Surfactant Protein A Associated with Respiratory Distress Syndrome in Korean Preterm Infants: Evidence of Ethnic Difference

Abstract

Background: Insufficiency of the pulmonary surfactant system is the primary cause of respiratory distress syndrome (RDS) in preterm infants. Genetic factors, including specific single-nucleotide polymorphisms in the genetic components of surfactant protein A (SP-A1 and SP-A2), affect protein structure and function, as well as risk of RDS. Objective: We investigated the association between variations in SP-A genotypes and RDS within the genetically homogeneous Korean population. Methods: We used TaqMan® real-time polymerase chain reaction technology to assess nine single-nucleotide polymorphisms of SP-A in 261 full-term and 152 preterm infants. Among the preterm infants, 76 infants with RDS were matched with 76 control infants with respect to gestation, use of antenatal steroids and gender. Results: The SP-A2 1A⁰ variant and the homozygous 1A⁰/1A⁰ genotype were associated with protection from RDS (OR 0.31, 95% CI 0.13–0.78). In addition, the 1A¹ carrier genotype (containing one copy of the 1A¹ variant) was associated with increased risk of RDS (OR 2.42, 95% CI 1.06–5.52). The significance of these results is that the association of patterns with RDS was opposite to the findings of previous research with Finnish and North American study populations. Conclusions: We have identified associations between specific variants of the SP-A genes and RDS risk in the Korean preterm study population. Our data strongly support SP-A as a candidate gene for susceptibility to RDS, and reveal the dissimilarity of the associated risk/protective genetic variants between different ethnic study populations.

Maternal surfactant protein A influences the immunoprotective properties of milk in a murine model

“…(28) Pediatric diseases, including respiratory distress syndrome of the newborn and otitis media, are associated with human SP-A polymorphisms (11,12). The impact of maternal SP-A on newborn health via milk immunoprotective properties has to date not been explored.…”

“…Specifically, genetic complexity increases from rodents with one SP-A gene, primates with 2 SP-A genes (SP-A1 and SP-A2), and humans with splice variants and sequence variability of SP-A1 and SP-A2 (10). Polymorphisms of the human SP-A genes are associated with pediatric diseases (11,12).…”

Genetic Determination of Bronchopulmonary Dysplasia Formation: Pros and Cons

“…/2017/ ТОМ 14/ № 1 В многочисленных зарубежных исследованиях [8,39,40] были обнаружены различные однонуклеотидные полиморфизмы в кодирующих областях генов, ассоцииро-ванные с РДС [8,[39][40][41][42][43]. K. S. Lee и соавт.…”

“…При этом данные модели значительно отличались от исследований корейских недоношенных детей [41], в которых аллельный вариант 1A0 гена SFTPA2 и генотип 1A0/1A0 были связа-ны с защитой от РДС. Связь РДС с конкретными варианта-ми SP-A среди различных этнических групп предполагает, что РДС является многофакторным заболеванием со зна-чительной вариабельностью.…”

Genetic risk factors associated with respiratory distress syndrome

“…Various single nucleotide polymorphisms (SNPs) have been discovered in coding regions and untranslated regions of SFTPA1 and SFTPA2 65,66,67), and many association studies with RDS have been reported68,69,70,71,72,73). Lee et al74) and Kim et al75) have presented the distribution and frequency of SP-A alleles in Korean newborns.…”