What is the role of genetics in the etiology of aphthous stomatitis (canker sore)?

Updated: Sep 25, 2020
  • Author: Ginat W Mirowski, MD, DMD; Chief Editor: William D James, MD  more...
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Answer

A family history of recurrent aphthous ulcers is evident in some patients. A familial connection includes a young age of onset and symptoms of increased severity. Recurrent aphthous ulcer is highly correlated in identical twins. [33, 34]

Associations between specific HLA haplotypes (eg, HLA- B51) and recurrent aphthous ulcer have been investigated. No consistent association has been demonstrated. However, in two Iranian studies, polymorphisms in an inflammasome-related gene, NLRP3, and in the promoter region for the IL6 gene were found to be significantly associated with recurrent aphthous in a small cohort of patients. [35, 36] Still, host susceptibility is clearly variable, with a polygenic inheritance pattern, and penetrance likely depends on other factors. [37]


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