The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients

Lene Riis; Ida Vind; Severine Vermeire; Frank Wolters; Kostas Katsanos; Patrizia Politi; João Freitas; Ioannis A Mouzas; Colm O'Morain; Victor Ruiz-Ochoa; Selwyn Odes; Vibeke Binder; Pia Munkholm; Bjørn Moum; Reinhold Stockbrügger; Ebbe Langholz; NN NN

doi:10.1002/ibd.20047

The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients

Lene Riis, Ida Vind, Severine Vermeire, Frank Wolters, Kostas Katsanos, Patrizia Politi, João Freitas, Ioannis A Mouzas, Colm O'Morain, Victor Ruiz-Ochoa, Selwyn Odes, Vibeke Binder, Pia Munkholm, Bjørn Moum, Reinhold Stockbrügger, Ebbe Langholz, NN NN

Department of Clinical Medicine

68 Citations (Scopus)

Abstract

BACKGROUND AND AIM: The aetiology of inflammatory bowel disease (IBD) is unknown, but it has become evident that genetic factors are involved in disease susceptibility. Studies have suggested a north-south gradient in the incidence of IBD, raising the question whether this difference is caused by genetic heterogeneity. We aimed to investigate the prevalence of polymorphisms in CARD15 and TLR4 and occurrence of anti-Saccharomyces cerevisiae (ASCA) and antineutrophil cytoplasmic antibodies (pANCA) in a European population-based IBD cohort. METHODS: Individuals from the incident cohort were genotyped for three mutations in CARD15 and the Asp299gly mutation in TLR4. Levels of ASCA and pANCA were assessed. Disease location and behaviour at time of diagnosis was obtained from patient files. RESULTS: Overall CARD15 mutation rate was 23.9% for CD and 9.6% for UC patients (P < 0.001). Mutations were less present in the Scandinavian countries (12.1%) versus the rest of Europe (32.8%) (P < 0.001). Overall population attributable risk was 11.2%. TLR4 mutation rate was 7.6% in CD, 6.7% in UC patients and 12.3% in healthy controls (HC), highest among South European CD patients and HC. ASCA was seen in 28.5% of CD patients with no north-south difference, and was associated with complicated disease. pANCA was most common in North European UC patients and not associated with disease phenotype. CONCLUSION: The prevalence of mutations in CARD15 varied across Europe, and was not correlated to the incidence of CD. There was no association between mutations in TLR4 and IBD. The prevalence of ASCA was relatively low; however related to severe CD.

Original language	English
Journal	Inflammatory Bowel Diseases
Volume	13
Issue number	1
Pages (from-to)	24-32
Number of pages	8
ISSN	1078-0998
DOIs	https://doi.org/10.1002/ibd.20047
Publication status	Published - 2007

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Riis, L., Vind, I., Vermeire, S., Wolters, F., Katsanos, K., Politi, P., Freitas, J., Mouzas, I. A., O'Morain, C., Ruiz-Ochoa, V., Odes, S., Binder, V., Munkholm, P., Moum, B., Stockbrügger, R., Langholz, E., & NN, NN. (2007). The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients. Inflammatory Bowel Diseases, 13(1), 24-32. https://doi.org/10.1002/ibd.20047

Riis, L, Vind, I, Vermeire, S, Wolters, F, Katsanos, K, Politi, P, Freitas, J, Mouzas, IA, O'Morain, C, Ruiz-Ochoa, V, Odes, S, Binder, V, Munkholm, P, Moum, B, Stockbrügger, R, Langholz, E & NN, NN 2007, 'The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients', Inflammatory Bowel Diseases, vol. 13, no. 1, pp. 24-32. https://doi.org/10.1002/ibd.20047

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abstract = "BACKGROUND AND AIM: The aetiology of inflammatory bowel disease (IBD) is unknown, but it has become evident that genetic factors are involved in disease susceptibility. Studies have suggested a north-south gradient in the incidence of IBD, raising the question whether this difference is caused by genetic heterogeneity. We aimed to investigate the prevalence of polymorphisms in CARD15 and TLR4 and occurrence of anti-Saccharomyces cerevisiae (ASCA) and antineutrophil cytoplasmic antibodies (pANCA) in a European population-based IBD cohort. METHODS: Individuals from the incident cohort were genotyped for three mutations in CARD15 and the Asp299gly mutation in TLR4. Levels of ASCA and pANCA were assessed. Disease location and behaviour at time of diagnosis was obtained from patient files. RESULTS: Overall CARD15 mutation rate was 23.9% for CD and 9.6% for UC patients (P < 0.001). Mutations were less present in the Scandinavian countries (12.1%) versus the rest of Europe (32.8%) (P < 0.001). Overall population attributable risk was 11.2%. TLR4 mutation rate was 7.6% in CD, 6.7% in UC patients and 12.3% in healthy controls (HC), highest among South European CD patients and HC. ASCA was seen in 28.5% of CD patients with no north-south difference, and was associated with complicated disease. pANCA was most common in North European UC patients and not associated with disease phenotype. CONCLUSION: The prevalence of mutations in CARD15 varied across Europe, and was not correlated to the incidence of CD. There was no association between mutations in TLR4 and IBD. The prevalence of ASCA was relatively low; however related to severe CD.",

author = "Lene Riis and Ida Vind and Severine Vermeire and Frank Wolters and Kostas Katsanos and Patrizia Politi and Jo{\~a}o Freitas and Mouzas, {Ioannis A} and Colm O'Morain and Victor Ruiz-Ochoa and Selwyn Odes and Vibeke Binder and Pia Munkholm and Bj{\o}rn Moum and Reinhold Stockbr{\"u}gger and Ebbe Langholz and NN NN",

year = "2007",

doi = "10.1002/ibd.20047",

language = "English",

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pages = "24--32",

journal = "Inflammatory Bowel Diseases",

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TY - JOUR

T1 - The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients

AU - Riis, Lene

AU - Vind, Ida

AU - Vermeire, Severine

AU - Wolters, Frank

AU - Katsanos, Kostas

AU - Politi, Patrizia

AU - Freitas, João

AU - Mouzas, Ioannis A

AU - O'Morain, Colm

AU - Ruiz-Ochoa, Victor

AU - Odes, Selwyn

AU - Binder, Vibeke

AU - Munkholm, Pia

AU - Moum, Bjørn

AU - Stockbrügger, Reinhold

AU - Langholz, Ebbe

AU - NN, NN

PY - 2007

Y1 - 2007

N2 - BACKGROUND AND AIM: The aetiology of inflammatory bowel disease (IBD) is unknown, but it has become evident that genetic factors are involved in disease susceptibility. Studies have suggested a north-south gradient in the incidence of IBD, raising the question whether this difference is caused by genetic heterogeneity. We aimed to investigate the prevalence of polymorphisms in CARD15 and TLR4 and occurrence of anti-Saccharomyces cerevisiae (ASCA) and antineutrophil cytoplasmic antibodies (pANCA) in a European population-based IBD cohort. METHODS: Individuals from the incident cohort were genotyped for three mutations in CARD15 and the Asp299gly mutation in TLR4. Levels of ASCA and pANCA were assessed. Disease location and behaviour at time of diagnosis was obtained from patient files. RESULTS: Overall CARD15 mutation rate was 23.9% for CD and 9.6% for UC patients (P < 0.001). Mutations were less present in the Scandinavian countries (12.1%) versus the rest of Europe (32.8%) (P < 0.001). Overall population attributable risk was 11.2%. TLR4 mutation rate was 7.6% in CD, 6.7% in UC patients and 12.3% in healthy controls (HC), highest among South European CD patients and HC. ASCA was seen in 28.5% of CD patients with no north-south difference, and was associated with complicated disease. pANCA was most common in North European UC patients and not associated with disease phenotype. CONCLUSION: The prevalence of mutations in CARD15 varied across Europe, and was not correlated to the incidence of CD. There was no association between mutations in TLR4 and IBD. The prevalence of ASCA was relatively low; however related to severe CD.

AB - BACKGROUND AND AIM: The aetiology of inflammatory bowel disease (IBD) is unknown, but it has become evident that genetic factors are involved in disease susceptibility. Studies have suggested a north-south gradient in the incidence of IBD, raising the question whether this difference is caused by genetic heterogeneity. We aimed to investigate the prevalence of polymorphisms in CARD15 and TLR4 and occurrence of anti-Saccharomyces cerevisiae (ASCA) and antineutrophil cytoplasmic antibodies (pANCA) in a European population-based IBD cohort. METHODS: Individuals from the incident cohort were genotyped for three mutations in CARD15 and the Asp299gly mutation in TLR4. Levels of ASCA and pANCA were assessed. Disease location and behaviour at time of diagnosis was obtained from patient files. RESULTS: Overall CARD15 mutation rate was 23.9% for CD and 9.6% for UC patients (P < 0.001). Mutations were less present in the Scandinavian countries (12.1%) versus the rest of Europe (32.8%) (P < 0.001). Overall population attributable risk was 11.2%. TLR4 mutation rate was 7.6% in CD, 6.7% in UC patients and 12.3% in healthy controls (HC), highest among South European CD patients and HC. ASCA was seen in 28.5% of CD patients with no north-south difference, and was associated with complicated disease. pANCA was most common in North European UC patients and not associated with disease phenotype. CONCLUSION: The prevalence of mutations in CARD15 varied across Europe, and was not correlated to the incidence of CD. There was no association between mutations in TLR4 and IBD. The prevalence of ASCA was relatively low; however related to severe CD.

U2 - 10.1002/ibd.20047

DO - 10.1002/ibd.20047

M3 - Journal article

SN - 1078-0998

VL - 13

SP - 24

EP - 32

JO - Inflammatory Bowel Diseases

JF - Inflammatory Bowel Diseases

IS - 1

ER -

The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients

Abstract

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