Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci

Journal of Hepatology

Volumn 57, Issue 2, 2012, Pages 366-375

  Folseraas, Trine ^a,b   Melum, Espen ^a,b   Rausch, Philipp ^c,d   Juran, Brian D ^e   Ellinghaus, Eva ^c   Shiryaev, Alexey ^a,b   Laerdahl, Jon K ^a,f   Ellinghaus, David ^c   Schramm, Christoph ^g   Weismüller, Tobias J ^h   Gotthardt, Daniel Nils ⁱ   Hov, Johannes Roksund ^a,b   Clausen, Ole Petter ^a,b   Weersma, Rinse K ^j   Janse, Marcel ^j   Boberg, Kirsten Muri ^a   Björnsson, Einar ^k   Marschall, Hanns Ulrich ^k   Cleynen, Isabelle ^l   Rosenstiel, Philip ^c   Holm, Kristian ^a   Teufel, Andreas ^m   Rust, Christian ⁿ   Gieger, Christian ^o   Wichmann, H Erich ^n,o,p   Bergquist, Annika ^q   Ryu, Euijung ^r   Ponsioen, Cyriel Y ^s   Runz, Heiko ⁱ   Sterneck, Martina ^g   Vermeire, Severine ^l   Beuers, Ulrich ^s   Wijmenga, Cisca ^j   Schrumpf, Erik ^a,b   Manns, Michael P ^h   Lazaridis, Konstantinos N ^e   Schreiber, Stefan ^c   Baines, John F ^c,d   Franke, Andre ^c   Karlsen, Tom H ^a,t   more..

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

^c UNIVERSITY OF KIEL   (Germany)

^d MAX PLANCK INSTITUTE FOR EVOLUTIONARY BIOLOGY   (Germany)

^e MAYO CLINIC   (United States)

^f UNIVERSITY OF OSLO   (Norway)

^g UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^h HANNOVER MEDICAL SCHOOL   (Germany)

ⁱ UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^j UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^k SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^l UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^m JOHANNES GUTENBERG UNIVERSITY   (Germany)

ⁿ UNIVERSITY OF MUNICH   (Germany)

^o INSTITUTE OF EPIDEMIOLOGY   (Germany)

^p LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^q KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^r Mayo Clinic   (United States)

^s UNIVERSITY OF AMSTERDAM   (Netherlands)

^t UNIVERSITY OF BERGEN   (Norway)

more..

Author keywords

Genome wide association study; Immunogenetics; Primary sclerosing cholangitis; Single nucleotide polymorphism

Indexed keywords

FUT2 PROTEIN; HERPESVIRUS ENTRY MEDIATOR; MMEL1 PROTEIN; PROTEIN; RNA 16S; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME 19Q; CHROMOSOME 1P; CONTROLLED STUDY; CROHN DISEASE; FEMALE; FOLLOW UP; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; GERMANY; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROBIAL COMMUNITY; PHENOTYPE; PRIMARY SCLEROSING CHOLANGITIS; PRIORITY JOURNAL; RNA SEQUENCE; SCANDINAVIA; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; ULCERATIVE COLITIS;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BILE; CHILD; CHILD, PRESCHOOL; CHOLANGITIS, SCLEROSING; FEMALE; FUCOSYLTRANSFERASES; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; NEPRILYSIN; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, TUMOR NECROSIS FACTOR, MEMBER 14; RISK;

EID: 84863981813     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jhep.2012.03.031     Document Type: Article

References (36)

1. T.H. Karlsen, E. Schrumpf, and K.M. Boberg Update on primary sclerosing cholangitis Dig Liver Dis 42 2010 390 400
2. S. Saarinen, O. Olerup, and U. Broome Increased frequency of autoimmune diseases in patients with primary sclerosing cholangitis Am J Gastroenterol 95 2000 3195 3199
3. E. Melum, A. Franke, C. Schramm, T.J. Weismuller, D.N. Gotthardt, and F.A. Offner Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci Nat Genet 43 2011 17 19
4. T.H. Karlsen, A. Franke, E. Melum, A. Kaser, J.R. Hov, and T. Balschun Genome-wide association analysis in primary sclerosing cholangitis Gastroenterology 138 2010 1102 1111
5. M. Janse, L.E. Lamberts, L. Franke, S. Raychaudhuri, E. Ellinghaus, and K. Muri Boberg Three ulcerative colitis susceptibility loci are associated with primary sclerosing cholangitis and indicate a role for IL2, REL, and CARD9 Hepatology 53 2011 1977 1985
6. J. Stallhofer, G.U. Denk, J. Glas, R.P. Laubender, B. Goke, and C. Rust Analysis of IL2/IL21 Gene Variants in Cholestatic Liver Diseases Reveals an Association with Primary Sclerosing Cholangitis Digestion 84 2011 29 35
7. G. Trynka, A. Zhernakova, J. Romanos, L. Franke, K.A. Hunt, and G. Turner Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling Gut 58 2009 1078 1083
8. A.L. Price, N.J. Patterson, R.M. Plenge, M.E. Weinblatt, N.A. Shadick, and D. Reich Principal components analysis corrects for stratification in genome-wide association studies Nat Genet 38 2006 904 909
9. S. Purcell, B. Neale, K. Todd-Brown, L. Thomas, M.A. Ferreira, and D. Bender PLINK: a tool set for whole-genome association and population-based linkage analyses Am J Hum Genet 81 2007 559 575
10. R.J. Pruim, R.P. Welch, S. Sanna, T.M. Teslovich, P.S. Chines, and T.P. Gliedt LocusZoom: regional visualization of genome-wide association scan results Bioinformatics 26 2010 2336 2337
11. P. Rausch, A. Rehman, S. Kunzel, R. Hasler, S.J. Ott, and S. Schreiber Colonic mucosa-associated microbiota is influenced by an interaction of Crohn disease and FUT2 (Secretor) genotype Proc Natl Acad Sci U S A 108 2011 19030 19035
12. J.N. Hirschhorn, and M.J. Daly Genome-wide association studies for common diseases and complex traits Nat Rev Genet 6 2005 95 108
13. R.J. Kelly, S. Rouquier, D. Giorgi, G.G. Lennon, and J.B. Lowe Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype J Biol Chem 270 1995 4640 4649
14. G.M. Hirschfield, X. Liu, Y. Han, I.P. Gorlov, Y. Lu, and C. Xu Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis Nat Genet 42 2010 655 657
15. M.W. Steinberg, J.W. Shui, C.F. Ware, and M. Kronenberg Regulating the mucosal immune system: the contrasting roles of LIGHT, HVEM, and their various partners Semin Immunopathol 31 2009 207 221
16. J.R. Sedy, M. Gavrieli, K.G. Potter, M.A. Hurchla, R.C. Lindsley, and K. Hildner B and T lymphocyte attenuator regulates T cell activation through interaction with herpesvirus entry mediator Nat Immunol 6 2005 90 98
17. Y. Oya, N. Watanabe, T. Owada, M. Oki, K. Hirose, and A. Suto Development of autoimmune hepatitis-like disease and production of autoantibodies to nuclear antigens in mice lacking B and T lymphocyte attenuator Arthritis Rheum 58 2008 2498 2510
18. R.W. Chapman, B.A. Arborgh, J.M. Rhodes, J.A. Summerfield, R. Dick, and P.J. Scheuer Primary sclerosing cholangitis: a review of its clinical features, cholangiography, and hepatic histology Gut 21 1980 870 877
19. D.P. McGovern, M.R. Jones, K.D. Taylor, K. Marciante, X. Yan, and M. Dubinsky Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease Hum Mol Genet 19 2010 3468 3476
20. A. Mentis, C.C. Blackwell, D.M. Weir, C. Spiliadis, A. Dailianas, and N. Skandalis ABO blood group, secretor status and detection of Helicobacter pylori among patients with gastric or duodenal ulcers Epidemiol Infect 106 1991 221 229
21. L. Svensson, A. Petersson, and S.M. Henry Secretor genotyping for A385T, G428A, C571T, C628T, 685delTGG, G849A, and other mutations from a single PCR Transfusion (Paris) 40 2000 856 860
22. J. Serpa, N. Mendes, C.A. Reis, L.F. Santos Silva, R. Almeida, and J. Le Pendu Two new FUT2 (fucosyltransferase 2 gene) missense polymorphisms, 739G- > A and 839T- > C, are partly responsible for non-secretor status in a Caucasian population from Northern Portugal Biochem J 383 2004 469 474
23. L.M. Silva, A.S. Carvalho, P. Guillon, S. Seixas, M. Azevedo, and R. Almeida Infection-associated FUT2 (Fucosyltransferase 2) genetic variation and impact on functionality assessed by in vivo studies Glycoconj J 27 2010 61 68
24. H. Hakonarson, S.F. Grant, J.P. Bradfield, L. Marchand, C.E. Kim, and J.T. Glessner A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene Nature 448 2007 591 594
25. U. Svajger, M. Anderluh, M. Jeras, and N. Obermajer C-type lectin DC-SIGN: an adhesion, signalling and antigen-uptake molecule that guides dendritic cells in immunity Cell Signal 22 2010 1397 1405
26. A. Karrar, U. Broome, T. Sodergren, M. Jaksch, A. Bergquist, and M. Bjornstedt Biliary epithelial cell antibodies link adaptive and innate immune responses in primary sclerosing cholangitis Gastroenterology 132 2007 1504 1514
27. G. Jedlitschky, and D. Keppler Transport of leukotriene C4 and structurally related conjugates Vitam Horm 64 2002 153 184
28. D. Mistry, and R.A. Stockley Gamma-glutamyl transferase: the silent partner? Copd 7 2010 285 290
29. A.D. Johnson, M. Kavousi, A.V. Smith, M.H. Chen, A. Dehghan, and T. Aspelund Genome-wide association meta-analysis for total serum bilirubin levels Hum Mol Genet 18 2009 2700 2710
30. X. Yuan, D. Waterworth, J.R. Perry, N. Lim, K. Song, and J.C. Chambers Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes Am J Hum Genet 83 2008 520 528
31. T.H. Karlsen, and A. Kaser Deciphering the genetic predisposition to primary sclerosing cholangitis Semin Liver Dis 31 2011 188 207
32. H. Hara, and T. Saito CARD9 versus CARMA1 in innate and adaptive immunity Trends Immunol 30 2009 234 242
33. A. Zhernakova, C.C. van Diemen, and C. Wijmenga Detecting shared pathogenesis from the shared genetics of immune-related diseases Nat Rev Genet 10 2009 43 55
34. C.J. Willer, Y. Li, and G.R. Abecasis METAL: fast and efficient meta-analysis of genomewide association scans Bioinformatics 26 2010 2190 2191
35. A. Chao Estimating the population size for capture-recapture data with unequal catchability Biometrics 43 1987 783 791
36. D.P. Faith Conservation evaluation and phylogenetic diversity Biol Conserv 61 1992 1 10