title: EDN1 Gene Variant is Associated with Neonatal Persistent Pulmonary Hypertension.
abstract: Recent studies have suggested associations between certain genetic variants and susceptibility to persistent pulmonary hypertension of the newborn (PPHN). The aim of the study was to evaluate the association of EDN1, NOS3, ACE and VEGFA genes with PPHN. Neonates with respiratory distress were enrolled in the study, whose gestational age ≥34 weeks, age ≤3 days. They were divided into PPHN and non-PPHN group. The EDN1, NOS3, ACE and VEGFA genes were detected by next-generation sequencing, and the results were validated by Sanger sequencing. Serum endothelin-1 (ET-1) levels were quantified by ELISA. A total of 112 neonates were enrolled (n = 55 in PPHN group; n = 57 in non-PPHN group). There is a significantly difference in the genotype distribution of EDN1 rs2070699 between the PPHN and non-PPHN group (P = 0). A higher frequency of the rs2070699 T allele was observed in the PPHN group (54.5% vs 27.2%; OR = 3.89; 95%CI 1.96-7.72). The rs2070699 T allele was associated with higher ET-1 levels (3.333 ± 2.517 pg/mL vs 1.223 ± 0.856 pg/mL; P = 0.002) and a longer ventilation period (5.8 ± 2.6 days vs 3.6 ± 3.3 days; P = 0). The results suggest there is an association between EDN1 and PPHN. The presence of the rs2070699 T allele increased the risk of PPHN in neonates with respiratory distress.
authors.affiliation: Department of Neonatology, Children's Hospital of Fudan University, Shanghai, China.
authors.forename: Mei
authors.initials: M
authors.lastname: Mei
authors.affiliation: Department of Neonatology, Children's Hospital of Fudan University, Shanghai, China.
authors.forename: Guoqiang
authors.initials: G
authors.lastname: Cheng
authors.affiliation: Department of Neonatology, Children's Hospital of Fudan University, Shanghai, China.
authors.forename: Bijun
authors.initials: B
authors.lastname: Sun
authors.affiliation: Department of Neonatology, Children's Hospital of Fudan University, Shanghai, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Yang
authors.affiliation: Institute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
authors.forename: Huijun
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, China.
authors.forename: Jinqiao
authors.initials: J
authors.lastname: Sun
authors.affiliation: Department of Neonatology, Children's Hospital of Fudan University, Shanghai, China.|Key Laboratory of Neonatal Diseases, Ministry of Health, China.
authors.forename: Wenhao
authors.initials: W
authors.lastname: Zhou
mesh_terms: D000483:Alleles; D001794:Blood Pressure; D019332:Endothelin-1 / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007231:Infant, Newborn; D016015:Logistic Models; D008297:Male; D010547:Persistent Fetal Circulation Syndrome / Q000235:genetics* / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors
chemical_list: D019332:Endothelin-1