Preliminary study of identified novel susceptibility loci for HAPE risk in a Chinese male Han population.
Per Med
; 21(4): 227-241, 2024.
Article
em En
| MEDLINE
| ID: mdl-38940394
ABSTRACT
High altitude pulmonary edema (HAPE) is a life-threatening form of non-cardiogenic pulmonary edema. In recent years, association studies have become the main method for identifying HAPE genetic loci. A genome-wide association study (GWAS) of HAPE risk-associated loci was performed in Chinese male Han individuals (164 HAPE cases and 189 healthy controls) by the Precision Medicine Diversity Array Chip with 2,771,835 loci (Applied Biosystems Axiom™). Eight overlapping candidate loci in CCNG2, RP11-445O3.2, NUPL1 and WWOX were finally selected. In silico functional analyses displayed the PPI network, functional enrichment and signal pathways related to CCNG2, NUPL1, WWOX and NRXN1. This study provides data supplements for HAPE susceptibility gene loci and new insights into HAPE susceptibility.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Predisposição Genética para Doença
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Polimorfismo de Nucleotídeo Único
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Povo Asiático
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Doença da Altitude
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Estudo de Associação Genômica Ampla
Limite:
Adult
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Humans
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Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Per Med
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
China