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http://purl.uniprot.org/citations/11438501http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11438501http://www.w3.org/2000/01/rdf-schema#comment"

Background and aims

We have investigated the influence of a biallelic polymorphism of the promoter region of stromelysin (matrix metalloproteinase 3) on susceptibility to primary sclerosing cholangitis (PSC). The 5A allele is associated with increased transcription, compared with wild-type (6A).

Methods

An allelic association study was performed: in stage 1, 52 PSC patients (43 with inflammatory bowel disease [IBD]) and 99 healthy subjects (HS) were genotyped. In stage 2, 59 PSC patients (49 IBD), 84 patients with uncomplicated ulcerative colitis, and 72 HS were genotyped.

Results

In stage 1, 5A carriage rate (90.4% vs. 72.7%; P = 0.012) and 5A allelic frequency (65.4% vs. 48.5%; P = 0.005) were increased, and 6A homozygosity was reduced in PSC (9.6% vs. 27.3%; P = 0.012). In stage 2, 5A allelic carriage was increased in PSC (93.2% vs. 76.4% in HS; P = 0.0092) and 6A homozygosity was reduced (6.8% vs. 23.8% in HS; P = 0.0092). Portal hypertension was associated with 5A homozygosity in PSC (P = 0.035; odds ratio [OR], 3.88). In the combined data set, 5A allelic frequencies (63.5% vs. 49.4%; P = 0.001; OR, 1.78) and 5A carriage rates (91.9% vs. 74.2%; P = 0.0002; OR, 3.92) were increased, and 6A homozygosity was reduced in PSC (8.1% vs. 25.7%; P = 0.0002; OR, 0.25). Overall, portal hypertension was associated with 5A homozygosity (P = 0.0192; OR, 3.12).

Conclusions

Stromelysin polymorphism may influence susceptibility and disease progression in PSC."xsd:string
http://purl.uniprot.org/citations/11438501http://purl.org/dc/terms/identifier"doi:10.1053/gast.2001.25527"xsd:string
http://purl.uniprot.org/citations/11438501http://purl.uniprot.org/core/author"Simmons J."xsd:string
http://purl.uniprot.org/citations/11438501http://purl.uniprot.org/core/author"Marshall S.E."xsd:string
http://purl.uniprot.org/citations/11438501http://purl.uniprot.org/core/author"Welsh K.I."xsd:string
http://purl.uniprot.org/citations/11438501http://purl.uniprot.org/core/author"Bell J.I."xsd:string
http://purl.uniprot.org/citations/11438501http://purl.uniprot.org/core/author"Mitchell S."xsd:string
http://purl.uniprot.org/citations/11438501http://purl.uniprot.org/core/author"Jewell D.P."xsd:string
http://purl.uniprot.org/citations/11438501http://purl.uniprot.org/core/author"Chapman R.W."xsd:string
http://purl.uniprot.org/citations/11438501http://purl.uniprot.org/core/author"Satsangi J."xsd:string
http://purl.uniprot.org/citations/11438501http://purl.uniprot.org/core/author"Donaldson P."xsd:string
http://purl.uniprot.org/citations/11438501http://purl.uniprot.org/core/author"Norris S."xsd:string
http://purl.uniprot.org/citations/11438501http://purl.uniprot.org/core/author"Haldar N."xsd:string
http://purl.uniprot.org/citations/11438501http://purl.uniprot.org/core/date"2001"xsd:gYear
http://purl.uniprot.org/citations/11438501http://purl.uniprot.org/core/name"Gastroenterology"xsd:string
http://purl.uniprot.org/citations/11438501http://purl.uniprot.org/core/pages"124-130"xsd:string
http://purl.uniprot.org/citations/11438501http://purl.uniprot.org/core/title"A functional polymorphism of the stromelysin gene (MMP-3) influences susceptibility to primary sclerosing cholangitis."xsd:string
http://purl.uniprot.org/citations/11438501http://purl.uniprot.org/core/volume"121"xsd:string
http://purl.uniprot.org/citations/11438501http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/11438501
http://purl.uniprot.org/citations/11438501http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/11438501
http://purl.uniprot.org/uniprot/#_A0A0U3J4I2-mappedCitation-11438501http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11438501
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http://purl.uniprot.org/uniprot/#_P08254-mappedCitation-11438501http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/11438501
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