Kowalczyk Michał J, Dańczak-Pazdrowska Aleksandra, Szramka-Pawlak Beata, Żaba Ryszard, Osmola-Mańkowska Agnieszka, Silny Wojciech
Department of Dermatology and Venereology, Poznan University of Medical Sciences, Poznan, Poland.
Unit of Noninvasive Diagnostics of Skin Diseases, Department of Dermatology, Poznan University of Medical Sciences, Poznan, Poland.
Postepy Dermatol Alergol. 2017 Feb;34(1):47-51. doi: 10.5114/ada.2017.65621. Epub 2017 Feb 7.
Morphea (localized scleroderma) is a relatively rare disease characterized by excessive skin fibrosis. Human endogenous retroviruses (HERV) are largely distributed within the human genome with hundreds of thousands of elements. The HERV have been widely studied in autoimmune disorders, yet hardly ever assessed in diseases with a good prognosis such as morphea.
In this study we focus on the possible relations between the expression of chosen HERV and factors influencing the pathomechanism of the disease, such as age, sex, titres of anti-nuclear antibodies, as well as duration, activity, and severity of the disease (LoSSI index).
Real-time polymerase chain reaction (PCR) targeting six HERV sequences of interest were performed on samples derived from peripheral blood mononuclear cells (PBMC) and skin biopsies.
In PBMC we found a statistically significant negative correlation between HERV-W env expression and LoSSI index ( = 0.01). Additionally, HERV-W env was downregulated in patients with the active form of morphea. In all other cases we found no correlation whatsoever nor statistically significant differences below the = 0.05 threshold.
Morphea seems to be an autoimmune disease where the impact of HERV is not so apparent. It seems that probing many patients for the expression of just a few sequences is not as effective as previously expected. For initial studies of HERV in other diseases we recommend high throughput techniques such as HERV-dedicated DNA microarrays or massive parallel sequencing.
硬斑病（局限性硬皮病）是一种相对罕见的以皮肤过度纤维化为特征的疾病。人类内源性逆转录病毒（HERV）广泛分布于人类基因组中，有成千上万种元件。HERV已在自身免疫性疾病中得到广泛研究，但在硬斑病等预后良好的疾病中几乎从未被评估过。
在本研究中，我们关注所选HERV的表达与影响疾病发病机制的因素之间的可能关系，如年龄、性别、抗核抗体滴度以及疾病的持续时间、活动度和严重程度（LoSSI指数）。
对来自外周血单个核细胞（PBMC）和皮肤活检样本进行靶向六个感兴趣的HERV序列的实时聚合酶链反应（PCR）。
在PBMC中，我们发现HERV-W env表达与LoSSI指数之间存在统计学上显著的负相关（=0.01）。此外，HERV-W env在硬斑病活动型患者中表达下调。在所有其他情况下，我们未发现任何相关性，且在=0.05阈值以下也无统计学上的显著差异。
硬斑病似乎是一种自身免疫性疾病，其中HERV的影响并不明显。似乎对许多患者检测仅少数序列的表达并不像先前预期的那样有效。对于HERV在其他疾病中的初步研究，我们推荐使用高通量技术，如HERV专用DNA微阵列或大规模平行测序。
