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PF is endemic in the Brazilian Central\u2010Western region. Numerous single nucleotide polymorphisms (SNPs) have been shown to affect the susceptibility for PF, including SNPs at long non\u2010coding 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\u2010related lncRNA genes affects the risk for endemic and sporadic forms of PF. We analysed 692 novel SNPs for PF from 135 immune\u2010related 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 (<jats:italic>LINC\u2010PINT<\/jats:italic> and <jats:italic>LY86\u2010AS1<\/jats:italic>) 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 (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a0.05 without overlapping with protein\u2010coding genes). Among them, the <jats:italic>LINC\u2010PINT<\/jats:italic> SNP <jats:italic>rs10228040*A<\/jats:italic> (OR\u00a0=\u00a01.47, <jats:italic>p<\/jats:italic>\u00a0=\u00a0.012) was also associated with increased susceptibility for sporadic PF (OR\u00a0=\u00a02.28, <jats:italic>p<\/jats:italic>\u00a0=\u00a0.002). Moreover, the <jats:italic>A<\/jats:italic>+ carriers of <jats:italic>LY86\u2010AS1*rs12192707<\/jats:italic> mark lowest LY86\u2010AS1 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.<\/jats:p>","DOI":"10.1111\/exd.14275","type":"journal-article","created":{"date-parts":[[2021,1,4]],"date-time":"2021-01-04T18:58:58Z","timestamp":1609786738000},"page":"831-840","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Genetic variability of immune\u2010related lncRNAs: polymorphisms in <i>LINC\u2010PINT<\/i> and <i>LY86\u2010AS1<\/i> are associated with pemphigus foliaceus susceptibility"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2741-7028","authenticated-orcid":false,"given":"Amanda","family":"Salviano\u2010Silva","sequence":"first","affiliation":[{"name":"Postgraduate Program in Genetics Department of Genetics Federal University of Paran\u00e1 Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3606-2428","authenticated-orcid":false,"given":"Ticiana Della Justina","family":"Farias","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics Department of Genetics Federal University of Paran\u00e1 Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4000-2417","authenticated-orcid":false,"given":"Val\u00e9ria","family":"Bumiller\u2010Bini","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics Department of Genetics Federal University of Paran\u00e1 Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana de Sousa","family":"Castro","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics Department of Genetics Federal University of Paran\u00e1 Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara Cristina","family":"Lobo\u2010Alves","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics Department of Genetics Federal University of Paran\u00e1 Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4763-4521","authenticated-orcid":false,"given":"Hauke","family":"Busch","sequence":"additional","affiliation":[{"name":"L\u00fcbeck Institute of Experimental Dermatology University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0384-114X","authenticated-orcid":false,"given":"Claudia","family":"Pf\u00f6hler","sequence":"additional","affiliation":[{"name":"Department of Dermatology Saarland University Medical Center Homburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3449-1245","authenticated-orcid":false,"given":"Margitta","family":"Worm","sequence":"additional","affiliation":[{"name":"Division of Allergy and Immunology Department of Dermatology, Venerology and Allergy Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Goebeler","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology University Hospital W\u00fcrzburg W\u00fcrzburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7834-8128","authenticated-orcid":false,"given":"Nina","family":"van Beek","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andre","family":"Franke","sequence":"additional","affiliation":[{"name":"Institute of Clinical Molecular Biology (IKMB) Christian\u2010Albrechts\u2010University of Kiel Kiel Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1462-4426","authenticated-orcid":false,"given":"Michael","family":"Wittig","sequence":"additional","affiliation":[{"name":"Institute of Clinical Molecular Biology (IKMB) Christian\u2010Albrechts\u2010University of Kiel Kiel Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5668-307X","authenticated-orcid":false,"given":"Detlef","family":"Zillikens","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7966-056X","authenticated-orcid":false,"given":"Rodrigo Coutinho","family":"de Almeida","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics Department of Genetics Federal University of Paran\u00e1 Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer Elisabeth","family":"Hundt","sequence":"additional","affiliation":[{"name":"L\u00fcbeck Institute of Experimental Dermatology University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0902-9622","authenticated-orcid":false,"given":"Angelica Beate Winter","family":"Boldt","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics Department of Genetics Federal University of Paran\u00e1 Curitiba 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