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 |
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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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