Familial Occurrence of Inflammatory Bowel Disease

Orholm, Marianne; Munkholm, Pia; Langholz, Ebbe; Nielsen, Ole Haagen; Sørensen, Thorkild I A; Binder, Vibeke

doi:10.1056/nejm199101103240203

Cited by 592 publications

(294 citation statements)

References 19 publications

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“…Genetic epidemiology studies have suggested that UC and CD are polygenic diseases related to each other, and that genetic susceptibility and environmental factors are involved in the pathogenesis of both the diseases. [1][2][3][4] The incidence of IBD is relatively higher in Caucasian than in Asian populations; however, the incidence in Asia is increasing. 5,6 Of the two types of IBD, the genetic contribution to disease risk has been documented more extensively and clearly for CD [7][8][9][10][11][12][13][14][15][16][17] than for UC.…”

Section: Introductionmentioning

confidence: 99%

No association between TNFSF15 and IL23R with ulcerative colitis in Koreans

et al. 2011

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Recent genome-wide association studies have shown that some Crohn's disease (CD)-associated loci also contribute to ulcerative colitis (UC) susceptibility. To understand the genetic relationship between the two forms of inflammatory bowel disease, we investigated the well-established CD-susceptibility genes TNFSF15 (tumor necrosis factor ligand superfamily, member 15) and IL23R in Korean patients with UC. Eight TNFSF15 and five IL23R single-nucleotide polymorphisms were genotyped in 654 patients with UC and in 601 healthy controls. There was no association between TNFSF15 or IL23R variants and UC in Korean individuals, in contrast to previous reports of a shared association of the IL23R gene with both CD and UC in Caucasian individuals. Our data suggest that neither TNFSF15 nor IL23R variants contribute to UC susceptibility in Koreans.

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Section: Introductionmentioning

confidence: 99%

No association between TNFSF15 and IL23R with ulcerative colitis in Koreans

et al. 2011

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“…Although the aetiology of these diseases is not fully understood, there is strong support for a genetic component based on findings of familial aggregation, higher concordance in monozygotic twins and ethnic differences in disease prevalence. 1,2 To date, different genetic studies have shown several genes playing a relevant role in these diseases, including NOD2/CARD15, 3 DGL5, 4 SLC22A4 and SLC22A5, 5,6 TNFSF15, 7,8 NOD1/CARD4 7 and IL23R. 9,10 NOD2/CARD15 is likely to be the major genetic factor contributing to CD.…”

Section: Introductionmentioning

confidence: 99%

Association of ATG16L1 and IRGM genes polymorphisms with inflammatory bowel disease: a meta-analysis approach

et al. 2009

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The aim of this study was to determine the role of the ATG16L1 (rs2241880) and IRGM (rs13361189 and rs4958847) genes polymorphism in Crohn's disease (CD) and ulcerative colitis (UC). Our study included 557 CD and 425 UC patients and 672 ethnically matched Spanish controls and a meta-analysis with the data published to date. The polymorphisms were genotyped using predesigned TaqMan single nucleotide polymorphism genotyping assays. There was a statistically significant difference in the distribution of the ATG16L1 rs2241880 G allele between CD patients and controls in the Spanish population: P ¼ 6.5 Â 10 À9 , odds ratio (OR) ¼ 1.62. Although no differences were observed between UC patients and controls in the Spanish cohort, a meta-analysis demonstrated that the ATG16L1 G allele increase significantly risk for UC (P ¼ 0.0003, pooled OR ¼ 1.08). In addition, our meta-analysis data showed that IRGM rs13361189 and rs4958847 polymorphisms were associated with CD (rs13361189 C allele P ¼ 1.07 Â 10 À19 , pooled OR ¼ 1.34; rs4958847 A allele P ¼ 2.78 Â 10 À17 , pooled OR ¼ 1.31) and UC (rs13361189 P ¼ 0.0069, pooled OR ¼ 1.16; rs4958847 P ¼ 0.014, pooled OR ¼ 1.13). In conclusion, our results confirm the ATG16L1 rs2241880 and IRGM rs13361189 and rs4958847 polymorphisms as important markers for CD susceptibility and indicate that these variants are also associated with UC.

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“…IBD is a multifactorial disease caused by the interplay of genetic, environmental and immunological factors. 5,6 Epidemiological studies have consistently shown a familial clustering of IBD [7][8][9] as well as an increased concordance among monozygotic twins. 10,11 Genetic linkage studies in IBD provide a thorough proof for a genetic background, 12 and the first disease gene (NOD2 or CARD15) has been identified for CD.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease

Rosenstiel²,

Huse³

et al. 2005

Genes Immun

119

114

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Linkage analyses have implicated chromosome 7p21.3 as a susceptibility region for inflammatory bowel disease (IBD). Recently, the mouse phenotype with diarrhea and goblet cell dysfunction caused by anterior gradient protein 2 dysfunction was reported (European patent WO2004056858). The genes encoding for the human homologues AGR2 and AGR3 are localized on chromosome 7p21.3. The gene structures were verified and mutation detection was performed in 47 IBD patients. A total of 30 single nucleotide polymorphisms (SNPs) were tested for association to ulcerative colitis (UC, N ¼ 317) and Crohn's disease (CD, N ¼ 631) in a German cohort and verified in a UK cohort of 384 CD and 311 UC patients. An association signal was identified in the 5 0 region of the AGR2 gene (most significant SNP hcv1702494, nominal P TDT ¼ 0.011, P case/control ¼ 0.0007, OR ¼ 1.34, combined cohort). The risk haplotype carried an odds ratio of 1.43 in the German population (P ¼ 0.002). AGR2 was downregulated in UC patients as compared to normal controls (Po0.001) and a trend toward lower expression was seen in carriers of the risk alleles. Luciferase assays of the AGR2 promoter showed regulation by the goblet cell-specific transcription factors FOXA1 and FOXA2. In summary, AGR2 represents an interesting new avenue into the etiopathophysiology of IBD and the maintenance of epithelial integrity.

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Familial Occurrence of Inflammatory Bowel Disease

Abstract: The 10-fold increase in the familial risk of ulcerative colitis and Crohn's disease strongly suggests that these disorders have a genetic cause.

Cited by 592 publications

References 19 publications

No association between TNFSF15 and IL23R with ulcerative colitis in Koreans

No association between TNFSF15 and IL23R with ulcerative colitis in Koreans

Association of ATG16L1 and IRGM genes polymorphisms with inflammatory bowel disease: a meta-analysis approach

Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease

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