The deep coverage of human MHC region coverage by Anhui Medical University, Fudan University and Huada Gene Research Institute was recently completed. This study successfully constructed the most complete database of MHC genetic variation in Chinese Han population to date, and expounded its important value in the study of complex diseases. On the 23rd, the internationally renowned professional magazine "Nature Genetics" was published online in full.
MHC, the major histocompatibility complex, is also known in humans as HLA, also known as human leukocyte surface antigen, including a series of closely linked loci that are closely related to human immune system function, involving tumors, autoimmune The occurrence and development of almost all complex diseases such as immunodeficiency, allergies, infections and metabolism are called "main antigens" of human beings. To clarify the relationship between the area and the disease has always been a hotspot and a difficult point in the field of life medicine research. In recent years, the European population has used the established MHC region genetic variation reference map from the MHC region of the Type I Diabetes Alliance to carry out MHC of complex diseases in many European populations. Relevance research. Due to the lack of a large sample size of the MHC genetic variation reference map in China, there are few studies on the use of fine positioning strategies to find pathogenic mutations associated with complex diseases in the MHC region.
This study is the first large-scale sample deep sequencing of the MHC region of the Chinese population. Through the self-developed MHC target region capture chip, high-depth sequencing and analysis of the MHC target region of 20635 population samples, successfully established the world's largest sample of the Chinese Han population MHC full-region complete genetic variation database. Through accurate sequence analysis and genotyping of MHC region, the MHC region mutation site and HLA gene polymorphism map of Chinese population were completely displayed, which laid a solid foundation for the study of the correlation between complex diseases and MHC regions in Chinese population. In the case of psoriasis, a comprehensive and systematic large-scale study on the correlation of MHC regional genetic variation in the incidence of Chinese Han people's psoriasis patients was carried out for the first time. Several new psoriasis problems were discovered. The gene and locus, while revealing the psoriasis susceptibility locus in the Chinese population, further demonstrates the great application value of the Han-MHC database based on complete sequencing in the study of complex diseases in Chinese population.
The project leader and Professor Zhang Xuejun of Anhui Medical University introduced that the results will provide new opportunities for in-depth study of the relevant mechanisms of MHC regional genetic polymorphism in the occurrence and development of complex diseases in Chinese population, especially the complexities that are being carried out in China. Accurate medical research on the disease will play an important role. At the same time, the study provides a complete genetic variation map for further exploring the mechanism of MHC regional genetic polymorphism in all MHC-related complex diseases such as autoimmune diseases, infectious diseases, tumors and allergic diseases. The MHC regional genetic variation target found in this study will provide important reference data for the prediction, early diagnosis, drug efficacy and side effects observation of immune-related diseases, as well as accurate medical research for targeted therapy.
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