Our understanding of the specific genetic lesions in allergy has improved in recent years due to identification of common risk variants from genome-wide association studies (GWAS) and studies of rare, monogenic diseases. Large-scale GWAS have identified novel susceptibility loci and provided information about shared genetics between allergy, related phenotypes and autoimmunity. Studies of monogenic diseases have elucidated critical cellular pathways and protein functions responsible for allergy. These complementary approaches imply genetic mechanisms involved in Th2 immunity, T-cell differentiation, TGFβ signaling, regulatory T-cell function and skin/mucosal function as well as yet unknown mechanisms associated with newly identified genes. Future studies, in combination with data on gene expression and epigenetics, are expected to increase our understanding of the pathogenesis of allergy.

中文翻译：

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过敏和过敏性致敏的遗传学：常见变体，罕见突变。

近年来，由于从全基因组关联研究（GWAS）和罕见的单基因疾病研究中发现了常见的风险变体，我们对变态反应中特定遗传病灶的了解有所提高。大型GWAS已鉴定出新的易感基因座，并提供了有关过敏，相关表型和自身免疫之间共享遗传学的信息。对单基因疾病的研究阐明了导致过敏的关键细胞途径和蛋白质功能。这些互补的方法暗示了涉及Th2免疫，T细胞分化，TGFβ信号传导，调节性T细胞功能和皮肤/粘膜功能的遗传机制，以及与新近鉴定的基因相关的未知机制。未来的研究结合基因表达和表观遗传学的数据，