Inheritance of Aphthous Ulcers of the Mouth

¹ Philadelphia General Hospital and University of Pennsylvania School of Dentistry, Philadelphia, Pennsylvania

The frequency of subjects susceptible to recurrent aphthous ulcers (RAU) with family histories of disease has been noted previously but not examined in reference to the possibility of genetic factors. Considering the absence of a clearly defined etiology of RAU, a study of 815 families with and without RAU was conducted to determine whether susceptibility to recurrent ulcerations in the mouth may be inherited.

A total of 1,788 professional school students were interviewed following color-slide demonstration and description of RAU using clinical and historical criteria. Family history of disease among both RAU-positive and RAU-negative students was determined by both schedule and examination methods. A total of 815 families with 1,974 offspring provided complete data and were included in the study. Segregation frequencies for autosomal dominant and recessive inheritance were derived from Stern and Lilienfeld, respectively, and comparisons between the observed and expected frequencies of disease among three parental mating types for RAU were compared statistically using critical ratio analyses. The disparities between observed and expected values for dominant inheritance were highly significant, while conflicting results were obtained for recessive inheritance; the observed segregation ratios are higher than expected when one parent is affected, while the values for both parents affected are suggestive of a recessive inheritance hypothesis.

A genetic hypothesis for RAU has not been disproven by the study, the pattern of autosomal recessive inheritance deserving more detailed examination.

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