Genetic impact of erythrocyte complement receptor 1(ECR1) A3650g polymorphism on neonatal respiratory distress syndrome in egyptian neonates / Marian Nagui Nazeer Guirguis ; Supervised Ahmed Alsayed Altaweel , Walaa Ahmed Rabie , Walaa Alsharaany

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Background: Complement receptor 1is a membrane-bound single-chain glycoprotein. Its expression on erythrocytes contributes to immune complex clearance and transfer of C3b- opsonized antigens to splenic and hepatic macrophages. Respiratory distress syndrome (RDS) is a relatively common syndrome characterized by shortness of breath and respiratory failure. In premature infants RDS develop because of impaired surfactant synthesis and secretion with resultant hypoxemia and hypercarbia. Aim: was to assess the association between genetic polymorphisms of Eryrthocyte Complement receptor1 gene and the susceptibility to Neonatal respiratory distress syndrome (NRDS) in Egypt. Methods: This study was carried out on 50 neonates <37 weeks gestational age presenting with RDS and 50 cross matched neonates without RDS as control group. Two gene polymorphisms were studied: Single nucleotide polymorphism (SNP) was analyzed by real- time PCR (RT-PCR) allelic discrimination analysis of A3650G SNP (rs2274567) of ECR1gene using TaqMan SNP genotyping , while genotyping of the other SNP ( HindIII digested ECR1) alleles was done using restriction fragment length polymorphism( PCR- RFLP). Results: The results of this study revealed that birth weight, gestational age and Apgar score at 5 min (p-value<0.001) are statistically significant factors in development of RDS. However, maternal risk factors, mode of delivery, Alleles A,G,H were found to be non- statistically significant factors. However, Alelle L was found to be significant statistically in severity of RDS grade (p-value=0.004)

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