Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.

doi:10.1016/j.ajhg.2021.06.002

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.

American journal of human genetics - 5 Aug 2021

Lorés-Motta Laura, van Beek Anna E, Willems Esther, Zandstra Judith, van Mierlo Gerard, Einhaus Alfred, Mary Jean-Luc, Stucki Corinne, Bakker Bjorn, Hoyng Carel B, Fauser Sascha, Clark Simon J, de Jonge Marien I, Nogoceke Everson, Koertvely Elod, Jongerius Ilse, Kuijpers Taco W, den Hollander Anneke I

Abstract excerpt

Age-related macular degeneration (AMD) is the principal cause of blindness in the elderly population. A strong effect on AMD risk has been reported for genetic variants at the CFH locus, encompassing complement factor H (CFH) and the complement-factor-H-related (CFHR) genes, but the underlying mechanisms are not fully understood. We aimed to dissect the role of factor H (FH) and FH-related (FHR) proteins in AMD...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Complement C3b Inactivator Proteins

Share to Complement Factor H

Share to Complement System Proteins

Share to Genome-Wide Association Study

Share to Haplotypes

Share to Macular Degeneration

Share to Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 34260947
DOI: 10.1016/j.ajhg.2021.06.002
PMCID: PMC8387287

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.PMID 34260947Read ↗

Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations.Semantic proximity Read ↗

Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration.Semantic proximity Read ↗

Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.Semantic proximity Read ↗

Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration.Semantic proximity Read ↗

Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications.Semantic proximity Read ↗

Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.Semantic proximity Read ↗

Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.Semantic proximity Read ↗

Loss of CFHR5 function reduces the risk for age-related macular degenerationSemantic proximity Read ↗

Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.Semantic proximity Read ↗

Non-canonical roles of CFH in retinal pigment epithelial cells revealed by dysfunctional rare CFH variantsSemantic proximity Read ↗

A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.