Association of Human Leukocyte Antigens Class II Variants with Susceptibility to Hidradenitis Suppurativa in a Caucasian Spanish Population

Abstract

Hidradenitis suppurativa (HS) is a chronic inflammatory cutaneous disease of the hair follicle typically presenting recurrent, painful, and inflamed lesions on the inverse areas of the body. Although its pathogenesis remains unknown, the immune system appears to play a potential role. To date, two previous studies have not found any association between the Human Leukocyte Antigen system (HLA) and HS. In this study we analyzed the HLA-A, -B, -C; and DRB1, -DQA1, and –DQB1 allele distribution in 106 HS patients and 262 healthy controls from a Caucasian population in Cantabria (northern Spain). HLA-A*29 and B*50 were significantly more common in HS patients and A*30 and B*37 in controls, but these associations disappeared after statistical correction. DRB1*07, DQA1*02, and DQB1*02 were significantly more common in controls (p 0.026, p 0.0012, and p 0.0005, respectively) and the HLA allele DQB1*03:01 was significantly more common in HS patients (p 0.00007) after the Bonferroni correction. The DRB1*07~DQA1*02~DQB1*02 haplotype was significantly more common in controls (p < 0.0005). This is the first study showing an association between HLA-class II and HS. Our results suggest that HLA-II alleles (DRB1*07, DQA1*02, DQB1*02, and DQB1*03:01) and the DRB1*07~DQA1*02~DQB1*02 haplotype could influence resistance or susceptibility to HS.

Pathophysiology of hidradenitis suppurativa: a systematic review of the literature

“…Apart from GSC genes, other genetic factors are also important in the pathophysiology of HS. Genes directly related to the IL-12/IL-23-Th17 pathway 18 , β-defensin genes (namely DEFB4 and DEFB103) 19 , sphingolipid metabolism pathway 20 , DNA hydroxymethylation regulators 21 , and human leukocyte antigen system (HLA) 22 , have already been associated with HS (Table 1). HS development 33 .…”

“…Ocejo-Vinyals, J.G. 22 HLA allele distribution in 106 HS patients and 262 healthy controls from a Caucasian population. A: initial events of HS: The initial pathophysiology of HS is related to alterations of the infundibular epithelium that lead to follicular "plugging" and subsequent stasis of follicular content, propagation of resident bacteria, and dilation of the hair follicle unit [3][4][5][6] .…”