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J Korean Soc Neonatol. 2005 May;12(1):8-16. Korean. Original Article.
Jo HS , Lee CG , Park YW , Chey MJ , Yoon HJ , Cho SI , Lee DS , Chang YH , Kim BI , Choi JH .
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. neona@plaza.snu.ac.kr
Department of Pediatrics, Ilsan Paik Hospital, Inje University College of Medicine, Seoul, Korea.
Department of Pediatrics, Seoul Paik Hospital, Inje University College of Medicine, Seoul, Korea.
Department of Pediatrics, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
Seoul Clinical Genomics Inc. II, Seoul, Korea.
School of Public Health and Institute of Health and Environment, Seoul National University, Seoul, Korea.
Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
Human Genome Research Institute, Seoul National University College of Medicine, Seoul, Korea.
Department of Laboratory Medicine, Korea Cancer Center Hospital, Seoul, Korea.
Abstract

PURPOSE: Not all premature infants have respiratory distress syndrome (RDS), although prematurity is the most crucial risk-factor. Since genetic factors are known to be an etiology of RDS, this dissertation examines if specific SP-A alleles/genotypes are associated with either increased or decreased risk of RDS. METHODS: Investigated for this research were 272 preterm Korean infants. Among them, 89 infants with RDS and 183 controlled infants were analyzed for SP-A genotypes by using the real- time PCR assay. RESULTS: The specific frequencies of the alleles of the SP-A1 gene among the preterm infants (n=544 alleles) turned out to be 47.6% for 6A3, 27.2% for 6A2, 23.7% for 6A4, and 1.5% for others. Those of the alleles of the SP-A2 gene were 46.9% for 1A12, 18.9% for 1A6 and 18.9% for 1A10 (n=544 alleles). Others include 3.9% each for 1A and 1.1% for 1A0. These results present great difference from previous studies. This research found new genotypes each of SP-A1 and SP-A2 genes. The 1A12/1A12 genotype has statistical relations with different gestational age under 32 weeks. The 1A12/1A12 was underrepresented (14.6% vs 26.8%) (P<0.05) among the preterm infants with RDS. In the preterm infants with RDS born at gestational age> or =32 wk, the 1A12/1A12 acts as the only significant protective factor from the development of RDS [odds ratio 0.156 (P=0.014, 95% confidence intervals 0.035-0.691)]. CONCLUSION: The SP-A gene polymorphism is the crucial factor to the predisposition to RDS when the gestational ages of preterm infants are higher.

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