Genome-wide association studies in hepatology;Genomweite assoziationsstudien in der hepatologie

Zeitschrift fur Gastroenterologie

Volumn 48, Issue 1, 2010, Pages 56-64

  Weber, S ^a   Grunhage F ^a   Hall, R ^a   Lammert, F ^a  

^a SAARLAND UNIVERSITY   (Germany)

Author keywords

Gallstones; Gene variants; Liver fibrosis; Polymorphisms; Viral hepatitis

Indexed keywords

DISEASE COURSE; DISEASE PREDISPOSITION; DNA POLYMORPHISM; GENETIC RISK; GENOME ANALYSIS; GENOTYPE; HUMAN; LIVER DISEASE; PHENOTYPE; REVIEW;

ALLELES; ANIMALS; DISEASE PROGRESSION; FATTY LIVER; GALLSTONES; GENE EXPRESSION PROFILING; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HEPATITIS C, CHRONIC; HUMANS; LIVER CIRRHOSIS; LIVER CIRRHOSIS, BILIARY; LIVER CIRRHOSIS, EXPERIMENTAL; MICE; MICE, INBRED STRAINS; PHENOTYPE; POLYMORPHISM, GENETIC; RISK FACTORS; SOCIAL ENVIRONMENT;

EID: 76549102564     PISSN: 00442771     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0028-1109982     Document Type: Review

References (65)

1. Hardy J, Singleton A. Genomewide association studies and human disease. N Engl J Med 2009; 360:1759-1768
2. Grünhage F, Nattermann J, Gressner OA et al. Lower copy numbers of the chemokine CCL3L1 gene in patients with chronic hepatitis C. J Hepatol 2009; im Druck
3. Buch S, Schafmayer C, Völzke H et al. A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet 2007; 39: 995-999
4. Katsika D, Grjibovski A, Einarsson C et al. Genetic and environmental influences on symptomatic gallstone disease: a Swedish study of 43, 141 twin pairs. Hepatology 2005; 41: 1138-1143
5. Lyons MA, Wittenburg H. Cholesterol gallstone susceptibility loci: a mouse map, candidate gene evaluation, and guide to human LITH genes. Gastroenterology 2006; 131: 1943-1970
6. Grünhage F, Acalovschi M, Tirziu S et al. Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol. Hepatology 2007; 46: 793-801
7. Wittenburg H, Tönjes A, Mirzakhyl S et al. Identifizierung neuer Gallensteingene (LITH-Gene) in einer genomweiten Assoziationsstudie basierend auf der "Gallensteinkarte" des Inzuchtmausmodells der Cholelithiasis. Z Gastroenterol 2009; 47: 855
8. Kuo KK, Shin SJ, Chen ZC et al. Significant association of ABCG5 604Q. and ABCG8 D 19 H polymorphisms with gallstone disease. Br J Surg 2008; 95: 1005-1011
9. Rosmorduc O, Hermelin B, Boelle PY et al. ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology 2003; 125: 452-459
10. Schafmayer C, Tepel J, Franke A et al. Investigation of the Lith1 candidate genes ABCB11 and LXRA in human gallstone disease. Hepatology 2006; 44: 650-657
11. Acalovschi M, Tirziu S, Chiorean E et al. Common variants of ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with gallstones, and controls. Lipids 2009; 44: 521-526
12. Lammert F, Sauerbruch T. Mechanisms of disease: the genetic epidemiology of gallbladder stones. Nat Clin Pract Gastroenterol Hepatol 2005; 2: 423-433
13. Höblinger A, Lammert F. Genetics of biliary tract diseases: new insights into gallstone disease and biliary tract cancers. Curr Opin Gastroenterol 2008; 24: 363-371
14. Wasmuth HE, Keppeler H, Herrmann U et al. Coinheritance of Gilbert syndrome-associated UGT1A1 mutation increases gallstone risk in cystic fibrosis. Hepatology 2006; 43: 738-741
15. Johnson AD, Kavousi M, Smith AV et al. Genome-wide association metaanalysis for total serum bilirubin levels. Hum Mol Genet 2009; 18: 2700-2710
16. Struben VM, Hespenheide EE, Caldwell SH. Nonalcoholic steatohepatitis and cryptogenic cirrhosis within kindreds. Am J Med 2000; 108: 9-13
17. Willner IR, Waters B, Patil SR et al. Ninety patients with nonalcoholic steatohepatitis: insulin resistance, familial tendency, and severity of disease. Am J Gastroenterol 2001; 96: 2957-2961
18. de Wilfred Alwis NM, Day CP. Genetics of alcoholic liver disease and nonalcoholic fatty liver disease. Semin Liver Dis 2007; 27: 44-54
19. Romeo S, Kozlitina J, Xing C et al. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet 2008; 40: 1461-1465
20. Tian C, Stokowski RP, Kershenobich D et al. Variant in PNPLA3 is associated with alcoholic liver disease. Nat Genet 2009; (epub ahead of print]
21. Bathum L, Petersen HC, Rosholm JU et al. Evidence for a substantial genetic influence on biochemical liver function tests: results from a population-based Danish twin study. Clin Chem 2001; 47: 81-87
22. Whitfield JB, Zhu G, Nestler JE et al. Genetic covariation between serum gamma-glutamyltransferase activity and cardiovascular risk factors. Clin Chem 2002; 48: 1426-1431
23. Jones DE, Watt FE, Metcalf JV et al. Familial primary biliary cirrhosis reassessed: a geographically-based population study. J Hepatol 1999; 30: 402-407
24. Selmi C, Mayo MJ, Bach N et al. Primary biliary cirrhosis in monozygotic and dizygotic twins: genetics, epigenetics, and environment. Gastroenterology 2004; 127: 485-492
25. Donaldson P, Veeramani S, Baragiotta A et al. Cytotoxic T-lymphocyte-associated antigen-4 single nucleotide polymorphisms and haplotypes in primary biliary cirrhosis. Clin Gastroenterol Hepatol 2007; 5: 755-760
26. Juran BD, Atkinson EJ, Schlicht EM et al. Primary biliary cirrhosis is associated with a genetic variant in the 3′ flanking region of the CTLA4 gene. Gastroenterology 2008; 135: 1200-1206
27. Walker EJ, Hirschfield GM, Xu C et al. CTLA4/ICOS gene variants and haplotypes are associated with rheumatoid arthritis and primary biliary cirrhosis in the Canadian population. Arthritis Rheum 2009; 60: 931-937
28. Hirschfield GM, Liu X, Xu C et al. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. N Engl J Med 2009; 360: 2544-2555
29. Goriely S, Neurath MF, Goldman M. How microorganisms tip the balance between interleukin-12 family members. Nat Rev Immunol 2008; 8: 81-86
30. Hoeve MA, Savage ND, de BoerT et al. Divergent effects of IL-12 and IL-23 on the production of IL-17 by human T cells. Eur J Immunol 2006; 36: 661-670
31. Bergquist A, Montgomery SM, Bahmanyar S et al. Increased risk of primary sclerosing cholangitis and ulcerative colitis in first-degree relatives of patients with primary sclerosing cholangitis. Clin Gastroenterol Hepatol 2008; 6: 939-943
32. Karben TH, Franke A, Melum E et al. Genome-wide association analysis in primary sclerosing cholangitis. Gastroenterology 2009; [epub ahead of print]
33. Zeuzem S. Interferon-based therapy for chronic hepatitis C: current and future perspectives. Nat Clin Pract Gastroenterol Hepatol 2008; 5: 610-622
34. Ge D, Fellay J, Thompson AJ et al. Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance. Nature 2009; 461: 399-401
35. Suppiah V, Moldovan M, Ahlenstiel G et al. IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin therapy. Nat Genet 2009; 41: 1100-1104
36. Tanaka Y, Nishida N, Sugiyama M et al. Genome-wide association of IL28B with response to pegylated interferon-alpha and ribavirin therapy for chronic hepatitis C Nat Genet 2009; 41: 1105-1109
37. Thomas DL, Thio CL, Martin MP et al. Genetic variation in IL28B and spontaneous clearance of hepatitis C virus. Nature 2009; 461: 798-801
38. Friedman SL. Mechanisms of hepatic fibrogenesis. Gastroenterology 2008; 134: 1655-1669
39. Poynard T, Bedossa P, Opolon P. Natural history of liver fibrosis progression in patients with chronic hepatitis C. The OBSVIRC, METAVIR, CLINIVIR, and DOSVIRC groups. Lancet 1997; 349: 825-832
40. Weber S, Gressner OA, Hall R et al. Genetic determinants in hepatic fibrosis: from experimental models to fibrogenic gene signatures in humans. Clin Liver Dis 2008; 12: 747-757
41. Wright M, Goldin R, Fabre A et al. Measurement and determinants of the natural history of liver fibrosis in hepatitis C virus infection: a cross sectional and longitudinal study. Gut 2003; 52: 574-579
42. Peters LL, Robledo RF, Bult CJ et al. The mouse as a model for human biology: a resource guide for complex trait analysis. Nat Rev Genet 2007; 8: 58-69
43. Muriel P, Escobar Y. Kupffer cells are responsible for liver cirrhosis induced by carbon tetrachloride. J Appl Toxicol 2003; 23: 103-108
44. Hillebrandt S, Goos C, Matern S et al. Genome-wide analysis of hepatic fibrosis in inbred mice identifies the susceptibility locus Hfib1 on chromosome 15. Gastroenterology 2002; 123: 2041-2051
45. Hillebrandt S, Matern S, Lammert F. Mouse models for genetic dissection of polygenic gastrointestinal diseases. Eur J Clin Invest 2003; 33: 155-160
46. Hillebrandt S, Wasmuth HE, Weiskirchen R et al. Complement factor 5 is a quantitative trait gene that modifies liver fibrogenesis in mice and humans. Nat Genet 2005; 37: 835-843
47. Flint J, Valdar W, Shifman S et al. Strategies for mapping and cloning quantitative trait genes in rodents. Nat Rev Genet 2005; 6: 271-286
48. Schughart K, Churchill G. 6th annual meeting of the Complex Trait Consortium. Mamm Genome 2007; 18: 683-685
49. Peirce JL, Lu L, Gu J et al. A new set of BXD recombinant inbred lines from advanced intercross populations in mice. BMC Genet 2004; 5: 7
50. Wasmuth HE, Lammert F, Zaldivar MM et al. Antifibrotic effects of CXCL9 and its receptor CXCR3 in livers of mice and humans. Gastroenterology 2009; 137: 309-319, 319
51. Lammert F, Carey MC, Paigen B. Chromosomal organization of candidate genes involved in cholesterol gallstone formation: a murine gallstone map. Gastroenterology 2001; 120: 221-238
52. Figge A, Matern S, Lammert F. Molekulargenetik der Cholesterin-Cholelithiasis: Identifizierung humaner und muriner Gallensteingene. Z Gastroenterol 2002; 40: 425-432
53. Huang H, Shiffman ML, Friedman S et al. A 7 gene signature identifies the risk of developing cirrhosis in patients with chronic hepatitis C. Hepatology 2007; 46: 297-306
54. Marcolongo M, Young B, Dal Pero F et al. A seven-gene signature (cirrhosis risk score) predicts liver fibrosis progression in patients with initially mild chronic hepatitis C. Hepatology 2009; 50: 1038-1044
55. Yuan X, Waterworth D, Perry JR et al. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am J Hum Genet 2008; 83: 520-528
56. Melzer D, Perry JR, Hernandez D et al. A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet 2008; 4: e1000072
57. Dixon AL, Liang L, Moffatt MF et al. A genome-wide association study of global gene expression. Nat Genet 2007; 39: 1202-1207
58. Sanna S, Busonero F, Maschio A et al. Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. Hum Mol Genet 2009; 18: 2711-2718
59. Lin JP, Schwaiger JP, Cupples LA et al. Conditional linkage and genome-wide association studies identify UGT1A1 as a major gene for anti-atherogenic serum bilirubin levels - the Framingham Heart Study. Atherosclerosis 2009; 206: 228-233
60. Huang H, Shiffman ML, Cheung RC et al. Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C. Gastroenterology 2006; 130: 1679-1687
61. Guo J, Loke J, Zheng F et al. Functional linkage of cirrhosis-predictive single nucleotide polymorphisms of Toll-like receptor 4 to hepatic stellate cell responses. Hepatology 2009; 49: 960-968
62. Li Y, Chang M, Abar O et al. Multiple variants in toll-like receptor 4 gene modulate risk of liver fibrosis in Caucasians with chronic hepatitis C infection. J Hepatol 2009; 51: 750-757
63. Cervino AC, Darvasi A, Fallahi M et al. An integrated in silico gene mapping strategy in inbred mice. Genetics 2007; 175: 321-333
64. Wittenburg H, Lyons MA Li R et al. FXR and ABCG5/ABCG8 as determinants of cholesterol gallstone formation from quantitative trait locus mapping in mice. Gastroenterology 2003; 125: 868-881
65. Wittenburg H, Lyons MA, Li R et al. Association of a lithogenic Abcg5/ Abcg8 allele on Chromosome 17 (Lith9) with cholesterol gallstone formation in PERA/EiJ mice. Mamm Genome 2005; 16: 495-504