title: Transporter TAP1-637G and immunoproteasome PSMB9-60H variants influence the risk of developing vitiligo in the Saudi population.
abstract: We evaluated whether TAP1-rs1135216 (p.637D>G) and PSMB9-rs17587 (p.60R>H) were significantly associated with the risk and severity of vitiligo among Saudi patients. One hundred seventy-two subjects were genotyped for the TAP1-rs1135216 and PSMB9-rs17587 variants using endonuclease digestions of amplified genomic DNA. The TAP1-rs1135216 and PSMB9-rs17587 mutant alleles were strongly associated with vitiligo, with odds ratios showing five fold and two fold risks (P < 0.0001 and P = 0.007, resp.). In TAP1-rs1135216, the 637G mutant allele was more frequent in cases (74%) than in healthy controls. In cases, the 60H mutant allele PSMB9-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 TAP1-rs1135216 and PSMB9-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.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, P.O. Box 57543, Mecca 21955, Saudi Arabia ; Department of Molecular Genetics, Medical Genetics Center, Faculty of Medicine, Ain Shams University, Cairo 11566, Egypt.
authors.forename: Nasser Attia
authors.initials: NA
authors.lastname: Elhawary
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, P.O. Box 57543, Mecca 21955, Saudi Arabia.
authors.forename: Neda
authors.initials: N
authors.lastname: Bogari
authors.affiliation: Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
authors.forename: Essam Hussien
authors.initials: EH
authors.lastname: Jiffri
authors.affiliation: Department of Pediatrics, Al-Qatif Central Hospital, Dammam 31911, Saudi Arabia ; Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo 11566, Egypt.
authors.forename: Mona
authors.initials: M
authors.lastname: Rashad
authors.affiliation: National Guard Hospitals, Faculty of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh 11564, Saudi Arabia.
authors.forename: Abdulhamid
authors.initials: A
authors.lastname: Fatani
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, P.O. Box 57543, Mecca 21955, Saudi Arabia.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Tayeb
mesh_terms: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003546:Cysteine Endopeptidases / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D012307:Risk Factors; D012529:Saudi Arabia; D014820:Vitiligo / Q000235:genetics*; D055815:Young Adult
chemical_list: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D018528:ATP-Binding Cassette Transporters; C073119:TAP1 protein, human; C071313:LMP-2 protein; D003546:Cysteine Endopeptidases