Beibei Zhao, Changchun Liu, Yijin Qi, Tianyi Zhang, Yuhe Wang, Xue He, Li Wang, Tianbo Jin
{"title":"Preliminary study of identified novel susceptibility loci for HAPE risk in a Chinese male Han population.","authors":"Beibei Zhao, Changchun Liu, Yijin Qi, Tianyi Zhang, Yuhe Wang, Xue He, Li Wang, Tianbo Jin","doi":"10.1080/17410541.2024.2365617","DOIUrl":null,"url":null,"abstract":"<p><p>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 <i>CCNG2</i>, <i>RP11-445O3.2</i>, <i>NUPL1</i> and <i>WWOX</i> were finally selected. <i>In silico</i> functional analyses displayed the PPI network, functional enrichment and signal pathways related to <i>CCNG2</i>, <i>NUPL1</i>, <i>WWOX</i> and <i>NRXN1</i>. This study provides data supplements for HAPE susceptibility gene loci and new insights into HAPE susceptibility.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"227-241"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Personalized medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1080/17410541.2024.2365617","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/28 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
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.
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