Korean J Pediatr.  2004 Jul;47(7):735-739.

Association between the Human Surfactant Protein-A(SP-A) Gene Locus and Respiratory Distress Syndrome in Korean Neonates

• Choe JH
• Oh MH
• Ko JH
• Kim SY
• Lee IK
• Bae CW

Abstract

PURPOSE
Respiratory distress syndrome(RDS) is caused by a deficiency of pulmonary surfactant, which is a lipoprotein complex. Both low levels of surfactant protein A(SP-A) and SP-A alleles have been associated with RDS. However, the genes underlying susceptibility to RDS are insufficiently known. The candidate-gene approach was used to study the association between the SP-A gene locus and RDS in the genetically homogeneous Korean population.
METHODS
A PCR-cRFLP-based methodology was used to detect SP-A genotype. Twenty four neonates with RDS were matched pairwise to those without RDS.
RESULTS
The frequencies of specific genotypes such as 6A(2), 1A(0) were increased, but the frequency of specific 1A(2) genotype was increased in control group. 6A(2)/1A(0) were also increased in the RDS group. Infants who did not have RDS develop, despite prematurity and lack of steroid therapy, had a higher frequency of the 1A(2) allele than infants who had received steroid therapy and had RDS develop. However, infants who had received steroid therapy and had RDS develop had a higher frequency of the 1A(0) allele than infants who did not have RDS develop, despite prematurity and lack of steroid therapy.
CONCLUSION
SP-A alleles/haplotypes are susceptible(6A(2), 1A(0), 6A(2)/1A(0)) or protective(1A(2)) factors for RDS. We conclude that the SP-A gene locus is an important determinant for predisposition to RDS in neonates

Keyword

Surfactant; Pulmonary surfactant associated protein-A; Respiratory distress syndrome; Steroids

MeSH Terms

Alleles
Genotype
Humans*
Infant
Infant, Newborn*
Lipoproteins
Pulmonary Surfactants
Steroids
Lipoproteins
Pulmonary Surfactants
Steroids