Presentation is loading. Please wait.

Presentation is loading. Please wait.

Volume 151, Issue 2, Pages e28 (August 2016)

Similar presentations


Presentation on theme: "Volume 151, Issue 2, Pages e28 (August 2016)"— Presentation transcript:

1 Volume 151, Issue 2, Pages 351-363.e28 (August 2016)
Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome- Wide Association Studies  Amit D. Joshi, Charlotte Andersson, Stephan Buch, Stefan Stender, Raymond Noordam, Lu-Chen Weng, Peter E. Weeke, Paul L. Auer, Bernhard Boehm, Constance Chen, Hyon Choi, Gary Curhan, Joshua C. Denny, Immaculata De Vivo, John D. Eicher, David Ellinghaus, Aaron R. Folsom, Charles Fuchs, Manish Gala, Jeffrey Haessler, Albert Hofman, Frank Hu, David J. Hunter, Harry L.A. Janssen, Jae H. Kang, Charles Kooperberg, Peter Kraft, Wolfgang Kratzer, Wolfgang Lieb, Pamela L. Lutsey, Sarwa Darwish Murad, Børge G. Nordestgaard, Louis R. Pasquale, Alex P. Reiner, Paul M. Ridker, Eric Rimm, Lynda M. Rose, Christian M. Shaffer, Clemens Schafmayer, Rulla M. Tamimi, André G. Uitterlinden, Uwe Völker, Henry Völzke, Yoshiyuki Wakabayashi, Janey L. Wiggs, Jun Zhu, Dan M. Roden, Bruno H. Stricker, Weihong Tang, Alexander Teumer, Jochen Hampe, Anne Tybjærg-Hansen, Daniel I. Chasman, Andrew T. Chan, Andrew D. Johnson  Gastroenterology  Volume 151, Issue 2, Pages e28 (August 2016) DOI: /j.gastro Copyright © 2016 AGA Institute Terms and Conditions

2 Figure 1 Manhattan plot of the results of genome-wide meta-analysis of gallstone disease in 10 studies. The plot shows –log10-transformed P values for all SNPs. The red horizontal line represents a P value of 5 × The blue horizontal line represents a P value of 1 × 10-5. Gastroenterology  , e28DOI: ( /j.gastro ) Copyright © 2016 AGA Institute Terms and Conditions

3 Figure 2 Forest plots of meta-analyses of genome-wide significant SNPs in each of the discovery and replication data sets. (A) Fixed-effects meta-analysis: rs (B) Random-effects meta-analysis: rs (C) Fixed-effects meta-analysis: rs (D) Fixed-effects meta-analysis: rs (E) Random-effects meta-analysis: rs (F) Fixed-effects meta-analysis: rs Gastroenterology  , e28DOI: ( /j.gastro ) Copyright © 2016 AGA Institute Terms and Conditions

4 Figure 3 The possible role of novel susceptibility loci in gallstone formation. Gastroenterology  , e28DOI: ( /j.gastro ) Copyright © 2016 AGA Institute Terms and Conditions

5 Supplementary Figure 1 Flow chart of study cohorts and methods in the discovery and replication stages. GCTA, Genome-wide complex trait analysis; LD, linkage disequilibrium. Gastroenterology  , e28DOI: ( /j.gastro ) Copyright © 2016 AGA Institute Terms and Conditions

6 Supplementary Figure 2 Quantile-Quantile plot of gallstone disease GWAS meta-analysis. Gastroenterology  , e28DOI: ( /j.gastro ) Copyright © 2016 AGA Institute Terms and Conditions

7 Supplementary Figure 3 Regional association plots for discovered loci in GWAS meta-analysis. (A) ABCG8 locus, (B) CYP7A1 locus, (C) GCKR locus, (D) TM4SF4 locus, and (E) SULT2A1 locus. Gastroenterology  , e28DOI: ( /j.gastro ) Copyright © 2016 AGA Institute Terms and Conditions

8 Supplementary Figure 4 Receiver operator characteristic plots in replication studies. (A) Kiel study (total), (B) women in the Kiel study, (C) men in the Kiel study, (D) NHS replication study, and (E) HPFS replication study. Gastroenterology  , e28DOI: ( /j.gastro ) Copyright © 2016 AGA Institute Terms and Conditions

9 Supplementary Figure 5 RNA sequencing results from gallbladder and liver from chronic gallstones case and normal gallbladders. Comparison of reads per kilobase of transcript per million (RPKM) values for expressed genes in chronic gallstone gallbladder vs chronic gallstone liver (left panel) and chronic gallstone gallbladder vs normal (nongallstones) gallbladder. The point corresponding to TM4SF4 expression is indicated. The following genes were excluded from the plots because of their high RPKM values: MTRNR2L8, ALB, and APOA2. Gastroenterology  , e28DOI: ( /j.gastro ) Copyright © 2016 AGA Institute Terms and Conditions


Download ppt "Volume 151, Issue 2, Pages e28 (August 2016)"

Similar presentations


Ads by Google