A Frequent PNPLA3 Variant Is a Sex Specific Disease Modifier in PSC Patients with Bile Duct Stenosis

PLoS ONE

Volumn 8, Issue 3, 2013, Pages

  Friedrich, Kilian ^a   Rupp, Christian ^a   Hov, Johannes Roksund ^b,c   Steinebrunner, Niels ^a   Weiss, Karl Heinz ^a   Stiehl, Adolf ^a   Brune, Maik ^a   Schaefer, Petra Kloeters Yvonne ^e   Schemmer, Peter ^a   Sauer, Peter ^a   Schirmacher, Peter ^a   Runz, Heiko ^a   Karlsen, Tom Hemming ^b,d   Stremmel, Wolfgang ^a   Gotthardt, Daniel Nils ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF OSLO   (Norway)

^d UNIVERSITY OF BERGEN   (Norway)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANIMAL TISSUE; ARTICLE; CHOLESTASIS; COHORT ANALYSIS; CONTROLLED STUDY; ENDOSCOPIC SURGERY; ETHNIC GROUP; FEMALE; GENE; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC VARIABILITY; GERMAN; HUMAN; LIVER TRANSPLANTATION; MAJOR CLINICAL STUDY; MALE; MOUSE; NONHUMAN; NORWEGIAN; PNPLA3 GENE; PRIMARY SCLEROSING CHOLANGITIS; PROGNOSIS; PROSPECTIVE STUDY; RISK ASSESSMENT; SEX DIFFERENCE; SURVIVAL PREDICTION; SURVIVAL RATE; SURVIVAL TIME;

ADULT; ALLELES; ANIMALS; BILE DUCTS; CHOLANGITIS, SCLEROSING; CHOLESTASIS; CONSTRICTION, PATHOLOGIC; FEMALE; GENE FREQUENCY; GENETIC VARIATION; GENOTYPE; HUMANS; LIPASE; MALE; MEMBRANE PROTEINS; MICE; MIDDLE AGED; NORWAY; POLYMORPHISM, GENETIC; PROSPECTIVE STUDIES; SEX FACTORS; YOUNG ADULT;

EID: 84874680750     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0058734     Document Type: Article

References (22)

1. Chapman R, Fevery J, Kalloo A, Nagorney DM, Boberg KM, et al. (2010) Diagnosis and management of primary sclerosing cholangitis. Hepatology 51: 660-678.
2. Pollheimer MJ, Halilbasic E, Fickert P, Trauner M, (2011) Pathogenesis of primary sclerosing cholangitis. Best Pract Res Clin Gastroenterol 25: 727-739.
3. Boonstra K, Beuers U, Ponsioen CY (2012) Epidemiology of primary sclerosing cholangitis and primary biliary cirrhosis: A systematic review. J Hepatol.
4. Tischendorf JJ, Hecker H, Kruger M, Manns MP, Meier PN, (2007) Characterization, outcome, and prognosis in 273 patients with primary sclerosing cholangitis: A single center study. Am J Gastroenterol 102: 107-114.
5. Bambha K, Kim WR, Talwalkar J, Torgerson H, Benson JT, et al. (2003) Incidence, clinical spectrum, and outcomes of primary sclerosing cholangitis in a United States community. Gastroenterology 125: 1364-1369.
6. Rudolph G, Gotthardt D, Kloters-Plachky P, Kulaksiz H, Rost D, et al. (2009) Influence of dominant bile duct stenoses and biliary infections on outcome in primary sclerosing cholangitis. J Hepatol 51: 149-155.
7. Bergquist A, Lindberg G, Saarinen S, Broome U, (2005) Increased prevalence of primary sclerosing cholangitis among first-degree relatives. J Hepatol 42: 252-256.
8. Karlsen TH, Franke A, Melum E, Kaser A, Hov JR, et al. (2010) Genome-wide association analysis in primary sclerosing cholangitis. Gastroenterology 138: 1102-1111.
9. Melum E, Franke A, Schramm C, Weismuller TJ, Gotthardt DN, et al. (2011) Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. Nat Genet 43: 17-19.
10. Wilson PA, Gardner SD, Lambie NM, Commans SA, Crowther DJ, (2006) Characterization of the human patatin-like phospholipase family. J Lipid Res 47: 1940-1949.
11. Kumari M, Schoiswohl G, Chitraju C, Paar M, Cornaciu I, et al. (2012) Adiponutrin functions as a nutritionally regulated lysophosphatidic Acid acyltransferase. Cell Metab 15: 691-702.
12. Liu YM, Moldes M, Bastard JP, Bruckert E, Viguerie N, et al. (2004) Adiponutrin: A new gene regulated by energy balance in human adipose tissue. J Clin Endocrinol Metab 89: 2684-2689.
13. Romeo S, Kozlitina J, Xing C, Pertsemlidis A, Cox D, et al. (2008) Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet 40: 1461-1465.
14. Sookoian S, Pirola CJ, (2011) Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 gene (PNPLA3) on the susceptibility and histological severity of nonalcoholic fatty liver disease. Hepatology 53: 1883-1894.
15. Rotman Y, Koh C, Zmuda JM, Kleiner DE, Liang TJ, (2010) The association of genetic variability in patatin-like phospholipase domain-containing protein 3 (PNPLA3) with histological severity of nonalcoholic fatty liver disease. Hepatology 52: 894-903.
16. Li Q, Qu HQ, Rentfro AR, Grove ML, Mirza S, et al. (2012) PNPLA3 Polymorphisms and Liver Aminotransferase Levels in a Mexican American Population. Clin Invest Med 35: E237.
17. Gotthardt DN, Rudolph G, Kloters-Plachky P, Kulaksiz H, Stiehl A, (2010) Endoscopic dilation of dominant stenoses in primary sclerosing cholangitis: outcome after long-term treatment. Gastrointest Endosc 71: 527-534.
18. Storm N, Darnhofer-Patel B, van den Boom D, Rodi CP, (2003) MALDI-TOF mass spectrometry-based SNP genotyping. Methods Mol Biol 212: 241-262.
19. De la Vega FM, Lazaruk KD, Rhodes MD, Wenz MH, (2005) Assessment of two flexible and compatible SNP genotyping platforms: TaqMan SNP Genotyping Assays and the SNPlex Genotyping System. Mutat Res 573: 111-135.
20. Lazaridis KN, Gores GJ, (2006) Primary sclerosing cholangitis and cholangiocarcinoma. Semin Liver Dis 26: 42-51.
21. Tian C, Stokowski RP, Kershenobich D, Ballinger DG, Hinds DA, (2010) Variant in PNPLA3 is associated with alcoholic liver disease. Nat Genet 42: 21-23.
22. Huang Y, He S, Li JZ, Seo YK, Osborne TF, et al. (2010) A feed-forward loop amplifies nutritional regulation of PNPLA3. Proc Natl Acad Sci U S A 107: 7892-7897.