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

Korean Journal of Pediatrics 2004;47(7):735-739.
Published online July 15, 2004.
Association between the Human Surfactant Protein-A(SP-A) Gene Locus and Respiratory Distress Syndrome in Korean Neonates
Jae Hoon Choe1, Myung Ho Oh1, Jung Ho Ko2, Sun Young Kim1, In Kyu Lee1, Chong Woo Bae3
1Department of Pediatrics, Soonchunhyang University Hospital, Chonan, Korea
2Protein Section, Laboratory of Metabolism(LM), National Cancer Institute(NCI), National Institute of Health(NIH)
3Department of Pediatrics, Kyunghee University Hospital, Seoul, Korea
한국 신생아에서 인체 폐 표면활성제 단백-A 유전자와 신생아 호흡곤란증후군과의 상관관계
최재훈1, 오명호1, 고정호2, 김선영1, 이인규1, 배종우3
1순천향대학교 의과대학 소아과학교실
2Protein Section, Laboratory of Metabolism(LM), National Cancer Institute(NCI), National Institute of Health(NIH)
3경희대학교 의과대학 소아과학교실
Correspondence: 
Myung Ho Oh, Email: omh@schch.co.kr
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 6A2, 1A0 were increased, but the frequency of specific 1A2 genotype was increased in control group. 6A2/1A0 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 1A2 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 1A0 allele than infants who did not have RDS develop, despite prematurity and lack of steroid therapy.
Conclusion
: SP-A alleles/haplotypes are susceptible(6A2, 1A0, 6A2/1A0) or protective(1A2) factors for RDS. We conclude that the SP-A gene locus is an important determinant for predisposition to RDS in neonates.
Key Words: Surfactant, Pulmonary surfactant associated protein-A, Respiratory distress syndrome, Steroids


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