(Q40409510)

20 September 2017

0 references

Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†. (English)

1 reference

20 September 2017

8

Mark J Daly

1 reference

20 September 2017

Yi Yu

1

1 reference

20 September 2017

Erin K Wagner

2

1 reference

20 September 2017

Eric H Souied

3

1 reference

20 September 2017

Sanna Seitsonen

4

1 reference

20 September 2017

Ilkka J Immonen

5

1 reference

20 September 2017

Paavo Häppölä

6

1 reference

20 September 2017

Soumya Raychaudhuri

7

1 reference

20 September 2017

Johanna M Seddon

9

1 reference

20 September 2017

22 December 2016

1 reference

20 September 2017

Human Molecular Genetics

1 reference

20 September 2017

25

1 reference

20 September 2017

23

1 reference

20 September 2017

5276-5285

1 reference

Analysis of protein-coding genetic variation in 60,706 humans

20 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Risk Prediction for Progression of Macular Degeneration: 10 Common and Rare Genetic Variants, Demographic, Environmental, and Macular Covariates

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Forty-year trends in cardiovascular risk factors in Finland

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Rare complement factor H variant associated with age-related macular degeneration in the Amish

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

RAREMETAL: fast and powerful meta-analysis for rare variants

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Nature and nurture- genes and environment- predict onset and progression of macular degeneration.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Seven new loci associated with age-related macular degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Fueling autoimmunity: type I interferon in autoimmune diseases.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Pellino3 targets the IRF7 pathway and facilitates autoregulation of TLR3- and viral-induced expression of type I interferons

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

An integrated encyclopedia of DNA elements in the human genome

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

zCall: a rare variant caller for array-based genotyping: genetics and population analysis

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Mutations in genes encoding complement inhibitors CD46 and CFH affect the age at nephritis onset in patients with systemic lupus erythematosus

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Mapping rare and common causal alleles for complex human diseases

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Genome-wide association analyses of genetic, phenotypic, and environmental risks in the age-related eye disease study.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

A map of human genome variation from population-scale sequencing

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

METAL: fast and efficient meta-analysis of genomewide association scans

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Thirty-five-year trends in cardiovascular risk factors in Finland

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Validating, augmenting and refining genome-wide association signals

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Evaluation of clustering and genotype distribution for replication in genome wide association studies: the age-related eye disease study

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Toll-like receptor 3 and geographic atrophy in age-related macular degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Whole-genome association study of bipolar disorder

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Basal laminar drusen caused by compound heterozygous variants in the CFH gene

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Principal components analysis corrects for stratification in genome-wide association studies

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Evaluation of the clinical age-related maculopathy staging system

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Susceptibility genes for age-related maculopathy on chromosome 10q26

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Complement factor H polymorphism in age-related macular degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Complement factor H polymorphism and age-related macular degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Complement factor H variant increases the risk of age-related macular degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Prevalence of age-related macular degeneration in the United States

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

A gene atlas of the mouse and human protein-encoding transcriptomes

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Dietary fat and risk for advanced age-related macular degeneration

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078639

The Genotype-Tissue Expression (GTEx) project

14 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDW336

Identification of the second heparin-binding domain in human complement factor H

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28011711

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Progression of age-related macular degeneration: association with body mass index, waist circumference, and waist-hip ratio

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28011711

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDW336

1 reference

20 September 2017

0 references

1 reference