Genetics and metagenome studies in orofacial granulomatosis

Study code
NBR18

Lead researcher
Dr Natalie Prescott

Study type
Participant re-contact

Institution or company
Kings College London

Speciality area
Genomics and Rare Diseases, Gastroenterology

Summary

In some individuals, Crohn’s disease affects the mouth causing cracked swollen lips and painful oral ulceration.  This pattern of CD carries a disproportionate psychological burden as patients feel their disease is visible to others with a major negative impact on their self-esteem and ability to form relationships.

Oral CD is also referred to as orofacial granulomatosis (OFG) and can occur alone or in conjunction with CD in the gut. Interestingly, oral CD also has unique features, in particular the remarkable prominence of allergy, in addition to the factors thought to be relevant in intestinal CD. For example, atopy (hayfever, asthma) occurs in 80% of people with oral CD compared to only 20% of the general population. Also, about 60% of cases respond to diets which remove preservatives and colourings

In the 30 or more years since OFG has been described there have been only a few attempts to identify genetic causes. This is probably a result of the rarity of OFG and that it does not segregate as a Mendelian disorder. For these reasons, our recent investigations have focussed on elucidating genetic factors involved in the aetiology of OFG in order to better understand the route to pathogenesis and the relationship between OFG and intestinal CD.

The objective of the current study is to perform a replication/expansion analysis of our current dataset.