Increased frequency of Ig heavy-chain HS1,2-A enhancer*2 allele in dermatitis herpetiformis, plaque psoriasis, and psoriatic arthritis
Increased frequency of Ig heavy-chain HS1,2-A enhancer*2 allele in dermatitis herpetiformis, plaque psoriasis, and psoriatic arthritis
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DOI：
10.1038/jid.2008.40
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发表时间：
2008-08-01
影响因子：
6.5
通讯作者：
Frezza, Domenico
中科院分区：
文献类型：
--
作者：
Cianci, Rossella;Giambra, Vincenzo;Frezza, Domenico
增强子DNA酶高敏区1，2(HS1，2)是免疫球蛋白重链3‘调控区(TRR)簇的成员，在转报告基因的人B细胞中是活跃的，在小鼠中是在成熟后期被激活的。HS1，2-A含有几种转录因子的结合位点。已知有4个等位基因，即*1、*2、*3和*4，它们在转录因子结合中的长度不同。我们发现，在乳糜泻中，*2等位基因的频率增加。疱疹样皮炎和银屑病与乳糜泻的发生频率不同。因此，我们进一步研究了等位基因*2在银屑病、斑块型银屑病和银屑病关节炎患者中的频率。对同一地区37例寻常型银屑病患者、61例斑块型银屑病患者、28例银屑病关节炎患者和265例健康献血员的HS1，2-A等位基因频率进行了研究。*2等位基因频率在对照组为0.39，对照组为0.63，斑块型银屑病为0.59，银屑病关节炎组为0.75(P=10(-4)~10(-5))。我们的数据表明，在这些皮肤免疫相关疾病中，HS1，2-A*2等位基因的频率增加。我们认为在这些发病机制中有相关的遗传易感性。
The enhancer DNase-hypersensitive region 1,2 (HS1,2), a member of the Ig heavy-chain 3' regulatory region (TRR) cluster, is active in human B cells transfected with reporter genes and in mouse is activated in late maturation. HS1,2-A contains binding sites for several transcription factors. There are four known alleles, that is, *1, *2, *3, and *4, which differ in their lengths in transcription factor binding. We showed that in celiac disease the frequency of the *2 allele is increased. Both dermatitis herpetiformis (DH) and psoriasis can be associated with different frequencies with celiac disease. Thus, we further investigate the frequency of allele *2 in DH, plaque psoriatic, and psoriatic arthritis patients. HS1,2-A allele frequencies were investigated in 37 DH, 61 plaque psoriatic, 28 psoriatic arthritis patients, and 265 healthy donors, age- and sex-matched, from the same geographical area. The frequency of the *2 allele changes from 0.39 in controls to 0.63 in DH, 0.59 in plaque psoriasis and 0.75 in psoriatic arthritis (P between 10(-4)-10(-5)). Our data evidence an increased frequency of the *2 allele of HS1,2-A in these cutaneous immune-related disorders. We suggest a related genetic predisposition in these pathogeneses.