Rios Raimon, Magalhães da Silva Thiago, Strina Agostino, Forno Erick, Costa Ryan, Celedón Juan C, Barreto Maurício L, Figueiredo Camila Alexandrina
Laboratory of Immunopharmacology and Molecular Biology, IMUNOBIO, Institute of Health Sciences, Federal University of Bahia, Salvador, Brazil.
Biological Sciences Department, State University of Southwestern Bahia, Jequié, Bahia, Brazil.
Heliyon. 2023 Feb 10;9(2):e13659. doi: 10.1016/j.heliyon.2023.e13659. eCollection 2023 Feb.
Genetic variants in filaggrin () are key in eczema and are less common in Africans than in Europeans and Asians. Here we examined the association between Single Nucleotide Polymorphisms (SNPs) and eczema in a population of admixed Brazilian children and whether African ancestry modifies this association. We included 1010 controls and 137 cases and ran logistic regressions between SNPs in and eczema in the studied population and also stratified the analyses according to the degree of African ancestry. In addition, we tested the replication of the findings on an independent set of individuals, as well as, we verified the impact on expression according to each SNP genotype. The T allele of SNP rs6587666 was negatively associated with eczema in additive model (: 0.66, 95% CI: 0.47-0.93, : 0.017). Moreover, African ancestry modifies the association between rs6587666 and eczema. The effect of the T allele was higher among individuals with higher African ancestry and the association with eczema was lost in individuals with lower African ancestry. In our analyses the expression of in skin was slightly downregulated by the presence of the T allele of rs6587666. In our population, the T allele of rs6587666 in was associated with protection to eczema and the degree of African ancestry was able to modify the observed association.
丝聚合蛋白(filaggrin)中的基因变异是引发湿疹的关键因素,在非洲人中比在欧洲人和亚洲人中更为少见。在此,我们研究了巴西混血儿童群体中丝聚合蛋白单核苷酸多态性(SNPs)与湿疹之间的关联,以及非洲血统是否会改变这种关联。我们纳入了1010名对照和137例病例,对研究人群中丝聚合蛋白的SNPs与湿疹进行了逻辑回归分析,并根据非洲血统程度进行分层分析。此外,我们在另一组独立个体中验证了研究结果的可重复性,还根据每个SNP基因型检验了其对丝聚合蛋白表达的影响。在加性模型中,SNP rs6587666的T等位基因与湿疹呈负相关(比值比:0.66,95%置信区间:0.47 - 0.93,P值:0.017)。此外,非洲血统改变了rs6587666与湿疹之间的关联。在非洲血统较高的个体中,T等位基因的影响更大,而在非洲血统较低的个体中,与湿疹的关联消失。在我们的分析中,rs6587666的T等位基因的存在使皮肤中丝聚合蛋白的表达略有下调。在我们的人群中,丝聚合蛋白中rs6587666的T等位基因与预防湿疹有关,非洲血统程度能够改变所观察到的这种关联。