Niepiekło-Miniewska Wanda, Matusiak Łukasz, Narbutt Joanna, Lesiak Alekandra, Kuna Piotr, Wiśniewski Andrzej, Kuśnierczyk Piotr
Laboratory of Immunogenetics and Tissue Immunology, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, ul. Rudolfa Weigla 12, 53-114 Wrocław, Poland.
Department of Dermatology, Venereology and Allergology, Medical University of Wroclaw, 50-368 Wrocław, Poland.
Life (Basel). 2021 Apr 10;11(4):333. doi: 10.3390/life11040333.
Atopic dermatitis (AD) is a chronic and recurrent inflammatory dermatosis. We recently described an association of the allele of the single nucleotide polymorphism (SNP) in the gene and a synergism of ERAP1 and ERAP2 effects on AD risk. Here, we examined whether polymorphisms of other antigen-presenting machinery genes encoding immunoproteasome components LMP2 and LMP7 and peptide transporter components TAP1 and TAP2 may also affect susceptibility to AD or its outcome. We found that the allele decreased disease risk by about 1.5-fold (odds ratio 0.66, 95% confidence interval 0.44-0.99). On the other hand, the allele reduced the mean age at diagnosis from 23 to 15 years ( < 0.001). Similarly, the allele decreased the mean age at diagnosis from almost 20 to 14 years ( = 0.033). The results are discussed in light of other reports on the role of these polymorphisms in human disease.
特应性皮炎(AD)是一种慢性复发性炎症性皮肤病。我们最近描述了基因中单个核苷酸多态性(SNP)的等位基因与内质网氨肽酶1(ERAP1)和内质网氨肽酶2(ERAP2)对AD风险的协同作用之间的关联。在此,我们研究了编码免疫蛋白酶体成分低分子量多肽2(LMP2)和低分子量多肽7(LMP7)以及肽转运体成分抗原加工相关转运体1(TAP1)和抗原加工相关转运体2(TAP2)的其他抗原呈递机制基因的多态性是否也可能影响AD易感性或其病情转归。我们发现等位基因使疾病风险降低了约1.5倍(优势比0.66,95%置信区间0.44 - 0.99)。另一方面,等位基因使诊断时的平均年龄从23岁降至15岁(P < 0.001)。同样,等位基因使诊断时的平均年龄从近20岁降至14岁(P = 0.033)。结合关于这些多态性在人类疾病中作用的其他报道对结果进行了讨论。