{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T20:31:52Z","timestamp":1764102712477},"reference-count":41,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Disease Markers"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>We evaluated whether<jats:italic>TAP1<\/jats:italic>-rs1135216 (p.637D&gt;G) and<jats:italic>PSMB9<\/jats:italic>-rs17587 (p.60R&gt;H) were significantly associated with the risk and severity of vitiligo among Saudi patients. One hundred seventy-two subjects were genotyped for the<jats:italic>TAP1<\/jats:italic>-rs1135216 and<jats:italic>PSMB9<\/jats:italic>-rs17587 variants using endonuclease digestions of amplified genomic DNA. The<jats:italic>TAP1<\/jats:italic>-rs1135216 and<jats:italic>PSMB9<\/jats:italic>-rs17587 mutant alleles were strongly associated with vitiligo, with odds ratios showing five fold and two fold risks (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mi>P<\/mml:mi><mml:mo>&lt;<\/mml:mo><mml:mn>0.0001<\/mml:mn><\/mml:math>and<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\"><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn>0.007<\/mml:mn><\/mml:math>, resp.). In<jats:italic>TAP1<\/jats:italic>-rs1135216, the 637G mutant allele was more frequent in cases (74%) than in healthy controls. In cases, the 60H mutant allele<jats:italic>PSMB9<\/jats:italic>-rs17587 was less frequent (42%) than the wild-type 60R allele (58%). Vitiligo vulgaris was the most common type of disease, associated with the DG (55%) and GG (46%) genotypes for rs1135216 and with the RH genotype (59%) for rs17587. The heterozygous 637DG and 60RH genotypes were each linked with active phenotypes in 64% of cases. In conclusion, the<jats:italic>TAP1<\/jats:italic>-rs1135216 and<jats:italic>PSMB9<\/jats:italic>-rs17587 variants are significantly associated with vitiligo, and even one copy of these mutant alleles can influence the risk among Saudis. Vitiligo vulgaris is associated with genotypes containing the mutant G and H alleles.<\/jats:p>","DOI":"10.1155\/2014\/260732","type":"journal-article","created":{"date-parts":[[2014,12,7]],"date-time":"2014-12-07T21:01:19Z","timestamp":1417986079000},"page":"1-8","source":"Crossref","is-referenced-by-count":9,"title":["Transporter<i>TAP1<\/i>-637G and Immunoproteasome<i>PSMB9<\/i>-60H Variants Influence the Risk of Developing Vitiligo in the Saudi Population"],"prefix":"10.1155","volume":"2014","author":[{"given":"Nasser Attia","family":"Elhawary","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, P.O. Box 57543, Mecca 21955, Saudi Arabia"},{"name":"Department of Molecular Genetics, Medical Genetics Center, Faculty of Medicine, Ain Shams University, Cairo 11566, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neda","family":"Bogari","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, P.O. Box 57543, Mecca 21955, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Essam Hussien","family":"Jiffri","sequence":"additional","affiliation":[{"name":"Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"Rashad","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Al-Qatif Central Hospital, Dammam 31911, Saudi Arabia"},{"name":"Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo 11566, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdulhamid","family":"Fatani","sequence":"additional","affiliation":[{"name":"National Guard Hospitals, Faculty of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh 11564, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Tayeb","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, P.O. 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