Genetic polymorphisms of matrix metalloproteinase 3 in primary sclerosing cholangitis

Liver International

Volumn 31, Issue 6, 2011, Pages 785-791

  Juran, Brian D ^a   Atkinson, Elizabeth J ^b   Schlicht, Erik M ^a   Larson, Joseph J ^b   Ellinghaus, David ^c   Franke, Andre ^c   Lazaridis, Konstantinos N ^a  

^a MAYO CLINIC   (United States)

^b Mayo Clinic   (United States)

^c UNIVERSITY OF KIEL   (Germany)

Author keywords

Cholestasis; Genetics; Genomics; Liver; PSC

Indexed keywords

STROMELYSIN;

ADULT; AGED; ALLELE; ARTICLE; BILE DUCT CARCINOMA; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INDEL MUTATION; LIVER TRANSPLANTATION; MAJOR CLINICAL STUDY; MALE; PRIMARY SCLEROSING CHOLANGITIS; SINGLE NUCLEOTIDE POLYMORPHISM; SURVIVAL; ULCERATIVE COLITIS;

EID: 79958072365     PISSN: 14783223     EISSN: 14783231     Source Type: Journal    
DOI: 10.1111/j.1478-3231.2010.02420.x     Document Type: Article

References (39)

1. Talwalkar JA, Lindor KD. Primary sclerosing cholangitis. Inflamm Bowel Dis 2005; 11: 62-72.
2. Karlsen TH, Schrumpf E, Boberg KM. Genetic epidemiology of primary sclerosing cholangitis. World J Gastroenterol 2007; 13: 5421-31.
3. Chapman R, Cullen S. Etiopathogenesis of primary sclerosing cholangitis. World J Gastroenterol 2008; 14: 3350-9.
4. Aoki CA, Bowlus CL, Gershwin ME. The immunobiology of primary sclerosing cholangitis. Autoimmun Rev 2005; 4: 137-43.
5. Saich R, Chapman R. Primary sclerosing cholangitis, autoimmune hepatitis and overlap syndromes in inflammatory bowel disease. World J Gastroenterol 2008; 14: 331-7.
6. Bambha K, Kim WR, Talwalkar J, et al. Incidence, clinical spectrum, and outcomes of primary sclerosing cholangitis in a United States community. Gastroenterology 2003; 125: 1364-9.
7. Kingham JG, Kochar N, Gravenor MB. Incidence, clinical patterns, and outcomes of primary sclerosing cholangitis in South Wales, United Kingdom. Gastroenterology 2004; 126: 1929-30.
8. Boberg KM, Aadland E, Jahnsen J, et al. Incidence and prevalence of primary biliary cirrhosis, primary sclerosing cholangitis, and autoimmune hepatitis in a Norwegian population. Scand J Gastroenterol 1998; 33: 99-103.
9. Kaplan GG, Laupland KB, Butzner D, Urbanski SJ, Lee SS. The burden of large and small duct primary sclerosing cholangitis in adults and children: a population-based analysis. Am J Gastroenterol 2007; 102: 1042-9.
10. Unos. Available at (accessed 16 November 2009)
11. Juran BD, Lazaridis KN. Genetics of hepatobiliary diseases. Clin Gastroenterol Hepatol 2006; 4: 548-57.
12. O'mahony CA, Vierling JM. Etiopathogenesis of primary sclerosing cholangitis. Seminars in Liver Disease 2006; 26: 3-21.
13. Aron JH, Bowlus CL. The immunobiology of primary sclerosing cholangitis. Semin Immunopathol 2009; 31: 383-97.
14. Pender SL, Tickle SP, Docherty AJ, et al. A major role for matrix metalloproteinases in T cell injury in the gut. J Immunol 1997; 158: 1582-90.
15. Louis E, Ribbens C, Godon A, et al. Increased production of matrix metalloproteinase-3 and tissue inhibitor of metalloproteinase-1 by inflamed mucosa in inflammatory bowel disease. Clin Exp Immunol 2000; 120: 241-6.
16. Von Lampe B, Barthel B, Coupland SE, Riecken EO, Rosewicz S. Differential expression of matrix metalloproteinases and their tissue inhibitors in colon mucosa of patients with inflammatory bowel disease. Gut 2000; 47: 63-73.
17. Salmela MT, Macdonald TT, Black D, et al. Upregulation of matrix metalloproteinases in a model of T cell mediated tissue injury in the gut: analysis by gene array and in situ hybridisation. Gut 2002; 51: 540-7.
18. Arthur MJ, Fibrogenesis II. Metalloproteinases and their inhibitors in liver fibrosis. Am J Physiol 2000; 279: G245-9.
19. Guo J, Friedman SL. Hepatic fibrogenesis. Semin Liver Dis 2007; 27: 413-26.
20. Kirstein M, Sanz L, Quinones S, et al. Cross-talk between different enhancer elements during mitogenic induction of the human stromelysin-1 gene. J Biol Chem 1996; 271: 18231-6.
21. Ye S, Eriksson P, Hamsten A, et al. Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression. J Biol Chem 1996; 271: 13055-60.
22. Borghaei RC, Rawlings PL Jr, Javadi M, Woloshin J. NF-kappaB binds to a polymorphic repressor element in the MMP-3 promoter. Biochem Biophys Res Commun 2004; 316: 182-8.
23. Rockman MV, Hahn MW, Soranzo N, et al. Positive selection on MMP3 regulation has shaped heart disease risk. Curr Biol 2004; 14: 1531-9.
24. Satsangi J, Chapman RW, Haldar N, et al. A functional polymorphism of the stromelysin gene (MMP-3) influences susceptibility to primary sclerosing cholangitis. Gastroenterology 2001; 121: 124-30.
25. Wiencke K, Louka AS, Spurkland A, et al. Association of matrix metalloproteinase-1 and -3 promoter polymorphisms with clinical subsets of Norwegian primary sclerosing cholangitis patients. J Hepatol 2004; 41: 209-14.
26. Carlson CS, Eberle MA, Rieder MJ, et al. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 2004; 74: 106-20.
27. Consortium TIH. The international hapmap project. Nature 2003; 426: 789-96.
28. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Ame J Hum Genet 2002; 70: 425-34.
29. Li J, Ji L. Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix. Heredity 2005; 95: 221-7.
30. Franke A, Balschun T, Sina C, et al. Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). Nat Genet 2010; 42: 292-4.
31. Li Y, Willer C, Sanna S, Abecasis G. Genotype imputation. Annu Rev Genomics Hum Genet 2009; 10: 387-406.
32. Okamoto K, Mimura K, Murawaki Y, Yuasa I. Association of functional gene polymorphisms of matrix metalloproteinase (MMP)-1, MMP-3 and MMP-9 with the progression of chronic liver disease. J Gastroenterol Hepatol 2005; 20: 1102-8.
33. Abilleira S, Bevan S, Markus HS. The role of genetic variants of matrix metalloproteinases in coronary and carotid atherosclerosis. J Med Genet 2006; 43: 897-901.
34. Deguara J, Burnand KG, Berg J, et al. An increased frequency of the 5A allele in the promoter region of the MMP3 gene is associated with abdominal aortic aneurysms. Hum Mol Genet 2007; 16: 3002-7.
35. Ye S, Patodi N, Walker-Bone K, et al. Variation in the matrix metalloproteinase-3, -7, -12 and -13 genes is associated with functional status in rheumatoid arthritis. Int J Immunogenet 2007; 34: 81-5.
36. Bradbury PA, Zhai R, Hopkins J, et al. Matrix metalloproteinase 1, 3 and 12 polymorphisms and esophageal adenocarcinoma risk and prognosis. Carcinogenesis 2009; 30: 793-8.
37. Wei JC, Lee HS, Chen WC, et al. Genetic polymorphisms of the matrix metalloproteinase-3 (MMP-3) and tissue inhibitors of matrix metalloproteinases-1 (TIMP-1) modulate the development of ankylosing spondylitis. Ann Rheum Dis 2009; 68: 1781-6.
38. Fanjul-Fernandez M, Folgueras AR, Cabrera S, Lopez-Otin C. Matrix metalloproteinases: evolution, gene regulation and functional analysis in mouse models. Biochim Biophys Acta 2010; 1803: 3-19.
39. Cheng YC, Kao WH, Mitchell BD, et al. Genome-wide association scan identifies variants near matrix metalloproteinase (MMP) genes on chromosome 11q21-22 strongly associated with serum MMP-1 levels. Circulation 2009; 2: 329-37.