{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T18:30:53Z","timestamp":1775759453712,"version":"3.50.1"},"reference-count":46,"publisher":"Public Library of Science (PLoS)","issue":"12","license":[{"start":{"date-parts":[[2020,12,28]],"date-time":"2020-12-28T00:00:00Z","timestamp":1609113600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:sec id=\"sec001\"><jats:title>Purpose &amp; methods<\/jats:title><jats:p>Several single-nucleotide polymorphisms (SNPs) in the promoter region of the TNF-\u03b1 gene can cause variations in the gene regulatory sites and act as risk factors for some autoimmune disorders as alopecia areata (AA) and vitiligo. This study aimed to detect the serum TNF-\u03b1 (sTNF) level (by ELISA) and the rs1800629 (by real-time PCR) among AA and vitiligo Egyptian patients and to determine their relation with disease duration and severity.<jats:italic>In silico<\/jats:italic>analysis of this SNP to study the molecular regulation of the mutant genotypes was also done.<\/jats:p><\/jats:sec><jats:sec id=\"sec002\"><jats:title>Results<\/jats:title><jats:p>In AA patients, no risk was associated with the mutant genotypes<jats:italic>vs<\/jats:italic>. the normal genotype, or with A allele<jats:italic>vs<\/jats:italic>. G allele. The risk of vitiligo was significantly higher with the G\/A and A\/A genotypes compared with HCs (<jats:italic>p<\/jats:italic>= 0.011). Similarly, a significantly increased risk was noted in patients with A allele<jats:italic>vs<\/jats:italic>. G allele<jats:italic>(p<\/jats:italic>&lt;0.0001). In AA and vitiligo patients, a significant increase in sTNF-\u03b1 levels was noted in the mutant G\/A genotypes<jats:italic>vs<\/jats:italic>. the normal G\/G genotype (<jats:italic>p<\/jats:italic>&lt;0.0001) and in the A allele vs the G allele<jats:italic>(p<\/jats:italic>&lt;0.0001). According to the<jats:italic>in silico<\/jats:italic>analysis, this SNP could mainly affect the SP1 transcription factor binding site with subsequent effect on TNF-\u03b1 expression.<\/jats:p><\/jats:sec><jats:sec id=\"sec003\"><jats:title>Conclusion<\/jats:title><jats:p>According to results of the laboratory and the<jats:italic>in silico<\/jats:italic>study, the mutant TNF-\u03b1 (308) genotypes were risk factors that conferred susceptibility to vitiligo among Egyptian patients but had no effect on the susceptibility to AA.<\/jats:p><\/jats:sec>","DOI":"10.1371\/journal.pone.0240221","type":"journal-article","created":{"date-parts":[[2020,12,28]],"date-time":"2020-12-28T23:10:30Z","timestamp":1609197030000},"page":"e0240221","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":18,"title":["Tumor necrosis factor (TNF)-\u03b1- 308 G\/A gene polymorphism (rs1800629) in Egyptian patients with alopecia areata and vitiligo, a laboratory and in silico analysis"],"prefix":"10.1371","volume":"15","author":[{"given":"Talal","family":"Abd El-Raheem","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6876-992X","authenticated-orcid":true,"given":"Rania H.","family":"Mahmoud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enas M.","family":"Hefzy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Masoud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reham","family":"Ismail","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nesreen M. 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