title: Association analysis of class II cytokine and receptor genes in vitiligo patients.
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.
authors.affiliation: Department of Dermatology, University of Tartu, Raja 31, 50417 Tartu, Estonia; Centre of Excellence for Translational Medicine, University of Tartu, Ravila 19, 50411 Tartu, Estonia. Electronic address: tanel.traks@ut.ee.
authors.forename: Tanel
authors.initials: T
authors.lastname: Traks
authors.affiliation: Department of Dermatology, University of Tartu, Raja 31, 50417 Tartu, Estonia; Clinic of Dermatology, Tartu University Hospital, Raja 31, 50417 Tartu, Estonia.
authors.forename: Maire
authors.initials: M
authors.lastname: Karelson
authors.affiliation: Department of Pathophysiology, University of Tartu, Ravila 19, 50411 Tartu, Estonia; Department of Reproductive Biology, Estonian University of Life Sciences, Kreutzwaldi 62, 51014 Tartu, Estonia.
authors.forename: Ene
authors.initials: E
authors.lastname: Reimann
authors.affiliation: Department of Physiology, University of Tartu, Ravila 19, 50411 Tartu, Estonia.
authors.forename: Ranno
authors.initials: R
authors.lastname: Rätsep
authors.affiliation: Department of Dermatology, University of Tartu, Raja 31, 50417 Tartu, Estonia; Clinic of Dermatology, Tartu University Hospital, Raja 31, 50417 Tartu, Estonia.
authors.forename: Helgi
authors.initials: H
authors.lastname: Silm
authors.affiliation: Centre of Excellence for Translational Medicine, University of Tartu, Ravila 19, 50411 Tartu, Estonia; Department of Physiology, University of Tartu, Ravila 19, 50411 Tartu, Estonia.
authors.forename: Eero
authors.initials: E
authors.lastname: Vasar
authors.affiliation: Centre of Excellence for Translational Medicine, University of Tartu, Ravila 19, 50411 Tartu, Estonia; Department of Pathophysiology, University of Tartu, Ravila 19, 50411 Tartu, Estonia; Department of Reproductive Biology, Estonian University of Life Sciences, Kreutzwaldi 62, 51014 Tartu, Estonia.
authors.forename: Sulev
authors.initials: S
authors.lastname: Kõks
authors.affiliation: Department of Dermatology, University of Tartu, Raja 31, 50417 Tartu, Estonia; Clinic of Dermatology, Tartu University Hospital, Raja 31, 50417 Tartu, Estonia.
authors.forename: Külli
authors.initials: K
authors.lastname: Kingo
mesh_terms: D000906:Antibodies / Q000097:blood; D016022:Case-Control Studies; D018450:Disease Progression; D004957:Estonia; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007378:Interleukins / Q000235:genetics*; D007453:Iodide Peroxidase / Q000276:immunology; D008297:Male; D055882:Nevus, Halo / Q000473:pathology*; D020641:Polymorphism, Single Nucleotide; D053633:Receptor, Interferon alpha-beta / Q000235:genetics*; D012737:Sex Factors; D014820:Vitiligo / Q000235:genetics* / Q000503:physiopathology; D000097043:Interleukin-22
chemical_list: D000906:Antibodies; D007378:Interleukins; D007453:Iodide Peroxidase; D053633:Receptor, Interferon alpha-beta; D000097043:Interleukin-22; C507964:IFNAR1 protein, human; C406767:IL26 protein, human
keywords: Class II cytokine; Genetic association study; Haplotype; Single-nucleotide polymorphism; Vitiligo