HLA-DRB1 Alleles May Influence Disease Phenotype in Patients With Inflammatory Bowel Disease: A Critical Reappraisal With Review of the Literature

Annese, Vito; Piepoli, Ada; Latiano, Anna; Lombardi, Giovanni; Napolitano, G.; Caruso, N.; Cocchiara, Elena; Accadia, L.; Perri, Francesco; Andriulli, Angelo

doi:10.1007/s10350-004-0747-0

Cited by 30 publications

(24 citation statements)

References 45 publications

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“…A meta-analysis of all genetic linkage studies was published in 2004, confirming the relationship between IBD and HLA molecules [17]. Previous studies have shown a link of HLA class II to UC and CD, revealing a possible connection between DR13 with UC and DR3 with DC [18]. A recent publication further suggests a possible increased risk of developing colorectal cancer in those who have UC and carry DR17 [19].…”

Section: Introductionmentioning

confidence: 85%

Study of killer immunoglobulin-like receptor genes and human leukocyte antigens class I ligands in a Caucasian Brazilian population with Crohn's disease and ulcerative colitis

Wilson

Jobim

et al. 2010

Human Immunology

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Section: Introductionmentioning

confidence: 85%

Study of killer immunoglobulin-like receptor genes and human leukocyte antigens class I ligands in a Caucasian Brazilian population with Crohn's disease and ulcerative colitis

Wilson

Jobim

et al. 2010

Human Immunology

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“…In a German study, the rs7574865 SNP in the STAT4 gene was associated with colonic CD 19 . The HLA-DRB1 (DR3) allele has been associated with colonic CD (11.5% vs. 0.4%) 20 while the TNF receptor superfamily polymorphism TNFRSF1B was inversely associated with colonic involvement independent of NOD2 21 . Homozygosity for the TCF4 transcription factor in the Wnt pathway 17 and NOD2 (Leu1007fsX1008) homozygosity have been associated upper gastrointestinal involvement in CD while a promoter region polymorphism in the macrophage migration inhibitor factor ( MIF ) appears to confer protection against upper gut involvement 22 .…”

Section: Genotype-phenotype Correlations In Ibdmentioning

confidence: 99%

How Does Genotype Influence Disease Phenotype in Inflammatory Bowel Disease?

Ananthakrishnan

Xavier

2013

Inflammatory Bowel Diseases

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Inflammatory bowel diseases (Crohn’s disease (CD); ulcerative colitis (UC)) are chronic immunologically mediated diseases of the gut. Advances in genetics have revolutionized our understanding of the pathogenesis of these conditions with 163 risk loci identified, encompassing a variety of immunologic functions. There is substantial heterogeneity in the natural history of these diseases with respect to disease onset, course, and progression to complications. There are also significant variations in response to therapies, and susceptibility to therapy-related and disease-related complications. An important need in the field is to identify predictors of disease course, complications, and likelihood of response and adverse events to allow for targeted therapeutic decision making. The genotype of an individual in constant and non-modifiable, and thus could potentially fulfill the role of important predictors of these outcomes. In this review, we discuss the existing literature on the prediction of various disease phenotypes in CD and UC utilizing underlying genotype. We also identify gaps in the literature and suggest future directions for research. There is need for large, multi-institution, and international collaborative consortia with efficient and detailed cohort accrual, phenotypic definition, genotyping, and dynamic assessments of external (for example, diet) and internal (microbiome) environment to allow us to progress towards personalized and precision medicine in the management of these complex diseases.

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“…The human leukocyte antigen (HLA) haplotype DRB1 was reported to be the most frequent in both diseases [9,10]. Furthermore, increases in interleukin (IL)-12 and IL-6 were noted in the two diseases, suggesting that similar proinflammatory cytokines are commonly involved in the pathogenesis of both diseases [11,12].…”

Section: Discussionmentioning

confidence: 97%

A case of Crohn’s disease associated with Takayasu’s arteritis and Henoch-Schönlein purpura

Ogawa

Matsumoto

Yada

et al. 2009

Clin J Gastroenterol

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A 14-year-old Japanese man was diagnosed with Crohn's disease in October 2001. Four years later, the patient was referred to our institution because of neck pain, fever and asymmetrical blood pressure. Magnetic resonance angiography, computed tomography and ultrasonography revealed findings compatible with Takayasu's arteritis. In March 2006, the patient developed purpura over bilateral hands and lower extremities, arthralgia, lower abdominal pain and microhematuria. The patient was diagnosed with Henoch-Schönlein purpura. This is the first reported case of Crohn's disease associated with two types of vascular complications.

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HLA-DRB1 Alleles May Influence Disease Phenotype in Patients With Inflammatory Bowel Disease: A Critical Reappraisal With Review of the Literature

Cited by 30 publications

References 45 publications

Study of killer immunoglobulin-like receptor genes and human leukocyte antigens class I ligands in a Caucasian Brazilian population with Crohn's disease and ulcerative colitis

Study of killer immunoglobulin-like receptor genes and human leukocyte antigens class I ligands in a Caucasian Brazilian population with Crohn's disease and ulcerative colitis

How Does Genotype Influence Disease Phenotype in Inflammatory Bowel Disease?

A case of Crohn’s disease associated with Takayasu’s arteritis and Henoch-Schönlein purpura

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