Genetic variability of immune-related lncRNAs: polymorphisms in LINC-PINT and LY86-AS1 are associated with pemphigus foliaceus susceptibility

Amanda Salviano-Silva, Ticiana Della Justina Farias, Valéria Bumiller-Bini, Mariana de Sousa Castro, Sara Cristina Lobo-Alves, Hauke Busch, Claudia Pföhler, Margitta Worm, Matthias Goebeler, Nina van Beek, Andre Franke, Michael Wittig, Detlef Zillikens, Rodrigo Coutinho de Almeida, Jennifer Elisabeth Hundt, Angelica Beate Winter Boldt, Saleh Ibrahim, Danillo Gardenal Augusto, Maria Luiza Petzl-Erler, Enno SchmidtDanielle Malheiros*

*Corresponding author for this work
1 Citation (Scopus)


Pemphigus foliaceus (PF) is an autoimmune blistering disease of the skin, clinically characterized by erosions and, histopathologically, by acantholysis. PF is endemic in the Brazilian Central-Western region. Numerous single nucleotide polymorphisms (SNPs) have been shown to affect the susceptibility for PF, including SNPs at long non-coding RNA (lncRNA) genes, which are known to participate in many physiological and pathogenic processes, such as autoimmunity. Here, we investigated whether the genetic variation of immune-related lncRNA genes affects the risk for endemic and sporadic forms of PF. We analysed 692 novel SNPs for PF from 135 immune-related lncRNA genes in 227 endemic PF patients and 194 controls. The SNPs were genotyped by Illumina microarray and analysed by applying logistic regression at additive model, with correction for sex and population structure. Six associated SNPs were also evaluated in an independent German cohort of 76 sporadic PF patients and 150 controls. Further, we measured the expression levels of two associated lncRNA genes (LINC-PINT and LY86-AS1) by quantitative PCR, stratified by genotypes, in peripheral blood mononuclear cells of healthy subjects. We found 27 SNPs in 11 lncRNA genes associated with endemic PF (p <.05 without overlapping with protein-coding genes). Among them, the LINC-PINT SNP rs10228040*A (OR = 1.47, p =.012) was also associated with increased susceptibility for sporadic PF (OR = 2.28, p =.002). Moreover, the A+ carriers of LY86-AS1*rs12192707 mark lowest LY86-AS1 RNA levels, which might be associated with a decreasing autoimmune response. Our results suggest a critical role of lncRNA variants in immunopathogenesis of both PF endemic and sporadic forms.

Original languageEnglish
JournalExperimental Dermatology
Issue number6
Pages (from-to)831-840
Number of pages10
Publication statusPublished - 06.2021

Research Areas and Centers

  • Academic Focus: Center for Infection and Inflammation Research (ZIEL)


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