Department of Biomedicine and Prevention, Tor Vergata University, via Montpellier 1, 00133, Rome, Italy.
Laboratory of Genomics Medicine UILDM, Santa Lucia Foundation, via Ardeatina 354, 00142, Rome, Italy.
Biomed Res Int. 2019 Jun 4;2019:3457898. doi: 10.1155/2019/3457898. eCollection 2019.
To date, the genes associated with susceptibility to Atopic Eczema (AE) are mainly implicated in immunity, inflammation, and maintenance of skin barrier. Little is known about the possible relationship between genes modulating Extra-Cellular Matrix (ECM) and AE etiopathogenesis. In this regard, the primary objective of the present study has been the investigation of susceptibility biomarkers localized within genes encoding collagen proteins. Several studies have shown that polymorphisms within the genes encoding such proteins may generate abnormal connective tissues, making them more susceptible to mechanical stress, loss of epidermal integrity, and aging. We therefore decided to investigate three polymorphisms located in , and as potential susceptibility biomarkers for AE in a cohort of 1470 subjects of Mediterranean origin. The genes of interest have been selected considering that the ECM and immune/inflammatory response are strongly dysregulated in AE and other complex disorders. The study confirmed that the susceptibility to AE depends on a complex interaction between latitude, geographical localization, and the differential distribution of genetic variants among populations exposed to similar environmental factors.
迄今为止,与特应性皮炎(AE)易感性相关的基因主要与免疫、炎症和皮肤屏障维持有关。关于调节细胞外基质(ECM)的基因与 AE 发病机制之间可能存在的关系,人们知之甚少。在这方面,本研究的主要目的是调查编码胶原蛋白的基因内定位的易感性生物标志物。多项研究表明,编码这些蛋白质的基因中的多态性可能会产生异常的结缔组织,使它们更容易受到机械应力、表皮完整性丧失和衰老的影响。因此,我们决定在一个 1470 名地中海起源的受试者队列中,研究位于 和 中的三个多态性,作为 AE 的潜在易感性生物标志物。选择感兴趣的基因是因为 ECM 和免疫/炎症反应在 AE 和其他复杂疾病中被强烈失调。该研究证实,AE 的易感性取决于纬度、地理位置以及暴露于相似环境因素的人群中遗传变异的差异分布之间的复杂相互作用。