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NOTCH pathway and TP53 protein are involved in the development of fibrosis and autoimmune disorders, respectively. The aim of this study was to evaluate the role of single nucleotide polymorphisms (SNPs) of <jats:italic>NOTCH3<\/jats:italic> and <jats:italic>TP53<\/jats:italic> genes and serum anti\u2010TP53 antibodies with the susceptibility, clinical subset of systemic sclerosis (SSc), and clinical profile of SSc patient, particularly with lung involvement and disease activity. <jats:italic>Objects and Methods<\/jats:italic>. 124 white Polish SSc patients (101 with limited cutaneous SSc\u2013lcSSc, and 23 with diffuse cutaneous SSc\u2013dcSSc) and 100 healthy individuals were included in the study. Patients were assessed for the presence of autoantibodies and interstitial lung disease. Two SNPs at position 6746 of <jats:italic>NOTCH3<\/jats:italic> gene (C\/T alleles) and 215 of the <jats:italic>TP53<\/jats:italic> gene (P\/R alleles) were genotyped by PCR\u2010restriction fragment length polymorphism. Serum levels of anti\u2010TP53 antibodies were analyzed by means of ELISA. <jats:italic>Results<\/jats:italic>. The genotypic frequencies of the <jats:italic>NOTCH3<\/jats:italic> gene for SSc patients diverged significantly from Hardy\u2013Weinberg equilibrium (<jats:italic>p<\/jats:italic> = 0.03; <jats:italic>\u03c7<\/jats:italic><jats:sup>2<\/jats:sup>\u2009=\u20094.63). There was no significant difference between SSc patients and the control population in allele frequencies of both SNPs. The CT\u2009+\u2009CC genotypes of <jats:italic>NOTCH3<\/jats:italic> influenced the susceptibility to SSc (OR\u2009=\u20091.85, <jats:italic>p<\/jats:italic> = 0.04), including dcSSc (OR\u2009=\u20093.43, <jats:italic>p<\/jats:italic> = 0.04), and active form of SSc (OR\u2009=\u20095.46, <jats:italic>p<\/jats:italic> &lt; 0.001). The PR\u2009+\u2009RR genotypes of the <jats:italic>TP53<\/jats:italic> gene were associated only with dcSSc susceptibility (OR\u2009=\u20093.30, <jats:italic>p<\/jats:italic> = 0.034). The levels of anti\u2010TP53 antibodies were not related to studied SNPs and clinical parameters of SSc including the presence of specific antibodies and interstitial lung disease. <jats:italic>Conclusion<\/jats:italic>. The CT\u2009+\u2009CC genotypes of <jats:italic>NOTCH3<\/jats:italic> gene and PR\u2009+\u2009RR genotypes of the <jats:italic>TP53<\/jats:italic> gene increased the risk of dcSSc development. Moreover, genotypes of CT\u2009+\u2009CC were associated with the active form of SSc suggesting the role of the NOTCH pathway in the pathogenesis of this disease.<\/jats:p>","DOI":"10.1155\/2020\/8465971","type":"journal-article","created":{"date-parts":[[2020,2,25]],"date-time":"2020-02-25T23:31:38Z","timestamp":1582673498000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["<i>NOTCH3<\/i> T6746C and <i>TP53<\/i> P72R Polymorphisms Are Associated with the Susceptibility to Diffuse Cutaneous Systemic Sclerosis"],"prefix":"10.1155","volume":"2020","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2039-2908","authenticated-orcid":false,"given":"Szymon","family":"Zmorzy\u0144ski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Wojcierowska-Litwin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata","family":"Kowal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata","family":"Michalska-Jakubus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0186-3118","authenticated-orcid":false,"given":"Wojciech","family":"Styk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agata Anna","family":"Filip","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irena","family":"Walecka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Krasowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,2,25]]},"reference":[{"key":"e_1_2_10_1_2","first-page":"3","article-title":"One year in review 2017: systemic sclerosis","volume":"35","author":"Barsotti S.","year":"2017","journal-title":"Clinical and Experimental Rheumatology"},{"key":"e_1_2_10_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrrheum.2014.137"},{"key":"e_1_2_10_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clindermatol.2006.07.004"},{"key":"e_1_2_10_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2018.08.021"},{"key":"e_1_2_10_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/keh671"},{"key":"e_1_2_10_6_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0806188"},{"key":"e_1_2_10_7_2","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2009.080618"},{"key":"e_1_2_10_8_2","doi-asserted-by":"publisher","DOI":"10.1253\/circj.cj-13-0685"},{"key":"e_1_2_10_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/19.13.3337"},{"key":"e_1_2_10_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0070-2153(10)92003-6"},{"key":"e_1_2_10_11_2","doi-asserted-by":"publisher","DOI":"10.1080\/10428190601186028"},{"key":"e_1_2_10_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22508"},{"key":"e_1_2_10_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1093"},{"key":"e_1_2_10_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/s1054-3589(08)61068-6"},{"key":"e_1_2_10_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm4007"},{"key":"e_1_2_10_16_2","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2010.100316"},{"key":"e_1_2_10_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/dyi130"},{"key":"e_1_2_10_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780230510"},{"key":"e_1_2_10_19_2","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2013-204424"},{"key":"e_1_2_10_20_2","first-page":"1855","article-title":"Classification criteria for systemic sclerosis subsets","volume":"34","author":"Johnson S. 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