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Possible association between a polymorphism of EPAS1 gene and persistent pulmonary hypertension of the newborn: a case-control study
Nakwan, Narongsak; Mahasirimongkol, Surakameth; Satproedprai, Nusara; Chaiyasung, Tassamonwan; Kunhapan, Punna; Charoenlap, Cheep; Singkhamanan, Kamonnut; Charalsawadi, Chariyawan.
Afiliação
  • Nakwan, Narongsak; Prince of Songkla University. Faculty of Medicine. Department of Biomedical Sciences. Hat Yai. TH
  • Mahasirimongkol, Surakameth; Ministry of Public Heath. Medical Genetics Center. Department of Medical Sciences. Nonthaburi. TH
  • Satproedprai, Nusara; Ministry of Public Heath. Medical Genetics Center. Department of Medical Sciences. Nonthaburi. TH
  • Chaiyasung, Tassamonwan; Ministry of Public Heath. Medical Genetics Center. Department of Medical Sciences. Nonthaburi. TH
  • Kunhapan, Punna; Ministry of Public Heath. Medical Genetics Center. Department of Medical Sciences. Nonthaburi. TH
  • Charoenlap, Cheep; Hat Yai Hospital. Hat Yai Medical Education Center. Department of Anatomical Pathology. Hat Yai. TH
  • Singkhamanan, Kamonnut; Prince of Songkla University. Faculty of Medicine. Department of Biomedical Sciences. Hat Yai. TH
  • Charalsawadi, Chariyawan; Prince of Songkla University. Faculty of Medicine. Department of Pathology. Hat Yai. TH
J. pediatr. (Rio J.) ; J. pediatr. (Rio J.);98(4): 383-389, July-Aug. 2022. tab, graf
Article em En | LILACS-Express | LILACS | ID: biblio-1386106
Biblioteca responsável: BR1.1
ABSTRACT
Abstract

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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS Tipo de estudo: Observational_studies / Risk_factors_studies Idioma: En Revista: J. pediatr. (Rio J.) Assunto da revista: PEDIATRIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Tailândia País de publicação: Brasil
Texto completo
Adicionar na Minha BVS
Imprimir
XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS Tipo de estudo: Observational_studies / Risk_factors_studies Idioma: En Revista: J. pediatr. (Rio J.) Assunto da revista: PEDIATRIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Tailândia País de publicação: Brasil