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

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)...

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Detalles Bibliográficos
Autores principales: Nakwan, Narongsak, Mahasirimongkol, Surakameth, Satproedprai, Nusara, Chaiyasung, Tassamonwan, Kunhapan, Punna, Charoenlap, Cheep, Singkhamanan, Kamonnut, Charalsawadi, Chariyawan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9432230/
https://www.ncbi.nlm.nih.gov/pubmed/34678164
http://dx.doi.org/10.1016/j.jped.2021.09.003
Descripción
Sumario: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.