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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 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.
J Pediatr (Rio J) ; 98(4): 383-389, 2022.
Article em En | MEDLINE | ID: mdl-34678164
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: MEDLINE Assunto principal: Síndrome da Persistência do Padrão de Circulação Fetal / Síndrome de Aspiração de Mecônio / Fatores de Transcrição Hélice-Alça-Hélice Básicos / Hipertensão Pulmonar Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Newborn Idioma: En Revista: J Pediatr (Rio J) Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Tailândia País de publicação: Brasil
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome da Persistência do Padrão de Circulação Fetal / Síndrome de Aspiração de Mecônio / Fatores de Transcrição Hélice-Alça-Hélice Básicos / Hipertensão Pulmonar Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Newborn Idioma: En Revista: J Pediatr (Rio J) Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Tailândia País de publicação: Brasil