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

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.

Keywords: :

• Chinese male Han population
• genetic loci
• GWAS
• HAPE

Supplemental material

Supplementary data for this article can be accessed at https://doi.org/10.1080/17410541.2024.2365617

Author contributions

B Zhao and C Liu: drafted and revised the manuscript; Y Qi: revised it critically for important content; T Zhang and Y Wang: performed the experiments; X He and L Wang: analyzed the data; T Jin: conceived and designed the experiments. All authors have read and approved the manuscript.

Financial disclosure

This work was supported by Science and Technology Major Project of Tibetan Autonomous Region of China (XZ202201ZD0001G) and Key research and development plan of Tibet Autonomous Region (XZ202101ZY0018G). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Competing interests disclosure

The authors have no competing interests or relevant affiliations with any organization or entity with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Writing disclosure

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The study complied with the Declaration of Helsinki and was approved by the Ethics Committee of the Affiliated Hospital of Xizang Minzu University (Eth-Res-2022-4).

Data availability statement

All data obtained from the current study are available from the corresponding author upon reasonable request.

Additional information

Funding

This work was supported by Science and Technology Major Project of Tibetan Autonomous Region of China (XZ202201ZD0001G) and Key research and development plan of Tibet Autonomous Region (XZ202101ZY0018G).