Possible association between a polymorphism of EPAS1 gene and persistent pulmonary hypertension of the newborn: a case-control study.

Autor:	Nakwan N; Prince of Songkla University, Faculty of Medicine, Department of Biomedical Sciences, Hat Yai, Thailand; Hat Yai Hospital, Hat Yai Medical Education Center, Department of Pediatrics, Hat Yai, Thailand., Mahasirimongkol S; Ministry of Public Heath, Department of Medical Sciences, Division of Genomic Medicine and Innovation Support, Medical Genetics Center, Nonthaburi, Thailand., Satproedprai N; Ministry of Public Heath, Department of Medical Sciences, Division of Genomic Medicine and Innovation Support, Medical Genetics Center, Nonthaburi, Thailand., Chaiyasung T; Ministry of Public Heath, Department of Medical Sciences, Division of Genomic Medicine and Innovation Support, Medical Genetics Center, Nonthaburi, Thailand., Kunhapan P; Ministry of Public Heath, Department of Medical Sciences, Division of Genomic Medicine and Innovation Support, Medical Genetics Center, Nonthaburi, Thailand., Charoenlap C; Hat Yai Hospital, Hat Yai Medical Education Center, Department of Anatomical Pathology, Hat Yai, Thailand., Singkhamanan K; Prince of Songkla University, Faculty of Medicine, Department of Biomedical Sciences, Hat Yai, Thailand., Charalsawadi C; Prince of Songkla University, Faculty of Medicine, Department of Pathology, Hat Yai, Thailand. Electronic address: cchariya@medicine.psu.ac.th.
Jazyk:	angličtina
Zdroj:	Jornal de pediatria [J Pediatr (Rio J)] 2022 Jul-Aug; Vol. 98 (4), pp. 383-389. Date of Electronic Publication: 2021 Oct 20.
DOI:	10.1016/j.jped.2021.09.003
Abstrakt:	Objective: To explore possible genes related to the development of persistent pulmonary hypertension of the newborn (PPHN). Methods: The authors identified 285 single nucleotide polymorphisms (SNPs) of 11 candidate genes (BMPR2, EPAS1, PDE3A, VEGFA, ENG, NOTCH3, SOD3, CPS1, ABCA3, ACVRL1, and SMAD9), using an Illumina Asian Screening Array-24 v1.0 BeadChip Array. The FastLmmC and R package was used for statistical analyses. The chi-square test and Cochrane-Armitage trend test were used to compare the allele and genotype frequencies between the groups and to test the genetic models, respectively. Results: A total of 45 PPHN infants and 294 control subjects were analyzed. The most common cause of PPHN was meconium aspiration syndrome. Among the 285 SNPs, 17 SNPs from 6 candidate genes (BMPR2, EPAS1, PDE3A, VEGFA, ENG, and NOTCH3) were significantly associated with PPHN (P < 0.05). After using the Bonferroni correction (P < 0.00018), only the rs17034984 SNP located in intron 1 of the EPAS1 gene remained significantly different between the PPHN and control subjects (P = 0.00014). The frequency of the TC/TT genotype of rs17034984 in the gene with the dominant model was significant in the patients with PPHN (OR = 5.38, 95% CI: 2.15-13.49). The T allele frequency of rs17034984 in the gene showed a significant difference compared with the control subjects (OR = 4.89, 95% CI: 2.03-11.82). Conclusions: The present study suggests that the rs17034984 variant of EPAS1 gene is associated with PPHN. Competing Interests: Conflicts of interest The authors declare no conflicts of interest. (Copyright © 2021 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.)
Databáze:	MEDLINE
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