Schnuch A
Zentrale des IVDK, Univ.-Hautklinik Göttingen, Universitätsmedizin Göttingen.
Hautarzt. 2011 Oct;62(10):732-8. doi: 10.1007/s00105-011-2183-0.
The genetics of contact allergy (CA) is still only partly understood, despite decades of research. This might be due to inadequately defined phenotypes used in the past. Therefore we suggested studying an extreme phenotype, namely, polysensitization (sensitization to 3 or more unrelated allergens). Another approach to unravel the genetics of CA has been the study of candidate genes. In this review, we summarize studies on the associations between genetic variation (e.g. SNPs) in certain candidate genes and CA. The following polymorphisms and mutations were studied: (1) filaggrin, (2) N-acetyltransferase (NAT1 and 2), (3) glutathione-S-transferase (GST M and T), (4) manganese superoxide dismutase, (5) angiotensin-converting enzyme (ACE), (6) tumor necrosis factor (TNF), and (7) interleukin-16 (IL16). The polymorphisms of NAT1/2, GST M/T, ACE, TNF, and IL16 were shown to be associated with an increased risk of CA. In one of our studies, the increased risk conferred by the TNF and IL16 polymorphisms was confined to polysensitized individuals. Other relevant candidate genes may be identified by studying diseases related to CA in terms of clinical symptoms, a more general pathology (inflammation) and possibly an overlapping genetic background, such as irritant contact dermatitis.
尽管经过数十年的研究，接触性过敏（CA）的遗传学仍仅得到部分理解。这可能是由于过去使用的表型定义不充分。因此，我们建议研究一种极端表型，即多敏化（对3种或更多种不相关变应原致敏）。另一种揭示CA遗传学的方法是研究候选基因。在本综述中，我们总结了关于某些候选基因中的遗传变异（如单核苷酸多态性）与CA之间关联的研究。研究了以下多态性和突变：（1）丝聚蛋白，（2）N - 乙酰转移酶（NAT1和2），（3）谷胱甘肽 - S - 转移酶（GST M和T），（4）锰超氧化物歧化酶，（5）血管紧张素转换酶（ACE），（6）肿瘤坏死因子（TNF），以及（7）白细胞介素 - 16（IL16）。NAT1/2、GST M/T、ACE、TNF和IL16的多态性被证明与CA风险增加相关。在我们的一项研究中，TNF和IL16多态性带来的风险增加仅限于多敏化个体。通过从临床症状、更一般的病理学（炎症）以及可能重叠的遗传背景（如刺激性接触性皮炎）等方面研究与CA相关的疾病，可能会鉴定出其他相关候选基因。
