Association analysis of class II cytokine and receptor genes in vitiligo patients



Traks, Tanel, Karelson, Maire, Reimann, Ene, Ratsep, Ranno, Silm, Helgi, Vasar, Eero, Koks, Sulev ORCID: 0000-0001-6087-6643 and Kingo, Kulli
(2016) Association analysis of class II cytokine and receptor genes in vitiligo patients. HUMAN IMMUNOLOGY, 77 (5). pp. 375-381.

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Abstract

The loss of melanocytes in vitiligo is mainly attributed to defective autoimmune mechanisms and lately autoinflammatory mediators have become more emphasized. Among these, a number of class II cytokines and their receptors have displayed altered expression patterns in vitiligo. Thus, we selected 30 SNPs from the regions of respective genes to be genotyped in Estonian case-control sample (109 and 328 individuals, respectively). For more precise analyses, patients were divided into subgroups based on vitiligo progression activity, age of onset, sex, occurrence of vitiligo among relatives, extent of depigmented areas, appearance of Köbner's phenomenon, existence of halo nevi, occurrence of spontaneous repigmentation, and amount of thyroid peroxidase antibodies. No associations appeared in whole vitiligo group. In subgroups, several allelic and haplotype associations were found. The strongest involved SNPs rs12301088 (near IL26 gene), that was associated with familial vitiligo and existence of halo nevi, and rs2257167 (IFNAR1 gene), that was associated with female vitiligo. Additionally, haplotypes consisting of rs12301088 and rs12321603 alleles (IL26-IL22 genes), that were associated with familial vitiligo and existence of halo nevi. In conclusion, several genetic associations with vitiligo subphenotypes were revealed and functional explanations to these remain to be determined in respective studies.

Item Type: Article
Uncontrolled Keywords: Vitiligo, Class II cytokine, Genetic association study, Single-nucleotide polymorphism, Haplotype
Depositing User: Symplectic Admin
Date Deposited: 17 Jul 2017 08:57
Last Modified: 19 Jan 2023 06:59
DOI: 10.1016/j.humimm.2015.09.050
Related URLs:
URI: https://livrepository.liverpool.ac.uk/id/eprint/3008497