HLA‐DRB1*04:02, DRB1*08:04 and DRB1*14 alleles associated to pemphigus vulgaris in southeastern Brazilian population

Study of the association between human leukocyte antigens (HLA) and pemphigus vulgaris in Brazilian patients

“…4,5 Different populations, from different global regions, have reported PV incidence varying between 0.08 and 2.72 cases per 100 000 per year. 10,13,14 There is a consensus that the disease is multifactorial and that there is a linkage between PV and the alleles HLA-DRB1*04:02 and DQB1*05:03, but there is also a gap in understanding how the environment and genetics may alter gene expression, triggering the disease, as the vast majority of individuals who carry these alleles do not develop the disease. 9 The theory that PV is inherited had been initially suggested by the unique susceptibility of some ethnic groups and populations such as Ashkenazi Jewish and people from India and the Mediterranean.…”

“…9 The theory that PV is inherited had been initially suggested by the unique susceptibility of some ethnic groups and populations such as Ashkenazi Jewish and people from India and the Mediterranean. 16 The association between HLA class II alleles and PV has been shown in many different ethnic groups, such as Brazilians, 13 Venezuelans, 3 Argentinians, 17 Spanish, 18 French, 19 Iranians, 20 Italians and Sardinians, [21][22][23] Japanese, [24][25][26][27] Ashkenazi Jews, 28 Mexicans, 29 North-Americans, [30][31][32] Pakistanis, 33 Syrians, 10 Middle-Eastern groups, 16 Slovacs, 34 and Canadians, 35 associating nine DR alleles DRB1*0402, *0403, *0406, *0802, *0804, *1401, *1404, *1405, *1408 and four DQ alleles DQB1*0302, DQB1*0503, DQA1*0101, and DQA1*0301 with the disease. 11,12 The association between PV and human leukocyte antigen (HLA) was shown in the 1980s and has repeatedly been proven through laboratory and serologic tests.…”

Estudo da associação entre antígenos de histocompatibilidade leucocitária e penfigoide bolhoso em pacientes brasileiros

“…Os genes individuais são diferenciados por algarismos arábicos, e as variantes alélicas desses genes são representadas pelo número precedido por um asterisco. Por exemplo, HLA-DQB1*0301 se refere à variante alélica 0301 do gene 1, o qual codifica a cadeia  de uma molécula classe II pertencente à família Q [70] .…”

“…O sistema HLA é objeto de estudo para identificar os alelos envolvidos na patogênese de diversas doenças, tais como estomatite aftoide recorrente, líquen plano, pênfigo vulgar, penfigoides e seus subtipos [71][72][73] .…”

“…Foram incluídos no estudo os pacientes diagnosticados de acordo com os critérios seguintes: [73] . Dessa forma, caso estivesse fora do intervalo citado, esse material era descartado, uma nova amostra colhida e feita nova extração de DNA.…”