Preliminary study of identified novel susceptibility loci for HAPE risk in a Chinese male Han population.

Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-06-28 DOI:10.1080/17410541.2024.2365617
Beibei Zhao, Changchun Liu, Yijin Qi, Tianyi Zhang, Yuhe Wang, Xue He, Li Wang, Tianbo Jin
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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.

在中国汉族男性人群中初步研究已发现的新的 HAPE 风险易感基因位点。
高原肺水肿(HAPE)是一种危及生命的非心源性肺水肿。近年来,关联研究已成为确定 HAPE 遗传位点的主要方法。研究人员利用包含 2,771,835 个位点的精准医学多样性阵列芯片(Applied Biosystems Axiom™)对中国男性汉族个体(164 例 HAPE 病例和 189 例健康对照)进行了 HAPE 风险相关位点的全基因组关联研究(GWAS)。最终选出了 CCNG2、RP11-445O3.2、NUPL1 和 WWOX 中的八个重叠候选位点。硅功能分析显示了与 CCNG2、NUPL1、WWOX 和 NRXN1 相关的 PPI 网络、功能富集和信号通路。这项研究为 HAPE 易感基因位点提供了数据补充,并为了解 HAPE 易感性提供了新的视角。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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