Sporadic pemphigus foliaceus and class II human leucocyte antigen allele associations in the white British and Indo-Asian populations in the UK

Abstract

Summary Background Pemphigus foliaceus (PF) has both genetic and environmental susceptibility factors. Current data on human leucocyte antigen (HLA) in patients with sporadic PF are limited. Aim To better define the distribution of HLA alleles in patients with PF in the UK. Methods We recruited 36 patients [26 of white British (WB) descent, 10 of Indo‐Asian (IA) descent] with PF who were living in the UK and 159 ethnically matched normal controls, and analysed their class II HLA DRB1 and DQB1 allele distribution. Results There was an increased frequency of DRB1*1404 in association with DQB1*0503 in IA patients with PF. The DRB1*04 allele group as a whole had an increased frequency (P < 0.001) in the WB patient group compared with controls. The alleles contributing to this significance were DRB1*0401 (P = 0.03) and DRB1*0404 (P < 0.01). Conclusion This is the largest HLA association study in sporadic PF from the UK to date. There appears to be a difference in PF susceptibility alleles between WB and IA patients, highlighting the importance of racial variation in genetic susceptibility to disease development.

HLA-DRB1 and DQB1 genetic susceptibility to pemphigus vulgaris and pemphigus foliaceus in Vietnamese patients

“… 20 HLA class II antigens are typically expressed on the surface of active T cells, which are believed to play a major role in T cell activation and antigen recognition. 21 Importantly, studies have highlighted the importance of racial variation in the genetic susceptibility to pemphigus, 12 indicating the need for profiling and investigation of the genetic factors of the disease among different ethnic groups and populations. However, few studies have examined pemphigus patients living in Southeast Asia.…”

“…In the Vietnamese Kinh general population, the characteristics of HLA class II alleles and haplotypes were more closely associated with Southeast Asians (Thai, Malaysians, and Indonesians) than with East Asians (Han Chinese, Japanese, and South Koreans) [18]. However, except for the study by Saha et al that investigated Indo-Asian patients living in the UK [12], little is known about the associations of HLA-DRB1 or DQB1 with PF and PV in Southeast Asians and Vietnamese. Therefore, this study investigated the PV and PF susceptibility of HLA class II DRB1 and DQB1 alleles in Vietnamese patients.…”

“…In the UK, Saha et al suggested that DQB1*02 is a protective Accepted paper allele for PV [11]. Interestingly, Saha et al found differences in the PF susceptibility alleles between white British and Indo-Asian patients, highlighting the important role of racial variation in the genetic susceptibility to disease development [12]. Studies in Brazil have reported several PF susceptibility alleles, including HLA-DRB1*01:01, DRB1*01:02, DRB1*01:03, DRB1*04:04, DRB1*04:06, DRB1*04:10, DRB1*14:06, and DRB1*16:01 [13,14], as well as the PV-associated alleles HLA-DRB1*04:02, DRB1*08:04, and the DRB1*14 group [15].…”

“…found differences in the PF susceptibility alleles between white British and Indo-Asian patients, highlighting the important role of racial variation in the genetic susceptibility to disease development. 12 Studies in Brazil have reported several PF susceptibility alleles, including HLADRB1 *01:01, DRB1*01:02, DRB1*01:03, DRB1*04:04, DRB1*04:06, DRB1*04:10, DRB1*14:06, and DRB1*16:01, 13 , 14 as well as the PV-associated alleles HLADRB1 *04:02, DRB1*08:04, and the DRB1*14 group. 15 A Korean study discovered significant associations of PV with DRB1*01 and of PF with DRB1*01, DQA1*03:02, and DQB1*06:03.…”

“… 18 However, except for the study by Saha et al . that investigated Indo- Asian patients living in the UK, 12 little is known about the associations of HLADRB1 or DQB1 with PF and PV in Southeast Asians and Vietnamese. Therefore, this study investigated the PV and PF susceptibility of HLA class II DRB1 and DQB1 alleles in Vietnamese patients.…”