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Jean-Pierre Hugot, Genetic Origin of IBD, Inflammatory Bowel Diseases, Volume 10, Issue suppl_1, 1 February 2004, Pages S11–S15, https://doi.org/10.1097/00054725-200402001-00003
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Extract
Inflammatory Bowel Diseases (IBD) are diseases of unknown etiology. For this reason, it is necessary in clinical practice to exclude several alternative disorders before retaining the diagnosis of Crohńs Disease (CD) or Ulcerative Colitis (UC). 1 This lack of knowledge limits not only the diagnostic procedures but also the development of specific treatments. Indeed, without knowledge on causative factors, IBD are treated today by nonspecific anti-inflammatory or immunosuppressive agents.
The main goal of geneticists is to try to fill this gap and to provide etiological data to the scientific community. From this point of view, recently obtained important results are considered to be a breakthrough toward a better understanding of IBD mechanisms. These advances allow us to formulate pathophysiologic hypotheses, which are now under investigation using functional models.
Genetic Epidemiology: Toward A Genetic Model of Inheritance
As early as 1934, CD was recognized as a familial disorder and this observation was further confirmed by many groups in the middle of the 20th century. The proportion of familial aggregations was reported in the range of 8% to 10% for CD and 6% to 8% for UC (for review see 2). Interestingly, percentages of familial aggregations as high as 30% were shown in pediatric practice, suggesting more important familial factors in case of early age at onset.