Breaking new ground in inflammatory bowel disease genetics: genome-wide association studies and beyond

2010 ◽  
Vol 11 (5) ◽  
pp. 663-665 ◽  
Author(s):  
Marcin Imielinski ◽  
Hakon Hakonarson
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
Inflammatory Bowel

scholarly journals Genome-wide association studies of inflammatory bowel disease in German shepherd dogs

PLoS ONE ◽  
2018 ◽  
Vol 13 (7) ◽  
pp. e0200685 ◽  
Author(s):  
Atiyeh Peiravan ◽  
Francesca Bertolini ◽  
Max F. Rothschild ◽  
Kenneth W. Simpson ◽  
Albert E. Jergens ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
German Shepherd ◽  
Genome Wide ◽  
Inflammatory Bowel

Identification of three novel susceptibility loci for inflammatory bowel disease in Koreans in an extended genome-wide association study

2021 ◽  
Author(s):  
Seulgi Jung ◽  
Byong Duk Ye ◽  
Ho-Su Lee ◽  
Jiwon Baek ◽  
Gyeonghoon Kim ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Association Studies ◽  
Meta Analysis ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Susceptibility Loci ◽  
Data Set ◽  
Genome Wide ◽  
Inflammatory Bowel

Abstract Background and Aims Genome-wide association studies (GWAS) of inflammatory bowel disease (IBD) in multiple populations have identified over 240 susceptibility loci. We previously performed a largest-to-date Asian-specific IBD GWAS to identify 2 new IBD risk loci and confirm associations with 28 established loci. To identify additional susceptibility loci in Asians, we expanded our previous study design by doubling the case size with an additional data set of 1,726 cases and 378 controls. Methods An inverse-variance fixed-effects meta-analysis was performed between the previous and the new GWAS dataset, comprising a total of 3,195 cases and 4,419 controls, followed by replication in an additional 1,088 cases and 845 controls. Results The meta-analysis of Korean GWAS identified 1 novel locus for ulcerative colitis at rs76227733 on 10q24 (pcombined = 6.56 × 10 -9) and 2 novel loci for Crohn’s disease (CD) at rs2240751 on 19p13 (pcombined = 3.03 × 10 -8) and rs6936629 in on 6q22 (pcombined = 3.63 × 10 -8). Pathway-based analysis of GWAS data using MAGMA showed that MHC and antigenic stimulus-related pathways were more significant in Korean CD, whereas cytokine and transcription factor-related pathways were more significant in European CD. Phenotype variance explained by the polygenic risk scores derived from Korean data explained up to 14 % of variance of CD whereas those derived from European data explained 10%, emphasizing the need for large-scale genetic studies in this population. Conclusions The identification of novel loci not previously associated with IBD suggest the importance of studying the inflammatory bowel disease genetics in diverse populations.

Very early onset inflammatory bowel disease (VEO-IBD); spectrum of clinical presentation, diagnostic tools and outcome in children

2021 ◽  
Vol 71 (10) ◽  
pp. 2350-2354
Author(s):  
Huma Arshad Cheema ◽  
Nadia Waheed ◽  
Anjum Saeed ◽  
Zafar Fayyaz ◽  
Muhammad Nadeem Anjum ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Early Onset ◽  
Clinical Presentation ◽  
Association Studies ◽  
Diagnostic Tools ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
Basic Work ◽  
Inflammatory Bowel

Background: Very early-onset inflammatory bowel disease (VEO-IBD) is defined as diagnosis of Ulcerative Colitis (UC) or Crohn’s Disease (CD) in children under six years of age. Genome wide association studies have linked a strong genetic component responsible for VEO-IBD. Approximately, 30-40% children of VEO-IBD have underlying immunodeficiency states. We aimed to study the spectrum of presentation, underlying monogenetic defects and outcome in VEO-IBD. Methods: This is a prospective, observational study conducted at division of Gastroenterology, the Children's Hospital & the Institute of Child Health, Lahore, over 2 years. Children developing features of IBD under six-years of age were included. Data included demography, clinical presentation, diagnostic tools and outcome. Gastroscopy and colonoscopy were performed in all patients in addition to basic work up done for associatedimmunodeficiency states and molecular genetics.  SPSS version 21 was used for analysis. Continuous...

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