Hui Fang1, Shengxian Shen1, Xiaodong Zheng2, Erle Dang1, Jieyu Zhang1, Shuai Shao1, Pei Qiao1, Qiuju Li1, Hua Wang1, Caixia Li1, Liangdan Sun2, Gang Wang3. 1. Department of Dermatology, Xijing Hospital, Fourth Military Medical University, 127 Changlexi Road, Xi'an 710032, China. 2. Department of Dermatology, No. 1 Hospital and Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, China. 3. Department of Dermatology, Xijing Hospital, Fourth Military Medical University, 127 Changlexi Road, Xi'an 710032, China. Electronic address: xjwgang@fmmu.edu.cn.
Abstract
BACKGROUND: Bullous pemphigoid (BP) is one of the most common autoimmune skin diseases. Associations of genes, especially human leukocyte antigen (HLA)-DQ alleles, with BP indicate that genetic predisposition contributes to the disease. OBJECTIVES: To evaluate the association of HLA class I and HLA class II alleles with susceptibility to BP in the northern Chinese Han population. METHODS: We performed genotype for HLA-A, -B, -C, -G, -DPA1, -DPB1, -DQA1, -DQB1 and -DRB1 loci in 105 patients with BP by Sanger sequence-based typing (SBT) method. These data were compared with a local control cohort of 420 age- and sex-matched cases. RESULTS: Among the HLA alleles described herein, the susceptibility alleles associated with a high prevalence of BP were A*11:01 (OR = 1.9 Pc = 0.017); B*37:01 (OR = 8, Pc = 1.811 × 10-6); G*01:01 (OR = 3.61, Pc = 2.839 × 10-15) and G*01:06 (OR = 2.22, Pc = 0.025); DQA1*01:05 (OR = 4.87, Pc = 5.822 × 10-5), DQA1*05:05 (OR = 2.64, Pc = 9.114 × 10-4), and DQA1*05:08 (OR = 10.2, Pc = 0.016); DQB1*03:01 (OR = 1.69, Pc = 0.048) and DQB1*05:01 (OR = 3.42, Pc = 7.28 × 10-6); and DRB1*10:01 (OR = 6.85, Pc = 2.63 × 10-6). To the contrary, HLA-DQA1*01:02 (OR = 0.46, Pc = 8.603 × 10-4) and DQA1*01:03 (OR = 0.38, Pc = 0.048); DQB1*02:02 (OR = 0.28, Pc = 0.016); and DRB1*07:01 (OR = 0.26, Pc = 0.004) had significant associations with protection against BP. In addition, the frequency of haplotype HLA-DRB1*13-DQA1*05-DQB1*03 (OR = 12.32, Pc = 0.026) in BP patients was significantly higher than those in controls. CONCLUSION: Our data demonstrated that the alleles and haplotypes found in this study may be important differential genetic markers for susceptibility to or protection against BP in individuals of northern Chinese Han population.
BACKGROUND: Bullous pemphigoid (BP) is one of the most common autoimmune skin diseases. Associations of genes, especially human leukocyte antigen (HLA)-DQ alleles, with BP indicate that genetic predisposition contributes to the disease. OBJECTIVES: To evaluate the association of HLA class I and HLA class II alleles with susceptibility to BP in the northern Chinese Han population. METHODS: We performed genotype for HLA-A, -B, -C, -G, -DPA1, -DPB1, -DQA1, -DQB1 and -DRB1 loci in 105 patients with BP by Sanger sequence-based typing (SBT) method. These data were compared with a local control cohort of 420 age- and sex-matched cases. RESULTS: Among the HLA alleles described herein, the susceptibility alleles associated with a high prevalence of BP were A*11:01 (OR = 1.9 Pc = 0.017); B*37:01 (OR = 8, Pc = 1.811 × 10-6); G*01:01 (OR = 3.61, Pc = 2.839 × 10-15) and G*01:06 (OR = 2.22, Pc = 0.025); DQA1*01:05 (OR = 4.87, Pc = 5.822 × 10-5), DQA1*05:05 (OR = 2.64, Pc = 9.114 × 10-4), and DQA1*05:08 (OR = 10.2, Pc = 0.016); DQB1*03:01 (OR = 1.69, Pc = 0.048) and DQB1*05:01 (OR = 3.42, Pc = 7.28 × 10-6); and DRB1*10:01 (OR = 6.85, Pc = 2.63 × 10-6). To the contrary, HLA-DQA1*01:02 (OR = 0.46, Pc = 8.603 × 10-4) and DQA1*01:03 (OR = 0.38, Pc = 0.048); DQB1*02:02 (OR = 0.28, Pc = 0.016); and DRB1*07:01 (OR = 0.26, Pc = 0.004) had significant associations with protection against BP. In addition, the frequency of haplotype HLA-DRB1*13-DQA1*05-DQB1*03 (OR = 12.32, Pc = 0.026) in BP patients was significantly higher than those in controls. CONCLUSION: Our data demonstrated that the alleles and haplotypes found in this study may be important differential genetic markers for susceptibility to or protection against BP in individuals of northern Chinese Han population.
Authors: Enno Schmidt; Saleh M Ibrahim; Christian Schwarm; Damian Gola; Maike M Holtsche; Anabelle Dieterich; Anita Bhandari; Miriam Freitag; Peter Nürnberg; Mohammad Toliat; Wolfgang Lieb; Michael Wittig; André Franke; Margitta Worm; Michael Sticherling; Jan Ehrchen; Claudia Günther; Regine Gläser; Wiebke K Peitsch; Miklós Sárdy; Rüdiger Eming; Michael Hertl; Sandrine Benoit; Matthias Goebeler; Claudia Pföhler; Manfred Kunz; Alexander Kreuter; Nina van Beek; Jeanette Erdmann; Hauke Busch; Detlef Zillikens; Christian D Sadik; Misa Hirose; Inke R König Journal: Orphanet J Rare Dis Date: 2021-05-19 Impact factor: 4.123