On April 29, 2025, a study led by Profs. XU Tao and HE Shunmin from the Institute of Biophysics of the Chinese Academy of Sciences, published in Genomics, Proteomics & Bioinformatics, has revealed how human leukocyte antigen (HLA) genes, central to the immune system, influence both pathogen resistance and susceptibility to autoimmune diseases.

Focusing on the Han Chinese population, the study offers new evidence for the co-evolution of humans and pathogens.

This study, centered on the "NyuWa" genome resource, utilized advanced HLA genotyping tools to perform high-resolution (up to 6-digit) genotyping of 31 HLA genes in 8,278 individuals worldwide.

It achieved an accuracy of 94% to 97% at the amino acid sequence level. The resulting HLA gene data resource (http://bigdata.ibp.ac.cn/HLAtyping) provides a valuable reference for HLA gene diversity across global populations, particularly among the Han Chinese.

Based on this resource, the study systematically explored the genetic correlations between pathogen-adapted HLA genes and autoimmune disease susceptibility in the Han Chinese population, offering an evolutionary medicine perspective on disease origins and progression.

By analyzing the genetic associations between pathogen-adapted HLA genes and those linked to autoimmune diseases, the study revealed that many HLA alleles involved in pathogen adaptation also increase the risk of autoimmune diseases.

The application of this HLA data resource in the study of pathogen adaptation and autoimmune disease evolution reveals a close link between long-term human adaptation to microbial environments and the development of autoimmune diseases.

This not only provides a novel approach for understanding the origins of disease and human evolution but also offers crucial support for improving medical practices and addressing modern health challenges.

Figure. Overview of HLA Data Resources and Their Applications in HLA Gene Evolution

（Image by XU Tao and HE Shunmin's group）

Article link:

https://academic.oup.com/gpb/advance-article/doi/10.1093/gpbjnl/qzaf038/8121947

Contact: HE Shunmin

Institute of Biophysics, Chinese Academy of Sciences

Beijing 100101, China

E-mail:heshunmin@ibp.ac.cn

（Reported by Profs. XU Tao and HE Shunmin's group）