Crohnʼs disease and sarcoidosis: systemic granulomatosis?

Fellermann, Klaus; Stahl, Maren; Dahlhoff, Klaus; Amthor, M; Ludwig, D.; Stange, Eduard F.

doi:10.1097/00042737-199711000-00018

Cited by 33 publications

(20 citation statements)

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“…An association between Crohn's disease and sarcoidosis, both granulomatous inflammatory diseases, has been suggested. 35,36 IBD5, a Crohn's disease (CD) susceptibility locus on 5q31-33, is 13 cM centromeric to D5S211, 37 but D5S211 is too distant to provide much support that this Crohn's locus is involved in sarcoidosis susceptibility. A major susceptibility locus for CD is located on chromosome 16 (IBD1) 38 and mutations in the leucine-rich region (LRR) of the CARD15 (NOD2) (MIM 605956) gene associated with CD have been discovered.…”

Section: Discussionmentioning

confidence: 99%

Genome-wide search for sarcoidosis susceptibility genes in African Americans

et al. 2005

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Sarcoidosis, a systemic granulomatous disease of unknown etiology, likely results from an environmental insult in a genetically susceptible host. In the US, African Americans are more commonly affected with sarcoidosis and suffer greater morbidity than Caucasians. We searched for sarcoidosis susceptibility loci by conducting a genome-wide, sib pair multipoint linkage analysis in 229 African-American families ascertained through two or more sibs with a history of sarcoidosis. Using the Haseman-Elston regression technique, linkage peaks with P-values less than 0.05 were identified on chromosomes 1p22, 2p25, 5p15-13, 5q11, 5q35, 9q34, 11p15 and 20q13 with the most prominent peak at D5S2500 on chromosome 5q11 (P ¼ 0.0005). We found agreement for linkage with the previously reported genome scan of a German population at chromosomes 1p and 9q. Based on the multiple suggestive regions for linkage found in our study population, it is likely that more than one gene influences sarcoidosis susceptibility in African Americans. Fine mapping of the linked regions, particularly on chromosome 5q, should help to refine linkage signals and guide further sarcoidosis candidate gene investigation.

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Section: Discussionmentioning

confidence: 99%

Genome-wide search for sarcoidosis susceptibility genes in African Americans

et al. 2005

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“…Only 21 cases of pulmonary involvement in CD have previously been reported. 1–17 Although symptomatic pulmonary involvement may be rare in CD, latent pulmonary impairment and subclinical alveolitis as evidenced by lymphocytosis in BAL 18–22 have been described and are well recognized. This paper describes a patient with CD who presented with hemorrhagic shock due to massive hematochezia and who suffered exacerbation of pulmonary symptoms caused by diffuse epithelioid granulomatous lesions in both lungs and reviews the literature on the patient's background and the clinicopathological patterns and management of pulmonary involvement (excluding serositis and inflammation of the upper airway) in CD.…”

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confidence: 99%

Pulmonary Involvement in Crohn’s Disease

Omori

Asahi

Inoué

et al. 2004

Inflammatory Bowel Diseases

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Crohn's disease (CD) is a granulomatous systemic disorder of unknown etiology. Obvious pulmonary involvement is exceptional in patients with CD. We report a case of a 38-year-old man who suffered from CD for more than 14 years and was treated with oral steroids for more than 10 years. Surgical excision of parts of the ileum was performed for life-threatening ileal bleeding caused by CD. After acute tapering of oral steroids, pulmonary symptoms and radiologic abnormalities were noted. Lung biopsy through thoracoscopy was performed and revealed signs of chronic inflammation with multiple subepithelial noncaseating and epithelioid granulomas on pathologic examination. Intravenous steroids were required in the initial management of life-threatening pulmonary dysfunction after diagnostic thoracoscopy and led to marked improvement. Tuberculocidal therapy was performed until all microbiological cultures were negative. Oral steroid dosage had slowly been tapered over 1 month. He was discharged with clinical and radiologic improvements. After 36 months, the patient's condition is stable on continued treatment with prednisolone and mesalazine.

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“…12 There is considerable clinical overlap between the two diseases 10, 13 including manifestation of both disorders in a single patient. 14 Franke et al conducted a combined GWAS of 393 Crohn’s disease and 400 sarcoidosis patients and 399 controls in a German population, hypothesizing that any common susceptibility loci, if present, would demonstrate a stronger association peak.…”

Section: Discussionmentioning

confidence: 99%

Fine-mapping in African-American women confirms the importance of the 10p12 locus to sarcoidosis

et al. 2012

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Sarcoidosis is a chronic granulomatous disease with a wide spectrum of symptoms. Genome-wide association studies in European populations have reported significant associations between sarcoidosis and single nucleotide polymorphisms (SNPs) located in the inter-genic region between the C10ORF67 and OTUD1 genes on chromosome 10p12, and the ANXA11 gene (chromosome 10q22). We carried out fine-mapping at 10p12 and 10q22 to assess associations of genetic variants in those regions with sarcoidosis risk in African American women, based on 486 sarcoidosis cases and 943 age- and geography-matched controls in a nested case-control study within the Black Women’s Health Study. There were no significant associations with variants of the ANXA11 gene (P=0.17). Haplotypic analyses of the C10ORF67-OTUD1 inter-genic region revealed a strong inverse association of the variants rs1398024 and rs11013452 with sarcoidosis (OR=0.52; P=0.01). Both SNPs are located inside a ~300 kb low recombination region of chromosome 10p12, suggesting that both SNPs are tagging the same causal variant. Our top SNP (rs11013452) is located inside a smaller LD block in HapMap YRI, further narrowing the position of the causal SNP to a region of ~ 8kb on chromosome 10p12. The present findings confirm the potential importance of the 10p12 locus in the etiology of sarcoidosis.

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Crohnʼs disease and sarcoidosis: systemic granulomatosis?

Cited by 33 publications

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Genome-wide search for sarcoidosis susceptibility genes in African Americans

Genome-wide search for sarcoidosis susceptibility genes in African Americans

Pulmonary Involvement in Crohn’s Disease

Fine-mapping in African-American women confirms the importance of the 10p12 locus to sarcoidosis

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