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

Svendsen, Signe Goul ; Nilsson, Line Lynge ; Djurisic, Snezana ; Funck, Tina ; Wu, Ching-Lien ; Faber, Carsten ; Falk, Mads Krüger ; Singh, Amardeep LU ; Sørensen, Torben Lykke and Carosella, Edgardo D , et al. (2018) In HLA: Immune Response Genetics 92(2). p.83-89
Abstract

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... (More)

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.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
HLA: Immune Response Genetics
volume
92
issue
2
pages
83 - 89
publisher
Wiley-Blackwell
external identifiers
  • pmid:30009537
  • scopus:85051832732
ISSN
2059-2302
DOI
10.1111/tan.13340
language
English
LU publication?
yes
id
004be041-a3e5-4309-91c5-f96f64d96b25
date added to LUP
2019-05-21 10:49:52
date last changed
2024-06-25 14:14:37
@article{004be041-a3e5-4309-91c5-f96f64d96b25,
  abstract     = {{<p>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.</p>}},
  author       = {{Svendsen, Signe Goul and Nilsson, Line Lynge and Djurisic, Snezana and Funck, Tina and Wu, Ching-Lien and Faber, Carsten and Falk, Mads Krüger and Singh, Amardeep and Sørensen, Torben Lykke and Carosella, Edgardo D and LeMaoult, Joël and Hviid, Thomas Vauvert F and Nissen, Mogens Holst}},
  issn         = {{2059-2302}},
  language     = {{eng}},
  month        = {{07}},
  number       = {{2}},
  pages        = {{83--89}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{HLA: Immune Response Genetics}},
  title        = {{Extended HLA-G haplotypes in patients with age-related macular degeneration}},
  url          = {{http://dx.doi.org/10.1111/tan.13340}},
  doi          = {{10.1111/tan.13340}},
  volume       = {{92}},
  year         = {{2018}},
}