ArticleBMC medical genetics2008
Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.
Article in BMC medical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 11 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
23 citing papers in PubMed, 11 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- Population stratified differences between ATG16L1 rs2241880 polymorphism with Crohn's disease risk: a systematic review and meta-analysis.BMC gastroenterology · 2025Pooled it
- ATG16L1 rs2241880/T300A increases susceptibility to perianal Crohn's disease: An updated meta-analysis on inflammatory bowel disease risk and clinical outcomes.United European gastroenterology journal · 2024Pooled it
- Genetic association between IL23R rs11209026 and rs10889677 polymorphisms and risk of Crohn's disease and ulcerative colitis: evidence from 41 studies.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2020Pooled it
- Association between ATG16L1 gene polymorphism and the risk of Crohn's disease.The Journal of international medical research · 2017Pooled it
- Meta-analysis of associations between DLG5 R30Q and P1371Q polymorphisms and susceptibility to inflammatory bowel disease.Scientific reports · 2016Pooled it
- Association of Interleukin-23 receptor gene polymorphisms with susceptibility to Crohn's disease: A meta-analysis.Scientific reports · 2015Pooled it
- Association between OCTN1/2 gene polymorphisms (1672C-T, 207G-C) and susceptibility of Crohn's disease: a meta-analysis.International journal of colorectal disease · 2012Pooled it
- Contribution of the IBD5 locus to inflammatory bowel disease: a meta-analysis.Human genetics · 2011Pooled it
- Interleukin-23 receptor genetic polymorphisms and Crohn's disease susceptibility: a meta-analysis.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2010Pooled it
- T300A polymorphism of ATG16L1 and susceptibility to inflammatory bowel diseases: a meta-analysis.World journal of gastroenterology · 2010Pooled it
- ATG16L1 T300A polymorphism and Crohn's disease susceptibility: evidence from 13,022 cases and 17,532 controls.Human genetics · 2009Pooled it
- The genomic portrait of the Picene culture provides new insights into the Italic Iron Age and the legacy of the Roman Empire in Central Italy.Genome biology · 2024Article
- Genetic history of Cambridgeshire before and after the Black Death.Science advances · 2024Article
- A 60-Year-Old Woman with Primary Biliary Cholangitis and Crohn's Ileitis Following the Suspension of Ursodeoxycholic Acid.The American journal of case reports · 2022Article
- NOD2 gene variants confer risk for secondary sclerosing cholangitis in critically ill patients.Scientific reports · 2017Article
- Primary Sclerosing Cholangitis: Multiple Phenotypes, Multiple Approaches.Clinics in liver disease · 2016Review
- Frequency and risk factors of primary sclerosing cholangitis among patients with inflammatory bowel disease in North-East of Iran.Gastroenterology and hepatology from bed to bench · 2015Article
- Clinical significance and prevalence of anti-Saccharomyces cerevisiae antibody in Chinese patients with primary biliary cirrhosis.Clinical and experimental medicine · 2013Article
- Article
- Cutting edge issues in primary sclerosing cholangitis.Clinical reviews in allergy & immunology · 2011Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNumerous papers have addressed the association of mutations and polymorphisms of susceptibility genes with autoimmune inflammatory disorders. We investigated whether polymorphisms that confer susceptibility to Crohn's disease could be classified also as predisposing factors for the development of primary sclerosing cholangitis and primary biliary cirrhosis in Polish patients.
methodsThe study included 60 patients with CD, 77 patients with PSC, of which 61 exhibited IBD (40 UC, 8 CD, and 13 indeterminate colitis), and 144 patients with PBC. All the patients were screened against Crohn's disease associating genetic polymorphisms. The polymorphisms were chosen according to previously confirmed evidence for association with Crohn's disease, including Pro268Ser, Arg702Trp, Gly908Arg and 1007fs in NOD2/CARD15, Leu503Phe/-207G>C in SLC22A4/OCTN1/SLC22A5/OCTN2, Arg30Gln in DLG5, Thr300Ala in ATG16L1, and Arg381Gln, His3Gln and exon-3'UTR in IL23R. Genotyping was carried out using TaqMan SNP genotyping assays.
resultsWe confirmed a strong association between three NOD2/CARD15 gene variants (Pro268Ser, OR = 2.52, 95% CI = 1.34-4.75); (Arg702Trp, OR = 6.65, 95% CI = 1.99-22.17); (1007fs, OR = 9.59, 95% CI = 3.94-23.29), and a weak association between both the protective OCTN1/OCTN2 CC haplotype (OR = 0.28, 95% CI = 0.08-0.94), and a variant of ATG16L1 gene (Thr300Ala, OR = 0.468, 95% CI = 0.24-0.90) with Crohn's disease. In contrast, none of the polymorphisms exhibited association with susceptibility to primary sclerosing cholangitis and primary biliary cirrhosis, including a group of primary sclerosing cholangitis patients with concurrent IBD.
conclusionAlthough the clinical data indicate non-random co-occurrence of inflammatory bowel disease and primary sclerosing cholangitis, consistently with the previously published studies, no genetic association was found between the genetic variants predisposing to Crohn's disease and hepatobiliary autoimmune disorders. However, since estimation of genetic variant disproportion is limited by sample size, these negative results may also indicate that eventually shared genetic predispositions are too little to be captured by small patient groups.
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