1. Mutations in IL36RN are associated with geographic tongue
- Author
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Ming Li, Lu Kang, Jianying Liang, Zhen Zhang, Chunxiao Li, Hui Zhang, Zhen Wang, Yirong Wang, Peichen Huang, Jinwen Shen, Jie Chen, Jia Zhang, Huaguo Li, Zhirong Yao, and Cheng Ni
- Subjects
0301 basic medicine ,Male ,medicine.medical_specialty ,Adolescent ,Genotyping Techniques ,Protein Conformation ,Biology ,medicine.disease_cause ,Cohort Studies ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Tongue ,Genetic variation ,Genotype ,Genetics ,medicine ,Humans ,Psoriasis ,Genetics(clinical) ,Genetic Predisposition to Disease ,Child ,Genotyping ,Glucocorticoids ,Genetics (clinical) ,Original Investigation ,Mutation ,Interleukins ,Genetic Variation ,medicine.disease ,Penetrance ,Molecular biology ,Glossitis, Benign Migratory ,Pedigree ,Geographic tongue ,030104 developmental biology ,Generalized pustular psoriasis ,Histopathology ,Female ,Interleukin-1 - Abstract
Geographic tongue (GT) is a benign inflammatory disorder of unknown etiology. Epidemiology and histopathology in previous studies found that generalized pustular psoriasis (GPP) is a factor associated with GT, but the molecular mechanism remains obscure. To investigate the mechanism of GT, with and without GPP, three cohorts were recruited to conduct genotyping of IL36RN, which is the causative gene of GPP. In a family spanning three generations and diagnosed with only GT (“GT alone”), GT was caused by the c.115+6T>C/p.Arg10ArgfsX1 mutation in the IL36RN gene. An autosomal dominant inheritance pattern with incomplete penetrance was observed. In the cohort consisting of sporadic cases of “GT alone” (n = 48), significant associations between GT and three IL36RN variants (c.115+6T>C/p.Arg10ArgfsX1, c.169G>A/p.Val57Ile and c.29G>A/p.Arg10Gln) were shown. In the GPP patient cohort (n = 56) and GPP family member cohort (n = 67), a significant association between the c.115+6T>C mutation and the simultaneous presence of GPP and GT was observed when compared to the presence of GPP without GT (P
- Published
- 2016