新一期英国《自然·遗传学》杂志刊登研究报告说，多国研究人员新发现3个与湿疹有关的基因，这项迄今最大规模的湿疹基因调查，有助于深入研究其原理和研发诊疗方法。
英国、美国、澳大利亚等国研究人员调查了约1万名湿疹患者的基因数据，并与其他4万人的基因进行了对比，最终发现了3个与湿疹相关的基因。其中，代号为OVOL1和ACTL9的基因与皮肤自身功能有关，代号为IL4-KIF3A的基因与人体免疫系统功能有关。
英国布里斯托尔大学的研究人员拉维妮娅·帕特诺斯特说，本次研究表明，湿疹的病因存在于皮肤和免疫系统两个方面，这将有助于研发新的诊断和治疗方法。
湿疹是一种会导致皮肤起红斑甚至糜烂的常见皮肤病，多发于儿童，部分人成年也会反复发作。它与遗传有很大关系，据统计，如果父母一方曾患湿疹，则孩子患湿疹的比例达60%；如果父母双方都曾患湿疹，则孩子患病比例会达80%。因此，在基因层面上进行分析对于研究这种疾病非常重要。
Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis
Lavinia Paternoster, Marie Standl, Chih-Mei Chen, Adaikalavan Ramasamy, Klaus Bønnelykke, Liesbeth Duijts, Manuel A Ferreira, Alexessander Couto Alves, Jacob P Thyssen, Eva Albrecht, Hansjörg Baurecht, Bjarke Feenstra, Patrick M A Sleiman, Pirro Hysi, Nicole M Warrington, Ivan Curjuric, Ronny Myhre, John A Curtin, Maria M Groen-Blokhuis, Marjan Kerkhof, Annika Sääf, Andre Franke, David Ellinghaus, Regina Fölster-Holst, Emmanouil Dermitzakis
Atopic dermatitis (AD) is a commonly occurring chronic skin disease with high heritability. Apart from filaggrin (FLG), the genes influencing atopic dermatitis are largely unknown. We conducted a genome-wide association meta-analysis of 5,606 affected individuals and 20,565 controls from 16 population-based cohorts and then examined the ten most strongly associated new susceptibility loci in an additional 5,419 affected individuals and 19,833 controls from 14 studies. Three SNPs reached genome-wide significance in the discovery and replication cohorts combined, including rs479844 upstream of OVOL1 (odds ratio (OR) = 0.88, P = 1.1 × 10−13) and rs2164983 near ACTL9 (OR = 1.16, P = 7.1 × 10−9), both of which are near genes that have been implicated in epidermal proliferation and differentiation, as well as rs2897442 in KIF3A within the cytokine cluster at 5q31.1 (OR = 1.11, P = 3.8 × 10−8). We also replicated association with the FLG locus and with two recently identified association signals at 11q13.5 (rs7927894; P = 0.008) and 20q13.33 (rs6010620; P = 0.002). Our results underline the importance of both epidermal barrier function and immune dysregulation in atopic dermatitis pathogenesis.
文献链接：https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.1017.html
