Seven New Loci Associated with Age-Related Macular Degeneration

Gabriëlle H S Buitendijk | R. T. Smith | Chelsea E. Myers | C. Gieger | A. Uitterlinden | M. Daly | G. Abecasis | H. Stefánsson | U. Thorsteinsdóttir | K. Stefánsson | B. Yaspan | J. Haines | M. Pericak-Vance | J. Ioannidis | R. Klein | D. Weeks | Y. Kamatani | Y. Okada | D. Clayton | I. Chowers | T. Léveillard | J. Sahel | P. Campochiaro | D. Zack | P. Mitchell | Yusuke Nakamura | T. Wong | C. Duijn | G. Thorleifsson | Wei Chen | S. Harding | T. Meitinger | H. Wichmann | W. Scott | A. Edwards | L. Farrer | E. Chew | A. Agarwal | I. Heid | M. Lathrop | D. Zélénika | G. Hannum | C. V. van Duijn | A. Swaroop | Jie-Jin Wang | M. Kubo | Kristine E. Lee | B. Klein | P. Lichtner | B. Cornes | N. Katsanis | A. Bird | A. Wright | C. Keilhauer | S. Ripke | Wei Chen | E. Souied | L. Sobrin | W. Cade | R. Guymer | A. Naj | G. Jun | T. Winkler | Ching-Yu Cheng | X. Sim | T. Aung | E. Evangelou | J. Vingerling | L. Fritsche | M. Othman | B. Weber | M. Klein | J. Heckenlively | J. Friedman | A. Takahashi | Y. Conley | G. Hageman | J. Fagerness | J. Seddon | M. Gorin | I. Kozák | Ling Zhao | G. Hughes | S. Mohand-Said | E. Ryu | Y. Kiyohara | D. Schaumberg | E. Vithana | V. Cipriani | A. Webster | A. Moore | R. Allikmets | O. Poch | T. A. Sivakumaran | J. Yates | M. Morrison | M. DeAngelis | A. Brucker | B. Dhillon | P. Francis | S. Iyengar | L. Vijaya | R. George | G. Silvestri | D. Stambolian | K. Branham | A. Lotery | P. Baird | N. Peachey | H. Scholl | A. Orlin | C. Haritoglou | M. Brooks | S. Hagstrom | Ming Zhang | K. Park | C. Klaver | Kang Zhang | J. Merriam | G. Barile | Robyn C Reynolds | Yi Yu | A. Richardson | Kimberly A. Chin | H. Sigurdsson | J. Khan | H. Shahid | P. Bishop | A. Armbrecht | M. Schu | S. Arakawa | R. Igo | I. Audo | M. Benchaboune | M. Cain | Chi-Chao Chan | R. Cojocaru | H. Ferreyra | Asbjorg Geirsdottir | Neel A. Gupta | Frank G. Holz | T. Ishibashi | P. Joseph | Claudia N Keilhauer | Ivana K. Kim | Jaclyn L Kovach | Clara Lee | S. Mohand-Saïd | Denise J. Morgan | M. C. Ortube | C. Pappas | G. Pauer | Rinki Ratna Priya | R. Ripp | G. Rudolph | S. G. Schwartz | Gwen M. Sturgill-Short | N. Tosakulwong | B. Truitt | E. Tsironi | T. Wong | Ming Zhang | G. Lathrop | A. T. Moore | S. Mohand‐Saïd | Barbara J Truitt | B. Weber | T. Aung | C. Chan | Kang Zhang | Barbara J. Truitt | Lars G Wei Matthew Brian L Yi Gudmar Donald J Satoshi V Fritsche Chen Schu Yaspan Yu Thorleifsson Za | Hendrik P. N. Scholl | A. Geirsdottir | Kang Zhang | Kang Zhang | K. Zhang | Kang Zhang | Andrew R Webster | Jie Jin Wang | Ching-Yu Cheng | A. Wright | A. Moore | A. Uitterlinden | F. Holz | Barbara Truitt | Ling Zhao | M. Kubo | W. Scott | H. Scholl | T. Wong | Nirubol Tosakulwong | A. Wright | T. Wong | T. Wong | R. Klein | J. Haines | A. Wright | Tin Aung | Belinda K. Cornes | T. Wong

[1]  R Core Team,et al.  R: A language and environment for statistical computing. , 2014 .

[2]  Kenny Q. Ye,et al.  An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.

[3]  I. Deary,et al.  Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. , 2012, Human molecular genetics.

[4]  Colm O'Dushlaine,et al.  INRICH: interval-based enrichment analysis for genome-wide association studies , 2012, Bioinform..

[5]  Lars G Fritsche,et al.  Evidence of association of APOE with age‐related macular degeneration ‐ a pooled analysis of 15 studies , 2011, Human mutation.

[6]  A. Swaroop,et al.  Next-generation sequencing facilitates quantitative analysis of wild-type and Nrl−/− retinal transcriptomes , 2011, Molecular vision.

[7]  Johanna M Seddon,et al.  Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors. , 2011, Ophthalmology.

[8]  Sivakumar Gowrisankar,et al.  A rare penetrant mutation in CFH confers high risk of age-related macular degeneration , 2011, Nature Genetics.

[9]  Rajiv Raman,et al.  A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration , 2011, PloS one.

[10]  Yusuke Nakamura,et al.  Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population , 2011, Nature Genetics.

[11]  K. Nakashima,et al.  [The Rotterdam study]. , 2011, Nihon rinsho. Japanese journal of clinical medicine.

[12]  P. Sham,et al.  Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases , 2011, Genetic epidemiology.

[13]  Aaron Y. Lee,et al.  Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration , 2011, Human molecular genetics.

[14]  T. Wong,et al.  Relationship of smoking and cardiovascular risk factors with polypoidal choroidal vasculopathy and age-related macular degeneration in Chinese persons. , 2011, Ophthalmology.

[15]  Nicolas Leveziel,et al.  ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration. , 2011, American journal of ophthalmology.

[16]  C. Keilhauer,et al.  An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). , 2010, Human molecular genetics.

[17]  G. Abecasis,et al.  MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes , 2010, Genetic epidemiology.

[18]  T. Wong,et al.  Toll-Like Receptor 3 Polymorphism rs3775291 Is Not Associated with Choroidal Neovascularization or Polypoidal Choroidal Vasculopathy in Chinese Subjects , 2010, Ophthalmic Research.

[19]  D. Chasman,et al.  Prospective study of common variants in the retinoic acid receptor-related orphan receptor α gene and risk of neovascular age-related macular degeneration. , 2010, Archives of ophthalmology.

[20]  D. Altshuler,et al.  A map of human genome variation from population-scale sequencing , 2010, Nature.

[21]  Sharon R Grossman,et al.  Integrating common and rare genetic variation in diverse human populations , 2010, Nature.

[22]  Michael Boehnke,et al.  LocusZoom: regional visualization of genome-wide association scan results , 2010, Bioinform..

[23]  Yun Li,et al.  METAL: fast and efficient meta-analysis of genomewide association scans , 2010, Bioinform..

[24]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[25]  Aaron Y. Lee,et al.  Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC) , 2010, Proceedings of the National Academy of Sciences.

[26]  Margaret A. Pericak-Vance,et al.  Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration , 2010, Proceedings of the National Academy of Sciences.

[27]  Jake K. Byrnes,et al.  Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls , 2010 .

[28]  G. Abecasis,et al.  Transcriptome analysis and molecular signature of human retinal pigment epithelium , 2010, Human molecular genetics.

[29]  Fei Ji,et al.  Convergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: A systems biology based approach , 2010, Vision Research.

[30]  P. Bork,et al.  A method and server for predicting damaging missense mutations , 2010, Nature Methods.

[31]  D. Clayton,et al.  The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes , 2009, Nature Genetics.

[32]  D. Clayton,et al.  Genome-wide association study and meta-analysis finds over 40 loci affect risk of type 1 diabetes , 2009, Nature Genetics.

[33]  Yurii S. Aulchenko,et al.  ProbABEL package for genome-wide association analysis of imputed data , 2010, BMC Bioinformatics.

[34]  P. Mitchell,et al.  Methodology of the Singapore Indian Chinese Cohort (SICC) Eye Study: Quantifying ethnic variations in the epidemiology of eye diseases in Asians , 2009, Ophthalmic epidemiology.

[35]  Judy H. Cho,et al.  Finding the missing heritability of complex diseases , 2009, Nature.

[36]  Anand Swaroop,et al.  Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. , 2009, Annual review of genomics and human genetics.

[37]  F. Collins,et al.  Potential etiologic and functional implications of genome-wide association loci for human diseases and traits , 2009, Proceedings of the National Academy of Sciences.

[38]  J. Todd,et al.  Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes , 2009, Science.

[39]  B. Browning,et al.  A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. , 2009, American journal of human genetics.

[40]  Gonçalo Abecasis,et al.  Genotype-imputation accuracy across worldwide human populations. , 2009, American journal of human genetics.

[41]  Monique M. B. Breteler,et al.  The Rotterdam Study: 2016 objectives and design update , 2015, European Journal of Epidemiology.

[42]  M. Daly,et al.  Variation near complement factor I is associated with risk of advanced AMD , 2009, European Journal of Human Genetics.

[43]  G. Abecasis,et al.  Genotype imputation. , 2009, Annual review of genomics and human genetics.

[44]  R. Collins,et al.  Common variants at 30 loci contribute to polygenic dyslipidemia , 2009, Nature Genetics.

[45]  S. Fisher,et al.  Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA , 2008, Nature Genetics.

[46]  Ivana K. Kim,et al.  Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. , 2008, Ophthalmology.

[47]  M. McCarthy,et al.  Genome-wide association studies for complex traits: consensus, uncertainty and challenges , 2008, Nature Reviews Genetics.

[48]  Pamela W. Smith.  The National Institutes of Health (NIH) , 2008 .

[49]  Ronnie George,et al.  Prevalence of primary angle-closure disease in an urban south Indian population and comparison with a rural population. The Chennai Glaucoma Study. , 2008, Ophthalmology.

[50]  Johanna M Seddon,et al.  Variation in complement factor 3 is associated with risk of age-related macular degeneration , 2007, Nature Genetics.

[51]  Manuel A. R. Ferreira,et al.  PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.

[52]  I. Deary,et al.  Complement C3 variant and the risk of age-related macular degeneration. , 2007, The New England journal of medicine.

[53]  P. Donnelly,et al.  A new multipoint method for genome-wide association studies by imputation of genotypes , 2007, Nature Genetics.

[54]  Simon C. Potter,et al.  Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls , 2007, Nature.

[55]  A. Lotery,et al.  Burden of illness, visual impairment and health resource utilisation of patients with neovascular age-related macular degeneration: results from the UK cohort of a five-country cross-sectional study , 2007, British Journal of Ophthalmology.

[56]  B. Rosner,et al.  Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. , 2007, JAMA.

[57]  Jens Dreyhaupt,et al.  Progression of geographic atrophy and impact of fundus autofluorescence patterns in age-related macular degeneration. , 2007, American journal of ophthalmology.

[58]  Paul Mitchell,et al.  Ten-year incidence and progression of age-related maculopathy: the blue Mountains Eye Study. , 2007, Ophthalmology.

[59]  Chi Pui Pang,et al.  HTRA1 promoter polymorphism in wet age-related macular degeneration. , 2007, Science.

[60]  N. Orr,et al.  A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration , 2006, Nature Genetics.

[61]  Yun Li,et al.  CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration , 2006, Nature Genetics.

[62]  Johanna M Seddon,et al.  Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration , 2006, Nature Genetics.

[63]  R. T. Smith,et al.  Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration , 2006, Nature Genetics.

[64]  C. Power,et al.  Cohort profile: 1958 British birth cohort (National Child Development Study). , 2006, International journal of epidemiology.

[65]  Johanna M Seddon,et al.  Evaluation of the clinical age-related maculopathy staging system. , 2006, Ophthalmology.

[66]  G. Abecasis,et al.  Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies , 2006, Nature Genetics.

[67]  Jian Ge,et al.  CFH Y402H Confers Similar Risk of Soft Drusen and Both Forms of Advanced AMD , 2005, PLoS medicine.

[68]  Yusuke Nakamura,et al.  [BioBank Japan project]. , 2005, Nihon rinsho. Japanese journal of clinical medicine.

[69]  Pablo Tamayo,et al.  Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[70]  R Holle,et al.  KORA - A Research Platform for Population Based Health Research , 2005, Gesundheitswesen (Bundesverband der Arzte des Offentlichen Gesundheitsdienstes (Germany)).

[71]  Jurg Ott,et al.  Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. , 2005, American journal of human genetics.

[72]  R. T. Smith,et al.  A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[73]  A. Edwards,et al.  Complement Factor H Polymorphism and Age-Related Macular Degeneration , 2005, Science.

[74]  J. Ott,et al.  Complement Factor H Polymorphism in Age-Related Macular Degeneration , 2005, Science.

[75]  J. Gilbert,et al.  Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration , 2005, Science.

[76]  Johanna M Seddon,et al.  The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences. , 2005, Archives of ophthalmology.

[77]  Border Ireland.  Guide Dogs for the Blind Association , 2005 .

[78]  D. Weeks,et al.  Susceptibility genes for age-related maculopathy on chromosome 10q26. , 2005, American journal of human genetics.

[79]  Lars G Fritsche,et al.  Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. , 2005, Human molecular genetics.

[80]  Shigeo Yoshida,et al.  Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. , 2004, American journal of human genetics.

[81]  B. Munoz,et al.  Racial variations in causes of vision loss in nursing homes: The Salisbury Eye Evaluation in Nursing Home Groups (SEEING) Study. , 2004, Archives of ophthalmology.

[82]  P. Jong.  Prevalence of age-related macular degeneration in the United States. , 2004 .

[83]  D. Nyholt.  A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. , 2004, American journal of human genetics.

[84]  J. Ott,et al.  Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degeneration. , 2004, Archives of ophthalmology.

[85]  Ian J Deary,et al.  The impact of childhood intelligence on later life: following up the Scottish mental surveys of 1932 and 1947. , 2004, Journal of personality and social psychology.

[86]  Benita J. O’Colmain,et al.  Prevalence of age-related macular degeneration in the United States. , 2004, Archives of ophthalmology.

[87]  D. Altman,et al.  Measuring inconsistency in meta-analyses , 2003, BMJ : British Medical Journal.

[88]  A. Hofman,et al.  Blood pressure, atherosclerosis, and the incidence of age-related maculopathy: the Rotterdam Study. , 2003, Investigative ophthalmology & visual science.

[89]  Paul Mitchell,et al.  Five-year incidence of age-related maculopathy lesions: the Blue Mountains Eye Study. , 2002, Ophthalmology.

[90]  The Age-Related Eye Disease Study system for classifying age-related macular degeneration from stereoscopic color fundus photographs: the Age-Related Eye Disease Study Report Number 6. , 2001, American journal of ophthalmology.

[91]  J L Haines,et al.  Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender. , 2000, Molecular vision.

[92]  George A. Williams,et al.  The Age-Related Eye Disease Study (AREDS): design implications. AREDS report no. 1. , 1999, Controlled clinical trials.

[93]  K. Roeder,et al.  Genomic Control for Association Studies , 1999, Biometrics.

[94]  A. Hofman,et al.  Genetic association of apolipoprotein E with age-related macular degeneration. , 1998, American journal of human genetics.

[95]  A. Munnich,et al.  The γ e4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration , 1998 .

[96]  A. Munnich,et al.  The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration. , 1998, American journal of ophthalmology.

[97]  J. J. Wang,et al.  Prevalence of age-related maculopathy in Australia. The Blue Mountains Eye Study. , 1995, Ophthalmology.

[98]  P T de Jong,et al.  An international classification and grading system for age-related maculopathy and age-related macular degeneration , 1995 .

[99]  D. Weeks,et al.  The Genetics of Age-Related Maculopathy , 1993 .

[100]  R. Klein,et al.  The Wisconsin age-related maculopathy grading system. , 1991, Ophthalmology.

[101]  K Y Liang,et al.  Longitudinal data analysis for discrete and continuous outcomes. , 1986, Biometrics.