Evidence map›Paper›PMID 39468037›Full record

ArticleNPJ genomic medicine2024

SLC16A8 is a causal contributor to age-related macular degeneration risk.

Navid Nouri, Bailey Hannon Gussler, Amy Stockwell, Tom Truong, Gyeong Jin Kang, Kristen C Browder, Yann Malato, Abdoulaye Sene, Sherri Van Everen, Charles C Wykoff and 14 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Trial
  2. Review
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

24 authors.

Navid Nouri *Genentech, Inc., South San Francisco, CA, USA.
Bailey Hannon Gussler *Genentech, Inc., South San Francisco, CA, USA.
Amy Stockwell *Genentech, Inc., South San Francisco, CA, USA.
Tom TruongGenentech, Inc., South San Francisco, CA, USA.
Gyeong Jin KangGenentech, Inc., South San Francisco, CA, USA.
Kristen C BrowderGenentech, Inc., South San Francisco, CA, USA.
Yann MalatoGenentech, Inc., South San Francisco, CA, USA.
Abdoulaye SeneGenentech, Inc., South San Francisco, CA, USA.
Sherri Van EverenGenentech, Inc., South San Francisco, CA, USA.
Charles C WykoffRetina Consultants of Texas, Retina Consultants of America, Houston, TX, USA.ORCID http://orcid.org/0000-0001-7756-5091
David BrownRetina Consultants of Texas, Retina Consultants of America, Houston, TX, USA.
Arthur FuWest Coast Retina Medical Group, San Francisco, CA, USA.
James D PalmerNorthern California Retina Vitreous Associates, San Jose, CA, USA.
Jose Ronaldo Lima de CarvalhoOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Ehsan UllahOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-0107-6608
Ranya Al RawiOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Emily Y ChewDivision of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-0999-9802
Wadih M ZeinOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-3771-6120
Bin GuanOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0001-5986-5189
Mark I McCarthyGenentech, Inc., South San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-4393-0510
Jeffrey W HofmannGenentech, Inc., South San Francisco, CA, USA.ORCID http://orcid.org/0000-0001-9126-974X
Shawnta Y ChaneyGenentech, Inc., South San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-0227-7500
Heinrich JasperGenentech, Inc., South San Francisco, CA, USA. jasperh@gene.com.
Brian L YaspanGenentech, Inc., South San Francisco, CA, USA. yaspan.brian@gene.com.ORCID http://orcid.org/0000-0002-3787-2510

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Age-related macular degeneration (AMD), a complex neurodegenerative disease, is a leading cause of visual impairment worldwide with a strong genetic component. Genetic studies have identified several loci, but few causal genes with functional characterization. Here we highlight multiple lines of evidence which show a causal role in AMD for SLC16A8, which encodes MCT3, a retinal pigment epithelium (RPE) specific lactate transporter. First, in an unbiased, genome-wide analysis of rare coding variants we show multiple SLC16A8 rare variants are associated with AMD risk, corroborating previous borderline significant reports from AMD rare variant studies. Second, we report a novel SLC16A8 mutation in a three-generation family with early onset macular degeneration. Finally, mis-expression in multiple model organisms shows functional and anatomic retinal consequences. This study highlights the important role for SLC16A8 and lactate regulation towards outer retina/RPE health and highlights a potential new therapeutic opportunity for the treatment of AMD.

Identifiers

PMID39468037
PMCPMC11519927

What OpenQuestion holds

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LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.