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Polymorphisms of human SP‐A , SP‐B , and SP‐D genes: association of SP‐B Thr131Ile with ARDS
Author(s) -
Lin Z,
Pearson C,
Chinchilli V,
Pietschmann SM,
Luo J,
Pison U,
Floros J
Publication year - 2000
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2000.580305.x
Subject(s) - ards , allele , genotype , biology , genetics , gene , allele frequency , polymorphism (computer science) , microbiology and biotechnology , medicine , lung
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.