FREQUENCY OF SP-B AND SP-A1 GENE POLYMORPHISMS IN THE ACUTE RESPIRATORY-DISTRESS SYNDROME (ARDS)

One polymorphism for the SP-B gene and one for the SP-A1 gene have bee n described. The SP-B polymorphism appears with higher frequency in ch ildren diagnosed with respiratory distress syndrome (RDS) compared to those without RDS. The SP-A1 polymorphism appears in higher frequency in populations with low incidence of RDS. In this report we determine the frequency of these polymorphisms in patients with acute respirator y distress syndrome (ARDS) and healthy controls. For the SP-A1 polymor phism at nucleotide 1193 (codon 50), the frequency of genotypes is sim ilar between ARDS-patients (n = 29) and healthy control individuals (n = 21). There is no significant difference in mortality among groups w ith different genotypes for the small cohort of ARDS-patients tested. PCR analysis of the SP-B polymorphism in intron 4 reveals deletion/ins ertion variants in 46,6% of the ARDS-patients (n = 15), compared to on ly 4,3% of the control group (n = 23) (p < 0,05). There is no differen ce in mortality for ARDS-patients with or without deletion/insertion v ariants. These data indicate, that the distribution of the SP-A1 genot ypes between ARDS-patients and healthy control individuals does not di ffer when small groups of individuals are studied with the SP-A1 two a llele system (C) under bar TC-type and (G) under bar TC-type alleles). The intron 4 SP-B polymorphism appears with higher frequency in patie nts with ARDS than in controls. The biological relevance (if any) of t his polymorphism for mRNA stability, RNA splicing or protein synthesis remains unclear.