Shornick J K, Jenkins R E, Artlett C M, Briggs D C, Welsh K I, Kelly S E, Garvey M P, Black M M
St John's Institute of Dermatology, St Thomas' Hospital, London, UK.
Clin Exp Dermatol. 1995 Mar;20(2):123-6. doi: 10.1111/j.1365-2230.1995.tb02668.x.
Pemphigoid gestationis (PG) is a rare, autoimmune skin disease associated with pregnancy or the immediate post-partum period, previously shown to be associated with the HLA class II antigens DR3 and DR4. Advances in molecular analytical techniques now allow the identification of HLA alleles previously difficult to define by serological assays. Unsuspected polymorphism within the HLA-DR3 and DR4 classes can, therefore, be identified. The aim of our study was to apply these newer techniques to the question of genetic predisposition in PG by re-evaluating the association with DR3 and by studying a possible link with DQ. We have investigated by restriction fragment length polymorphism, the DQA, and by sequence specified oligonucleotide probing the DQB and DRB1 (HLA DR) specificities of 41 women with immunofluorescence-confirmed PG. The principal finding of this study is that there is an association between PG and DRB10301 (DR3) and DRB10401/040X (DR4). Although there is also an increase (P = 0.06) in the concurrent presence of both antigens, this appears to be due to the association with either antigen alone. We also found an increase in the frequency of DQA12 (P = 0.016 vs. control) and a decrease in frequency of DQB10201 (P = 0.022 vs. controls) and DQB1*0602 (P = 0.026 vs. controls).
妊娠类天疱疮(PG)是一种罕见的自身免疫性皮肤病,与妊娠或产后即刻相关,此前已证明与人类白细胞抗原(HLA)Ⅱ类抗原DR3和DR4相关。分子分析技术的进展现在使得能够鉴定以前通过血清学检测难以定义的HLA等位基因。因此,可以识别出HLA-DR3和DR4类中未被怀疑的多态性。我们研究的目的是通过重新评估与DR3的关联以及研究与DQA的可能联系,将这些新技术应用于PG的遗传易感性问题。我们通过限制性片段长度多态性研究了41名经免疫荧光确诊为PG的女性的DQA,并通过序列特异性寡核苷酸探针研究了DQB和DRB1(HLA DR)特异性。本研究的主要发现是PG与DRB10301(DR3)和DRB10401/040X(DR4)之间存在关联。虽然两种抗原同时存在的情况也有所增加(P = 0.06),但这似乎是由于与单独任何一种抗原的关联所致。我们还发现DQA12的频率增加(与对照组相比,P = 0.016),而DQB10201(与对照组相比,P = 0.022)和DQB1*0602(与对照组相比,P = 0.026)的频率降低。