Jackow C, Puffer N, Hordinsky M, Nelson J, Tarrand J, Duvic M
Department of Dermatology, University of Texas Medical School, Houston, USA.
J Am Acad Dermatol. 1998 Mar;38(3):418-25. doi: 10.1016/s0190-9622(98)70499-2.
Alopecia areata (AA) is hypothesized to be an organ-specific autoimmune disease mediated by T cells directed to the hair follicle. Genetic susceptibility may be conferred by HLA, and an environmental trigger, such as a viral infection, is suspected. The incidence of AA in the population is estimated to be 1.7%, with an average of one in four patients having a positive family history.
Our purpose was to examine the concordance rate of AA among identical versus fraternal twins and the correlation between stress, cytomegalovirus (CMV) infection, and disease.
Families with AA were solicited from dermatologists in the United States and through a Website on the Internet. HLA class 2 typing and identification of CMV early and late genes were performed by polymerase chain reaction (PCR) on genomic peripheral blood DNA. Serum antibodies for CMV were determined by enzyme-linked immunosorbent assay.
From 114 families, we identified 11 sets of monozygotic twins and 3 sets of dizygotic twins. The concordance rate was 55% for monozygotic twins and 0% for fraternal twins. Most identical twins were male. The severity of the AA phenotype varied and appeared most severe in the first affected twin. Five of 24 twins were CMV seropositive but CMV DNA was not detected in blood lymphocytes of any of the subjects when studied after the onset of AA. The presence of AA in twins was not correlated with evidence of CMV.
A 55% concordance rate in identical twins and AA occurring in families support a genetic component as well as possible environmental triggers that remain unknown.
斑秃(AA)被认为是一种由针对毛囊的T细胞介导的器官特异性自身免疫性疾病。遗传易感性可能由人类白细胞抗原(HLA)赋予,并且怀疑存在环境触发因素,如病毒感染。据估计,人群中斑秃的发病率为1.7%,平均每四名患者中有一人有阳性家族史。
我们的目的是研究同卵双胞胎与异卵双胞胎中斑秃的一致率,以及压力、巨细胞病毒(CMV)感染与疾病之间的相关性。
通过在美国皮肤科医生处以及互联网上的一个网站征集患有斑秃的家庭。采用聚合酶链反应(PCR)对基因组外周血DNA进行HLA Ⅱ类分型以及CMV早期和晚期基因的鉴定。通过酶联免疫吸附测定法测定CMV的血清抗体。
从114个家庭中,我们鉴定出11对同卵双胞胎和3对异卵双胞胎。同卵双胞胎的一致率为55%,异卵双胞胎的一致率为0%。大多数同卵双胞胎为男性。斑秃表型的严重程度各不相同,且在首个患病的双胞胎中似乎最为严重。24对双胞胎中有5对CMV血清学检测呈阳性,但在斑秃发病后进行研究时,任何受试者的血液淋巴细胞中均未检测到CMV DNA。双胞胎中斑秃的存在与CMV证据无关。
同卵双胞胎55%的一致率以及家族中出现的斑秃支持了遗传因素以及可能仍然未知的环境触发因素的存在。