneumonia, etc.) or exogenic (i.e., trauma, etc.), significant differences were observed for the C/T (1580), for the idiopathic ARDS group, and the frequency of the C/C genotype was increased in this group. Based on the odds ratio, the C allele may be viewed as a susceptibility factor for ARDS. Although the expression of both C and T alleles occurs in heterozygous individuals, it is currently not known whether these alleles correspond to similar levels of SP-B protein. These data suggest that SP-B or a linked gene contributes to susceptibility to ARDS.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Amino Acid Substitution / genetics
  • Base Sequence
  • DNA Primers
  • Exons / genetics
  • Gene Frequency / genetics
  • Genotype
  • Germany
  • Glycoproteins / genetics*
  • Humans
  • Infant, Newborn
  • Logistic Models
  • Lung / metabolism
  • Lung / pathology
  • Microsatellite Repeats / genetics
  • Polymorphism, Genetic / genetics*
  • Proteolipids / genetics*
  • Pulmonary Surfactant-Associated Protein A
  • Pulmonary Surfactant-Associated Protein D
  • Pulmonary Surfactant-Associated Proteins
  • Pulmonary Surfactants / genetics*
  • Respiratory Distress Syndrome, Newborn / genetics*

Substances

  • DNA Primers
  • Glycoproteins
  • Proteolipids
  • Pulmonary Surfactant-Associated Protein A
  • Pulmonary Surfactant-Associated Protein D
  • Pulmonary Surfactant-Associated Proteins
  • Pulmonary Surfactants
  • SFTPA1 protein, human
  • SFTPA2 protein, human