Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Distribution of risk alleles in patients with age-related macular degeneration

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Multivitamin intake does not affect the risk of preterm and very preterm birth

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Time from injury to arrival at the trauma centre in patients undergoing interhospital transfer

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Face masks for the prevention of COVID-19 - Rationale and design of the randomised controlled trial DANMASK-19

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Nusinersen treatment of spinal muscular atrophy - a systematic review

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Prevalence and causes of infantile nystagmus in a large population-based Danish cohort

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • Marie Krogh Nielsen
  • Yousif Subhi
  • Christopher Rue Molbech
  • Karen Grønskov
  • Torben Lykke Sørensen
Vis graf over relationer

INTRODUCTION: Age-related macular degeneration (AMD) is a leading cause of vision loss in elderly people. Several single-nucleotide polymorphisms (SNP) have been shown to either increase or reduce the risk of developing AMD. In this study, we investigated the frequency of ten known risk alleles in a Danish cohort across subtypes of late AMD and explored any relationship to accelerated development of bilateral neovascular AMD.

METHODS: A total of 206 participants were included, 73 hereof had neovascular AMD, 57 geographic atrophy (GA), 28 polypoidal choroidal vasculopathy (PCV) and 48 were healthy aged controls. Genotyping was performed using the Kompetitive allele-specific polymerase chain reaction genotyping assay. Participants with neovascular AMD were followed in the clinic for four years and registered as having developed bilateral disease or having persistent unilateral disease.

RESULTS: We found that patients with neovascular AMD and GA, but not PCV, had a higher frequency of the risk allele for rs10490924 in age-related maculopathy susceptibility 2 (ARMS2) as well as several SNPs related to the complement pathway. Patients who developed bilateral disease within the four-year follow-up had an increased frequency of the risk-allele for rs1061170 in complement factor H (CFH).

CONCLUSIONS: Our results support the notion that ARMS2 and CFH are central in neovascular AMD and GA, and that the risk allele for rs1061170 in CFH is associated with accelerated onset of bilateral neovascular AMD.

FUNDING: The Velux Foundation, the Danish Eye Research Foundation, Fight for Sight Denmark, the University of Copenhagen, and Region Zealand funded this study. None of the funding bodies had any role in the design, execution or interpretation of the research performed.

TRIAL REGISTRATION: not relevant.

OriginalsprogEngelsk
TidsskriftDanish Medical Journal
Vol/bind67
Udgave nummer3
ISSN1603-9629
StatusUdgivet - mar. 2020

Bibliografisk note

Articles published in the DMJ are “open access”. This means that the articles are distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits any non-commercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.

ID: 59748993