Evidence map›Paper›PMID 21447678›Full record

ArticleInvestigative ophthalmology & visual science2011

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

Yi Yu, Robyn Reynolds, Jesen Fagerness, Bernard Rosner, Mark J Daly, Johanna M Seddon

Open access · bronzeAbstract read
In one paragraph

Article in Investigative ophthalmology & visual science, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 11 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
81citing papers in PubMed, 11 pooled it
10.7field-weighted citation impact, top 1% of its field
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

81 citing papers in PubMed, 11 syntheses or guidelines pooled it, 119 citations in OpenAlex.

  1. How do genetic polymorphisms influence the efficacy of age-related macular degeneration treatments? A systematic review and meta-analysis.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026
    Pooled it
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  7. ABCA1 rs1883025 polymorphism and risk of age-related macular degeneration.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2016
    Pooled it
  8. Pooled it
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  10. Complement factor D in age-related macular degeneration.Investigative ophthalmology & visual science · 2011
    Pooled it
  11. Pooled it
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  14. An Integrated Multi-omics Single Cell Atlas of the Human RPE and Choroid.bioRxiv : the preprint server for biology · 2026
    Article
  15. An siRNA targetingMolecular therapy. Nucleic acids · 2026
    Article
  16. Review
  17. Observational
  18. Review
  19. Immunogenetic and Environmental Factors in Age-Related Macular Disease.International journal of molecular sciences · 2024
    Review
  20. Review

21 more citing papers are in PubMed but not listed here.

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

6 authors at 4 institutions in 1 country.

Yi YuOphthalmic Epidemiology and Genetics Service, Department of Ophthalmology, Tufts Medical Center, Boston, Massachusetts, USA.
Robyn Reynolds
Jesen Fagerness
Bernard Rosner
Mark J Daly
Johanna M Seddon
Tufts Medical Center · USBroad Institute · USMassachusetts General Hospital · USTufts University · US

Funding

ETIOLOGIC STUDIES OF AGE-RELATED MACULAR DEGENERATIONR01EY011309 · NEI · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI SEDDON, JOHANNA M · 2003 to 2017
$9.3M
NEI NIH HHS R01 EY011309NEI NIH HHS R01-EY11309
6 · The paper itself

Abstract

purposeIntermediate and large drusen usually precede advanced age-related macular degeneration (AMD). There is little information about which genes influence drusen accumulation. Discovery of genetic variants associated with drusen may lead to prevention and treatments of AMD in its early stages.

methodsA total of 3066 subjects were evaluated on the basis of ocular examinations and fundus photography and categorized as control (n = 221), intermediate drusen (n = 814), large drusen (n = 949), or advanced AMD (n = 1082). SNPs in the previously identified CFH, C2, C3, CFB, CFI, APOE, and ARMS2/HTRA1 genes/regions and the novel genes LIPC, CETP, and ABCA1 in the high-density lipoprotein (HDL) cholesterol pathway were genotyped. Associations between stage of AMD and SNPs were assessed using logistic regression.

resultsControlling for age, sex, education, smoking, body mass index, and antioxidant treatment, the number of minor (T) alleles of the genes LIPC and ABCA1 were significantly associated with a reduced risk of intermediate drusen (LIPC [P trend = 0.045], ABCA1 [P = 4.4 × 10(-3)]), large drusen (LIPC [P = 0.041], ABCA1 [P = 7.7 × 10(-4)]), and advanced AMD (LIPC [P = 1.8 × 10(-3)], ABCA1 [P = 3 × 10(-4)]). After further adjustment for known genetic factors, the protective effect of the TT genotype was significant for intermediate drusen (LIPC [odds ratio (OR), 0.56; 95% confidence interval (CI), 0.33-0.94], ABCA1 [OR, 0.48; 95% CI, 0.27-0.85]), large drusen (LIPC [OR, 0.58; 95% CI, 0.34-0.98)], ABCA1 [OR, 0.41; 95% CI, 0.23-0.74)]), and advanced AMD (LIPC [OR, 0.39; 95% CI, 0.21-0.74)], ABCA1 [OR, 0.35; 95% CI, 0.17-0.71)]). CFH, C3, C2, and ARMS2/HTRA1 were associated with large drusen and advanced AMD.

conclusionsLIPC and ABCA1 are related to intermediate and large drusen, as well as advanced AMD. CFH, C3, C2, and ARMS2/HTRA1 are associated with large drusen and advanced AMD. Genes may have varying effects on different stages of AMD.

Indexed as

Genetic VariationAgedAged, 80 and overATP Binding Cassette Transporter 1ATP-Binding Cassette TransportersFemaleGenetic Predisposition to DiseaseGenotypeHumansLipaseMacular DegenerationMaleOptic Disk DrusenPhenotypePolymorphism, Single NucleotideSeverity of Illness IndexABCA1 protein, humanATP Binding Cassette Transporter 1ATP-Binding Cassette TransportersLipaseLIPC protein, human

Identifiers

PMID21447678
PMCPMC3175969
OpenAlexW2025406762

What OpenQuestion holds

Textmetadata
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.