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@ARTICLE{Garzone:271698,
      author       = {Garzone, David and Imtiaz, Mohammed Aslam and Mauschitz,
                      Matthias M and Aziz, N. Ahmad and Holz, Frank G and
                      Breteler, Monique and Finger, Robert P},
      title        = {{A}ge-{R}elated {M}acular {D}egeneration and {I}ts
                      {G}enetic {R}isk: {A} {P}opulation-based {S}tudy.},
      journal      = {Current eye research},
      volume       = {50},
      number       = {1},
      issn         = {0271-3683},
      address      = {Abingdon},
      publisher    = {Taylor $\&$ Francis Group},
      reportid     = {DZNE-2024-01053},
      pages        = {82 - 86},
      year         = {2025},
      abstract     = {Specific genetic factors might serve as markers for risk
                      stratification of AMD progression, but their association
                      with key features of AMD has not been fully elucidated.
                      Thus, we investigated the association between overall and
                      pathway-specific genetic risk scores (GRS) and lead loci
                      (ARMS2, CFH) with AMD stages and features of high-risk
                      nonlate AMD, including reticular pseudodrusen (RPD) and
                      large drusen area (LDA).We performed a cross-sectional
                      analysis of data from the Rhineland Study, a
                      population-based study in Bonn, Germany. We included 4016
                      individuals aged 50 years and older of European descent. GRS
                      and pathway-specific subscores were constructed based on a
                      large genome-wide association study of AMD. Subscores were
                      generated based on gene-pathways associations (complement,
                      extracellular matrix remodeling (ECM) and lipid metabolism).
                      Associations were assessed using logistic and multinomial
                      regression.The mean age of participants was 63.36 years and
                      1813 $(45.1\%)$ were men. The GRS was positive in $48.1\%$
                      of individuals and increased, but did not fully overlap,
                      across AMD stages. Pathway-specific subscores increased
                      across AMD stages except for the ECM subscore, which only
                      showed a trend for increasing in late AMD. Increasing
                      overall GRS was associated with RPD and LDA (OR $[95\%CI]$
                      for RPD: 1.70 [1.33-2.15], for LDA: 1.64 [1.29-2.07]) among
                      individuals with AMD. Similarly, higher complement and ECM
                      subscores was associated with RPD, while for LDA, only an
                      association with complement subscore was observed.In a
                      population-based setting, we confirmed higher genetic risk
                      to be associated with more severe AMD and identified
                      associations with high-risk features of intermediate AMD.
                      Conjoint analyses suggested that high-risk features and late
                      AMD might be differentially associated with genetic
                      architecture in AMD, such as ECM remodeling. Incorporation
                      of genetic information such as GRSs might improve AMD risk
                      prediction strategies.},
      keywords     = {Humans / Male / Female / Cross-Sectional Studies / Middle
                      Aged / Macular Degeneration: genetics / Macular
                      Degeneration: epidemiology / Aged / Genetic Predisposition
                      to Disease / Genome-Wide Association Study / Risk Factors /
                      Germany: epidemiology / Complement Factor H: genetics /
                      Polymorphism, Single Nucleotide / Retinal Drusen: genetics /
                      Retinal Drusen: epidemiology / Proteins: genetics /
                      Population Surveillance / Disease Progression / AMD (Other)
                      / PRS (Other) / RPD (Other) / genetics (Other) / retina
                      (Other)},
      cin          = {AG Breteler / AG Aziz},
      ddc          = {610},
      cid          = {I:(DE-2719)1012001 / I:(DE-2719)5000071},
      pnm          = {354 - Disease Prevention and Healthy Aging (POF4-354)},
      pid          = {G:(DE-HGF)POF4-354},
      experiment   = {EXP:(DE-2719)Rhineland Study-20190321},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39155542},
      doi          = {10.1080/02713683.2024.2388692},
      url          = {https://pub.dzne.de/record/271698},
}