Association study between vitiligo and autoimmune-related genes CYP27B1, REL,TNFAIP3, IL2 and IL21 |
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Authors: | Laysa Toschi Martins Henrique Ravanhol Frigeri Caio Cesar Silva de Castro Marcelo Távora Mira |
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Affiliation: | 1. Graduate Program in Health Sciences, School of Medicine, Pontifícia Universidade Católica do Paraná, Curitiba, Brazil;2. School of Life Sciences, Pontifícia Universidade Católica do Paraná, Curitiba, Brazil;3. School of Medicine, Pontifícia Universidade Católica do Paraná, Curitiba, Brazil |
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Abstract: | The aetiology of vitiligo has not been fully elucidated, and several hypotheses have been investigated; among them, the most explored assumes an autoimmune basis for the disease. Supporting this hypothesis is the frequent co-occurrence of autoimmune diseases with vitiligo. In addition, various genetic loci associated with vitiligo harbour key immune response genes. Our general hypothesis is that autoimmunity-associated genes participate in the control of vitiligo susceptibility. To investigate this hypothesis, we tested for association between vitiligo and genes CYP27B1, REL, TNFAIP3 and IL2/IL21, all previously related to autoimmune diseases associated with vitiligo. The study was performed using two independent population samples: a family-based discovery set (211 trios) and a replication set (131 cases/119 controls). Statistically significant association with vitiligo was detected between markers of the REL and IL2 gene in the family-based sample. Both association signals were concentrated among patients displaying autoimmune comorbidity and non-segmental vitiligo. Evidence for validation was detected for IL2 marker. Our findings suggest REL and IL2 as new vitiligo susceptibility genes and reinforce the hypothesis of a shared genetic mechanism controlling vitiligo and other autoimmune diseases. |
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Keywords: | autoimmunity genetics IL2 REL vitiligo |
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