Transporter TAP1-637G and Immunoproteasome PSMB9-60H Variants Influence the Risk of Developing Vitiligo in the Saudi Population

• Published in: Disease markers Vol. 2014; no. 2014; pp. 1 - 8
• Main Authors: Fatani, Abdulhamid, Rashad, Mona, Jiffri, Essam Hussien, Bogari, Neda, Elhawary, Nasser Attia, Tayeb, Mohammed Taher
• Format: Journal Article
• Language: English
• Published: Cairo, Egypt Hindawi Publishing Corporation 01.01.2014; John Wiley & Sons, Inc
• Subjects: Adolescent; Adult; ATP-Binding Cassette Sub-Family B Member 2; ATP-Binding Cassette Transporters - genetics; Carrier proteins; Child; Child, Preschool; Cysteine Endopeptidases - genetics; Female; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Health aspects; Humans; Immunoproteins; Male; Middle Aged; Risk Factors; Saudi Arabia; Vitiligo; Vitiligo - genetics; Young Adult; Saudi Arabia
• ISSN: 0278-0240; 1875-8630; 1875-8630
• DOI: 10.1155/2014/260732

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.