Frontiers in Genetics (Dec 2021)
Fine-Mapping of the Major Histocompatibility Complex Region Linked to Leprosy in Northern China
- Ruixue Zhang,
- Ruixue Zhang,
- Ruixue Zhang,
- Ruixue Zhang,
- Ruixue Zhang,
- Lu Cao,
- Lu Cao,
- Lu Cao,
- Lu Cao,
- Lu Cao,
- Weiwei Chen,
- Weiwei Chen,
- Weiwei Chen,
- Weiwei Chen,
- Weiwei Chen,
- Huiyao Ge,
- Huiyao Ge,
- Huiyao Ge,
- Huiyao Ge,
- Huiyao Ge,
- Xia Hu,
- Xia Hu,
- Xia Hu,
- Xia Hu,
- Xia Hu,
- Zhuo Li,
- Zhuo Li,
- Zhuo Li,
- Zhuo Li,
- Zhuo Li,
- Yirui Wang,
- Yirui Wang,
- Yirui Wang,
- Yirui Wang,
- Yirui Wang,
- Wencheng Fan,
- Wencheng Fan,
- Wencheng Fan,
- Wencheng Fan,
- Wencheng Fan,
- Liang Yong,
- Liang Yong,
- Liang Yong,
- Liang Yong,
- Liang Yong,
- Yafen Yu,
- Yafen Yu,
- Yafen Yu,
- Yafen Yu,
- Yafen Yu,
- Yiwen Mao,
- Yiwen Mao,
- Yiwen Mao,
- Yiwen Mao,
- Yiwen Mao,
- Qi Zhen,
- Qi Zhen,
- Qi Zhen,
- Qi Zhen,
- Qi Zhen,
- Hong Liu,
- Furen Zhang,
- Liangdan Sun,
- Liangdan Sun,
- Liangdan Sun,
- Liangdan Sun,
- Liangdan Sun
Affiliations
- Ruixue Zhang
- Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, China
- Ruixue Zhang
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Ruixue Zhang
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Ruixue Zhang
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Ruixue Zhang
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- Lu Cao
- Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, China
- Lu Cao
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Lu Cao
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Lu Cao
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Lu Cao
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- Weiwei Chen
- Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, China
- Weiwei Chen
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Weiwei Chen
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Weiwei Chen
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Weiwei Chen
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- Huiyao Ge
- Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, China
- Huiyao Ge
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Huiyao Ge
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Huiyao Ge
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Huiyao Ge
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- Xia Hu
- Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, China
- Xia Hu
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Xia Hu
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Xia Hu
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Xia Hu
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- Zhuo Li
- Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, China
- Zhuo Li
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Zhuo Li
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Zhuo Li
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Zhuo Li
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- Yirui Wang
- Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, China
- Yirui Wang
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Yirui Wang
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Yirui Wang
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Yirui Wang
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- Wencheng Fan
- Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, China
- Wencheng Fan
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Wencheng Fan
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Wencheng Fan
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Wencheng Fan
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- Liang Yong
- Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, China
- Liang Yong
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Liang Yong
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Liang Yong
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Liang Yong
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- Yafen Yu
- Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, China
- Yafen Yu
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Yafen Yu
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Yafen Yu
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Yafen Yu
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- Yiwen Mao
- Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, China
- Yiwen Mao
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Yiwen Mao
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Yiwen Mao
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Yiwen Mao
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- Qi Zhen
- Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, China
- Qi Zhen
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Qi Zhen
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Qi Zhen
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Qi Zhen
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- Hong Liu
- Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, China
- Furen Zhang
- Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, China
- Liangdan Sun
- Department of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, China
- Liangdan Sun
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Liangdan Sun
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Liangdan Sun
- Anhui Provincial Institute of Translational Medicine, Hefei, China
- Liangdan Sun
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- DOI
- https://doi.org/10.3389/fgene.2021.768259
- Journal volume & issue
-
Vol. 12
Abstract
Background: Leprosy is a chronic infectious skin and neurological disease, and genetic background is considered to be one of the major factors of risk. The major histocompatibility complex (MHC) region not only affects susceptibility to leprosy but also its development and outcome. Given the complex traits of the MHC region, variants and the potential mechanism by which HLA influences leprosy development need to be further explored.Methods: We extracted previous genome-wide association study data from the Northern Han Chinese population to perform HLA fine-mapping. Using the 1,000 Genome Project Phase 3 dataset as the reference panel, single-nucleotide polymorphisms (SNP), insertion and deletion (INDEL) and copy number variant (CNV) imputation were carried out. HLA classical alleles and amino acids in the MHC region were imputed using the HAN-MHC database. Further stepwise regression analysis was conducted to analyze independent signals of variants related to leprosy.Results: We identified four independent variants: esv3608598, rs7754498, rs3130781 and rs144388449. Among them, esv3608598 is a CNV and the first HLA CNV associated with leprosy risk. SNP annotation using RegulomeDB, HaploReg, and rVarBase showed that three SNPs are likely to affect the pathogenesis of leprosy.Conclusion: In summary, this is the first study to assess the association between HLA CNV and leprosy susceptibility in a Northern Han Chinese population. By fine mapping of the MHC region in this population, our findings provide evidence for the contribution of HLA to leprosy susceptibility.
Keywords
