7.5% the American population develop acute appendicitis making it the most common source of acute abdominal pain requiring surgery in the United States. By the end of the nineteenth century scientists and clinicians had already characterized the disease and recommended appendectomy as treatment [12]. More than a century later this major surgical intervention remains the standard treatment for acute appendicitis with more than 300000 appendectomies performed annually in the United States alone [3]. The causes of the disease remain however largely unknown [8]. Recently clinical trials have demonstrated than in the majority of the cases appendectomy is actually not required and that antibiotics are an appropriate initial treatment for uncomplicated acute appendicitis [910]. This is a change of paradigm for the treatment of the disease but it also improves our understanding of the causes of acute appendicitis as it proves that infectious agents are involved which had been previously hypothesized by researchers [11]. Furthermore there is evidence in the medical literature of familial cases of appendicitis reported since 1937 [12]. Life habits and environmental factors cannot fully explain this pattern of familial aggregation and statistical models have estimated than between 25 to 50% the heritability of the disease is due to genetic transmission [13-15]. The infectious and genetic nature of acute appendicitis leads us to the hypothesis that genetic variations of the immune system are involved in its causes. Scientists have previously addressed appendicitis from a genetic prospective [[16]. These authors found a large region of the human genome involved in the heritability of the disease. However there are no published studies using modern high-throughput sequencing methods which would help us look at genetic content at a finer resolution and find specific candidate genes involved in the transmission of the disease. In this study we plan to use whole exome sequencing in patients of interest. Whole exome sequencing has proven to be a reliable tool to extract genomic variations in the coding regions of the human genome [1718]. We will use this technique to highlight any candidate genes or events in the subjects" genome that may be involved in predisposition to appendicitis. Finding the genetic factors involved in the etiology of acute appendicitis will help us improve our understanding of the disease but due to the infectious nature of appendicitis it will also improve our understanding of the whole human immune system.



Eligible Ages
Between 0 and 100
Eligible Genders
Accepts Healthy Volunteers

Study Design

Study Type

More Details

Rockefeller University

Study Contact

Recruitment Office


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