2008
DOI: 10.3748/wjg.14.338
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Inflammatory bowel disease: Genetic and epidemiologic considerations

Abstract: Genome-wide association studies have firmly established that many genomic loci contribute to inflammatory bowel disease, especially in Crohn's disease. These studies have newly-established the importance of the interleukin 23 and autophagy pathways in disease pathogenesis. Future challenges include: (1) the establishment of precisely causal alleles, (2) definition of altered functional outcomes of associated and causal alleles and (3) integration of genetic findings with environmental factors.

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Cited by 50 publications
(36 citation statements)
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References 123 publications
(110 reference statements)
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“…The detailed aetiology for these enigmatic diseases is not currently fully understood, and while the histology and prognosis for the patients differ between CD and UC, they share similarities in the proposed underlying causes to the development of these conditions [2]. Currently, three broad areas are proposed to be involved in the development of IBD; these are: (i) genetic susceptibility including mutations of key proteins facilitating or enhancing the access of microbes to the epithelium and underlying layers, (ii) luminal antigenic drive (e.g.…”
Section: Introductionmentioning
confidence: 99%
“…The detailed aetiology for these enigmatic diseases is not currently fully understood, and while the histology and prognosis for the patients differ between CD and UC, they share similarities in the proposed underlying causes to the development of these conditions [2]. Currently, three broad areas are proposed to be involved in the development of IBD; these are: (i) genetic susceptibility including mutations of key proteins facilitating or enhancing the access of microbes to the epithelium and underlying layers, (ii) luminal antigenic drive (e.g.…”
Section: Introductionmentioning
confidence: 99%
“…Hence, numerous genome-wide association studies have identified variations in more than 160 genes involved in the intestinal immune homeostasis as risk factors for developing IBD. Most variants that have been functionally characterized are associated with the development of an immunological imbalance and inadequate immune response to the commensal flora [17,22,23,24,25,26,27]. Several genetic variants associated with IBD are also risk factors for other inflammatory or autoimmune disorders, e.g.…”
Section: Introductionmentioning
confidence: 99%
“…Application of IBD biomarkers is cheaper, less laborious, less invasive, and more objective compared to the endoscopy/biopsybased approach [1] . Current IBD biomarkers include serological, fecal and genetically predisposed gene polymorphisms [2][3][4][5] with imaging technologies such as optical, ultrasound, magnetic resonance imaging (MRI), X-ray, computer tomography (CT), position emission tomography (PET), single photon emission computed tomography (SPECT) [6][7][8][9] . Among those, fecal [10,11] and serological biomarkers, including systemic level of specific antibodies and other serum proteins [4,[12][13][14] , have been most widely explored and/or used in clinical studies.…”
Section: Introductionmentioning
confidence: 99%