Erythrocyte Complement Receptor 1 Gene Polymorphisms and Neonatal Respiratory Distress Syndrome

In fl ammatory cascades and immune system dysfunction play a major role in the pathogenesis of RDS as they may produce many immune complexes that could be cleared by ECR1 to prevent worsening of the in fl ammation. 5,6 The expression of ECR1 is controlled by the ECR1 gene that located on chromosome 1 at the locus 1q32 and its quantitative expression is regulated by two ECR1 alleles that vary in having genomic HindIII fragments of either 7.4 or 6.9 kb and that regulate high (H allele) or low (L allele) ECR1 expression, respectively, across a 10-fold range. 7 There are three commonly considered ECR1 gene single nucleotide polymorphisms (SNPs) associated with the ECR1 concentration on Ecr1 Abstract To evaluate the role of erythrocyte complement receptor 1 ( ECR1 ) gene in the predisposition to respiratory distress syndrome (RDS), we studied 50 infants with RDS and 50 controls. Real-time polymerase chain reaction allelic discrimination analysis of A3650G (rs2274567) and genotyping of the alleles (HindIII) were performed. Allele L of HindIII restricted single nucleotide polymorphism (SNP) associated with the severity of RDS. Duration of oxygen and ventilation in genotypes AA and AG of A3650G SNP was longer than genotype GG (17.6 (cid:1) 19.4 and 8.6 (cid:1) 4.5 days, p ¼ 0.01) and (8.9 (cid:1) 11.9 and 3.9 (cid:1) 3.53 days, p ¼ 0.03), respectively. A3650G and HINDIII digested gene polymorphisms of ECR1 may be of little importance for RDS.