Polymorphisms of human SP‐A, SP‐B, and SP‐D genes: association of SP‐B Thr131Ile with ARDS
Authors:
- 1 September 2000
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 58 (3) , 181-191
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 (pSP‐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.Keywords
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