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Literature DB >> 18685559

Variation near complement factor I is associated with risk of advanced AMD.

Jesen A Fagerness¹, Julian B Maller, Benjamin M Neale, Robyn C Reynolds, Mark J Daly, Johanna M Seddon.

Abstract

A case-control association study for advanced age-related macular degeneration was conducted to explore several regions of interest identified by linkage. This analysis identified a single nucleotide polymorphism just 3' of complement factor I on chromosome 4 showing significant association (P<10(-7)). Sequencing was performed on coding exons in linkage disequilibrium with the detected association. No obvious functional variation was discovered that could be the proximate cause of the association, suggesting a noncoding regulatory mechanism.

Entities: Disease Gene

Mesh：

Substances：

Year: 2008 PMID： 18685559 PMCID： PMC2985963 DOI： 10.1038/ejhg.2008.140

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

24 in total

1. The value of gene-based selection of tag SNPs in genome-wide association studies.

Authors: Steven Wiltshire; Paul I W de Bakker; Mark J Daly
Journal: Eur J Hum Genet Date: 2006-06-28 Impact factor: 4.246

2. Estimation of the multiple testing burden for genomewide association studies of nearly all common variants.

Authors: Itsik Pe'er; Roman Yelensky; David Altshuler; Mark J Daly
Journal: Genet Epidemiol Date: 2008-05 Impact factor: 2.135

3. PLINK: a tool set for whole-genome association and population-based linkage analyses.

Authors: Shaun Purcell; Benjamin Neale; Kathe Todd-Brown; Lori Thomas; Manuel A R Ferreira; David Bender; Julian Maller; Pamela Sklar; Paul I W de Bakker; Mark J Daly; Pak C Sham
Journal: Am J Hum Genet Date: 2007-07-25 Impact factor: 11.025

4. Variation in complement factor 3 is associated with risk of age-related macular degeneration.

Authors: Julian B Maller; Jesen A Fagerness; Robyn C Reynolds; Benjamin M Neale; Mark J Daly; Johanna M Seddon
Journal: Nat Genet Date: 2007-09-02 Impact factor: 38.330

5. Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.

Authors: Julian Maller; Sarah George; Shaun Purcell; Jes Fagerness; David Altshuler; Mark J Daly; Johanna M Seddon
Journal: Nat Genet Date: 2006-08-27 Impact factor: 38.330

Review 6. The role of complement system in ocular diseases including uveitis and macular degeneration.

Authors: Purushottam Jha; Puran S Bora; Nalini S Bora
Journal: Mol Immunol Date: 2007-09 Impact factor: 4.407

7. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

Authors: Richa Saxena; Benjamin F Voight; Valeriya Lyssenko; Noël P Burtt; Paul I W de Bakker; Hong Chen; Jeffrey J Roix; Sekar Kathiresan; Joel N Hirschhorn; Mark J Daly; Thomas E Hughes; Leif Groop; David Altshuler; Peter Almgren; Jose C Florez; Joanne Meyer; Kristin Ardlie; Kristina Bengtsson Boström; Bo Isomaa; Guillaume Lettre; Ulf Lindblad; Helen N Lyon; Olle Melander; Christopher Newton-Cheh; Peter Nilsson; Marju Orho-Melander; Lennart Råstam; Elizabeth K Speliotes; Marja-Riitta Taskinen; Tiinamaija Tuomi; Candace Guiducci; Anna Berglund; Joyce Carlson; Lauren Gianniny; Rachel Hackett; Liselotte Hall; Johan Holmkvist; Esa Laurila; Marketa Sjögren; Maria Sterner; Aarti Surti; Margareta Svensson; Malin Svensson; Ryan Tewhey; Brendan Blumenstiel; Melissa Parkin; Matthew Defelice; Rachel Barry; Wendy Brodeur; Jody Camarata; Nancy Chia; Mary Fava; John Gibbons; Bob Handsaker; Claire Healy; Kieu Nguyen; Casey Gates; Carrie Sougnez; Diane Gage; Marcia Nizzari; Stacey B Gabriel; Gung-Wei Chirn; Qicheng Ma; Hemang Parikh; Delwood Richardson; Darrell Ricke; Shaun Purcell
Journal: Science Date: 2007-04-26 Impact factor: 47.728

8. Genome-wide association study identifies novel breast cancer susceptibility loci.

Authors: Douglas F Easton; Karen A Pooley; Alison M Dunning; Paul D P Pharoah; Deborah Thompson; Dennis G Ballinger; Jeffery P Struewing; Jonathan Morrison; Helen Field; Robert Luben; Nicholas Wareham; Shahana Ahmed; Catherine S Healey; Richard Bowman; Kerstin B Meyer; Christopher A Haiman; Laurence K Kolonel; Brian E Henderson; Loic Le Marchand; Paul Brennan; Suleeporn Sangrajrang; Valerie Gaborieau; Fabrice Odefrey; Chen-Yang Shen; Pei-Ei Wu; Hui-Chun Wang; Diana Eccles; D Gareth Evans; Julian Peto; Olivia Fletcher; Nichola Johnson; Sheila Seal; Michael R Stratton; Nazneen Rahman; Georgia Chenevix-Trench; Stig E Bojesen; Børge G Nordestgaard; Christen K Axelsson; Montserrat Garcia-Closas; Louise Brinton; Stephen Chanock; Jolanta Lissowska; Beata Peplonska; Heli Nevanlinna; Rainer Fagerholm; Hannaleena Eerola; Daehee Kang; Keun-Young Yoo; Dong-Young Noh; Sei-Hyun Ahn; David J Hunter; Susan E Hankinson; David G Cox; Per Hall; Sara Wedren; Jianjun Liu; Yen-Ling Low; Natalia Bogdanova; Peter Schürmann; Thilo Dörk; Rob A E M Tollenaar; Catharina E Jacobi; Peter Devilee; Jan G M Klijn; Alice J Sigurdson; Michele M Doody; Bruce H Alexander; Jinghui Zhang; Angela Cox; Ian W Brock; Gordon MacPherson; Malcolm W R Reed; Fergus J Couch; Ellen L Goode; Janet E Olson; Hanne Meijers-Heijboer; Ans van den Ouweland; André Uitterlinden; Fernando Rivadeneira; Roger L Milne; Gloria Ribas; Anna Gonzalez-Neira; Javier Benitez; John L Hopper; Margaret McCredie; Melissa Southey; Graham G Giles; Chris Schroen; Christina Justenhoven; Hiltrud Brauch; Ute Hamann; Yon-Dschun Ko; Amanda B Spurdle; Jonathan Beesley; Xiaoqing Chen; Arto Mannermaa; Veli-Matti Kosma; Vesa Kataja; Jaana Hartikainen; Nicholas E Day; David R Cox; Bruce A J Ponder
Journal: Nature Date: 2007-06-28 Impact factor: 49.962

9. Genomewide association analysis of coronary artery disease.

Authors: Nilesh J Samani; Jeanette Erdmann; Alistair S Hall; Christian Hengstenberg; Massimo Mangino; Bjoern Mayer; Richard J Dixon; Thomas Meitinger; Peter Braund; H-Erich Wichmann; Jennifer H Barrett; Inke R König; Suzanne E Stevens; Silke Szymczak; David-Alexandre Tregouet; Mark M Iles; Friedrich Pahlke; Helen Pollard; Wolfgang Lieb; Francois Cambien; Marcus Fischer; Willem Ouwehand; Stefan Blankenberg; Anthony J Balmforth; Andrea Baessler; Stephen G Ball; Tim M Strom; Ingrid Braenne; Christian Gieger; Panos Deloukas; Martin D Tobin; Andreas Ziegler; John R Thompson; Heribert Schunkert
Journal: N Engl J Med Date: 2007-07-18 Impact factor: 91.245

10. Estimation of significance thresholds for genomewide association scans.

Authors: Frank Dudbridge; Arief Gusnanto
Journal: Genet Epidemiol Date: 2008-04 Impact factor: 2.135

179 in total

1. Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models.

Authors: Yi Yu; Robyn Reynolds; Bernard Rosner; Mark J Daly; Johanna M Seddon
Journal: Invest Ophthalmol Vis Sci Date: 2012-03-21 Impact factor: 4.799

Review 2. Complement dysregulation in AMD: RPE-Bruch's membrane-choroid.

Authors: Janet R Sparrow; Keiko Ueda; Jilin Zhou
Journal: Mol Aspects Med Date: 2012-04-05

Review 3. How does the macula protect itself from oxidative stress?

Authors: James T Handa
Journal: Mol Aspects Med Date: 2012-04-05

Review 4. Current gene discovery strategies for ocular conditions.

Authors: Priya Duggal; Grace Ibay; Alison P Klein
Journal: Invest Ophthalmol Vis Sci Date: 2011-09-29 Impact factor: 4.799

5. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

Authors: Wei Chen; Dwight Stambolian; Albert O Edwards; Kari E Branham; Mohammad Othman; Johanna Jakobsdottir; Nirubol Tosakulwong; Margaret A Pericak-Vance; Peter A Campochiaro; Michael L Klein; Perciliz L Tan; Yvette P Conley; Atsuhiro Kanda; Laura Kopplin; Yanming Li; Katherine J Augustaitis; Athanasios J Karoukis; William K Scott; Anita Agarwal; Jaclyn L Kovach; Stephen G Schwartz; Eric A Postel; Matthew Brooks; Keith H Baratz; William L Brown; Alexander J Brucker; Anton Orlin; Gary Brown; Allen Ho; Carl Regillo; Larry Donoso; Lifeng Tian; Brian Kaderli; Dexter Hadley; Stephanie A Hagstrom; Neal S Peachey; Ronald Klein; Barbara E K Klein; Norimoto Gotoh; Kenji Yamashiro; Frederick Ferris Iii; Jesen A Fagerness; Robyn Reynolds; Lindsay A Farrer; Ivana K Kim; Joan W Miller; Marta Cortón; Angel Carracedo; Manuel Sanchez-Salorio; Elizabeth W Pugh; Kimberly F Doheny; Maria Brion; Margaret M Deangelis; Daniel E Weeks; Donald J Zack; Emily Y Chew; John R Heckenlively; Nagahisa Yoshimura; Sudha K Iyengar; Peter J Francis; Nicholas Katsanis; Johanna M Seddon; Jonathan L Haines; Michael B Gorin; Gonçalo R Abecasis; Anand Swaroop
Journal: Proc Natl Acad Sci U S A Date: 2010-04-12 Impact factor: 11.205