Extended HLA-G haplotypes in patients with age-related macular degeneration

Research output: Contribution to journalArticle


The study aims to determine if genetic polymorphisms in the human leukocyte antigen (HLA)-G gene are associated with age-related macular degeneration (AMD). HLA-G is important for immunological tolerance, and it is also known to have angiogenic effects. Polymorphisms in the 5'-upstream regulatory region (URR) and 3'-untranslated region (UTR) of HLA-G have been associated with a number of diseases, especially with respect to a 14 bp insertion/deletion (ins/del) polymorphism in the 3'UTR. Full gene sequencing was performed on a cohort of 146 AMD patients and 63 healthy controls aged 60 years or older and HLA-G haplotypes were determined. Analyses were performed on a publicly available gene expression dataset from the NCBI GEO database (accession number GSE29801) from which expression data for HLA-G, -C and -A were extracted. Analysis of the GEO dataset showed that both HLA-G and -C was expressed in the back of the eye and that expression was upregulated in the macular area of AMD. No differences were observed between patients and controls when analysing the distribution of haplotypes in the HLA-G promoter, coding region, 3'UTR or the 14 bp ins/del polymorphism of the 3'UTR. The increased expression of HLA-G in the macula of AMD patients indicates a role of HLA-G in the micro environment as part of the AMD pathogenesis. This is supported by the expression of HLA-C, which has previously been shown to play a role in AMD. The HLA-G haplotype distribution did not display any differences between AMD patients and controls. This article is protected by copyright. All rights reserved.


  • Signe Goul Svendsen
  • Line Lynge Nilsson
  • Snezana Djurisic
  • Tina Funck
  • Ching-Lien Wu
  • Carsten Faber
  • Mads Krüger Falk
  • Amardeep Singh
  • Torben Lykke Sørensen
  • Edgardo D Carosella
  • Joël LeMaoult
  • Thomas Vauvert F Hviid
  • Mogens Holst Nissen
External organisations
  • University of Copenhagen
  • Zealand University Hospital
  • Skåne University Hospital
  • Saint-Louis Hospital, Paris
  • Copenhagen University Hospital
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Ophthalmology
Original languageEnglish
Pages (from-to)83-89
JournalHLA: Immune Response Genetics
Issue number2
Early online date2018 Jul 16
Publication statusPublished - 2018
Publication categoryResearch