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The primary objective of this study is to assess whether compositional and functional alterations of the gut metagenome may be related to AMD. The primary variable for this assessment is the composition of the gut metagenome which will be analyzed by shotgun sequencing to characterize the faecal metagenome. The secondary endpoint is to assess whether single nucleotide polymorphisms in CFH, ARMS2, C3, PLEKHA1, HTRA-1, VEGF-A, VEGF-B, VEGFR and APOE genes which have been shown to be risk factors for the development of AMD and other macular diseases correlate with alterations in the gut metagenome .
Age-related macular degeneration (AMD) is the most frequent cause of blindness in the elderly. Despite major research efforts in the last decades the etiology of AMD remains largely undefined and therefore treatment options are only very limited. However, there is evidence that nutrition and inflammation play a role in the pathogenesis of AMD . The latter is also corroborated by the finding that single nucleotide polymorphism in the gene encoding complement factor H is associated with AMD . In addition to CHF other genes such as ARMS2, C3, PLEKHA1, HTRA-1, VEGF-A, VEGF-B, VEGFR and APOE have been associated with development of AMD. Recent findings have implicated the gut microbiota as a contributor of metabolic diseases through the modulation of host metabolism and inflammation . Gut bacteria use mostly fermentation to generate energy, converting sugars, in part, to short-chain fatty acid, that are used by the host as energy source. Beyond short-chain fatty acids gut bacteria can provide some amino acids and contribute certain vitamins such as biotin to the host . The investigators propose to investigate whether compositional and functional alterations of the gut microbiota are a risk factor for developing AMD.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| age related macular degeneration | metagenome AMD |
| |
| controls | metagenome controls |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| metagenome | Genetic | metagenome |
|
| Measure | Description | Time Frame |
|---|---|---|
| taxonomic and functional characterization of gut microbiota | 3 years |
| Measure | Description | Time Frame |
|---|---|---|
| Gut-microbiota-based AMD classification | 3 years | |
| AMD-associated gut microbial markers | 3 years |
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Inclusion criteria:
Exclusion criteria:
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Patients with age related macular degeneration (AMD)
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| Name | Affiliation | Role |
|---|---|---|
| Martin Zinkernagel, M.D, PhD | Department of Ophthalmology, University Hospital Bern, Switzerland | Study Chair |
| Martin S Zinkernagel, MD, PhD | Department of Ophthalmology, University Hospital Bern, Switzerland | Principal Investigator |
| Martin Fiedler, MD | University Hospital Bern, Switzerland | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Inselspital Bern, Department of Ophthalmology | Bern | 3010 | Switzerland |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 41781852 | Derived | Eldridge N, Sporri L, Kreuzer M, Haldimann G, Zinkernagel MS, Zysset-Burri DC. Uncovering the relationship between the human ocular surface microbiome and gut microbiome. BMC Microbiol. 2026 Mar 5;26(1):335. doi: 10.1186/s12866-026-04878-z. | |
| 41629364 | Derived | Sporri L, Studer JM, Kreuzer M, Rotzetter J, Scharer D, Largiader CR, Jaggi D, Zinkernagel MS, Zysset-Burri DC. Linking the microbiome to the complement system in geographic atrophy. NPJ Genom Med. 2026 Feb 2;11(1):14. doi: 10.1038/s41525-026-00550-7. |
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| ID | Term |
|---|---|
| D008268 | Macular Degeneration |
| ID | Term |
|---|---|
| D012162 | Retinal Degeneration |
| D012164 | Retinal Diseases |
| D005128 | Eye Diseases |
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| ID | Term |
|---|---|
| D054892 | Metagenome |
| ID | Term |
|---|---|
| D016678 | Genome |
| D040342 | Genetic Structures |
| D055614 | Genetic Phenomena |
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blood serum/ stool