PMID- 30009537 OWN - NLM STAT- Publisher LR - 20240227 IS - 2059-2310 (Electronic) IS - 2059-2302 (Linking) DP - 2018 Jul 16 TI - Extended HLA-G haplotypes in patients with age-related macular degeneration. LID - 10.1111/tan.13340 [doi] AB - 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. CI - This article is protected by copyright. All rights reserved. FAU - Svendsen, Signe Goul AU - Svendsen SG AD - Department of Immunology and Microbiology, University of Copenhagen, Denmark. FAU - Nilsson, Line Lynge AU - Nilsson LL AD - Centre for Immune Regulation and Reproductive Immunology (CIRRI), Department of Clinical Biochemistry, Zealand University Hospital, Denmark. AD - Department of Clinical Medicine, Faculty of Health Sciences, University of Copenhagen. FAU - Djurisic, Snezana AU - Djurisic S AD - Centre for Immune Regulation and Reproductive Immunology (CIRRI), Department of Clinical Biochemistry, Zealand University Hospital, Denmark. AD - Department of Clinical Medicine, Faculty of Health Sciences, University of Copenhagen. FAU - Funck, Tina AU - Funck T AD - Centre for Immune Regulation and Reproductive Immunology (CIRRI), Department of Clinical Biochemistry, Zealand University Hospital, Denmark. AD - Department of Clinical Medicine, Faculty of Health Sciences, University of Copenhagen. FAU - Wu, Ching-Lien AU - Wu CL AD - Hemato-Immunology Research Department, CEA, Hospital Saint Louis, Paris. FAU - Faber, Carsten AU - Faber C AD - Department of Immunology and Microbiology, University of Copenhagen, Denmark. AD - Department of Ophthalmology, Rigshospitalet, Glostrup, Denmark. FAU - Falk, Mads Kruger AU - Falk MK AD - Department of Ophthalmology, Rigshospitalet, Glostrup, Denmark. AD - Clinical Eye Research Unit, Department of Ophthalmology, Zealand University Hospital, Roskilde, Denmark. FAU - Singh, Amardeep AU - Singh A AD - Clinical Eye Research Unit, Department of Ophthalmology, Zealand University Hospital, Roskilde, Denmark. AD - Dept. of Ophthalmology, Skane University Hospital & Lund University, Sweden. FAU - Sorensen, Torben Lykke AU - Sorensen TL AD - Clinical Eye Research Unit, Department of Ophthalmology, Zealand University Hospital, Roskilde, Denmark. AD - Department of Clinical Medicine, Faculty of Health Sciences, University of Copenhagen. FAU - Carosella, Edgardo D AU - Carosella ED AD - Hemato-Immunology Research Department, CEA, Hospital Saint Louis, Paris. FAU - LeMaoult, Joel AU - LeMaoult J AD - Hemato-Immunology Research Department, CEA, Hospital Saint Louis, Paris. FAU - Hviid, Thomas Vauvert F AU - Hviid TVF AUID- ORCID: 0000-0003-0299-0151 AD - Centre for Immune Regulation and Reproductive Immunology (CIRRI), Department of Clinical Biochemistry, Zealand University Hospital, Denmark. AD - Department of Clinical Medicine, Faculty of Health Sciences, University of Copenhagen. FAU - Nissen, Mogens Holst AU - Nissen MH AD - Department of Immunology and Microbiology, University of Copenhagen, Denmark. LA - eng PT - Journal Article DEP - 20180716 PL - England TA - HLA JT - HLA JID - 101675570 OTO - NOTNLM OT - 3'UTR OT - 5'URR OT - AMD OT - HLA-G OT - age-related macular degeneration OT - haplotype EDAT- 2018/07/17 06:00 MHDA- 2018/07/17 06:00 CRDT- 2018/07/17 06:00 PHST- 2018/03/15 00:00 [received] PHST- 2018/06/14 00:00 [revised] PHST- 2018/07/12 00:00 [accepted] PHST- 2018/07/17 06:00 [entrez] PHST- 2018/07/17 06:00 [pubmed] PHST- 2018/07/17 06:00 [medline] AID - 10.1111/tan.13340 [doi] PST - aheadofprint SO - HLA. 2018 Jul 16. doi: 10.1111/tan.13340.