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Diabetic macular oedema: under-represented in the genetic analysis of diabetic retinopathy.

Abstract Diabetic retinopathy, a complication of both type 1 and type 2 diabetes, is a complex disease and is one of the leading causes of blindness in adults worldwide. It can be divided into distinct subclasses, one of which is diabetic macular oedema. Diabetic macular oedema can occur at any time in diabetic retinopathy and is the most common cause of vision loss in patients with type 2 diabetes. The purpose of this review is to summarize the large number of genetic association studies that have been performed in cohorts of patients with type 2 diabetes and published in English-language journals up to February 2017. Many of these studies have produced positive associations with gene polymorphisms and diabetic retinopathy. However, this review highlights that within this large body of work, studies specifically addressing a genetic association with diabetic macular oedema, although present, are vastly under-represented. We also highlight that many of the studies have small patient numbers and that meta-analyses often inappropriately combine patient data sets. We conclude that there will continue to be conflicting results and no meaningful findings will be achieved if the historical approach of combining all diabetic retinopathy disease states within patient cohorts continues in future studies. This review also identifies several genes that would be interesting to analyse in large, well-defined cohorts of patients with diabetic macular oedema in future candidate gene association studies.
PMID
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Authors

Mayor MeshTerms

Genetic Association Studies

Keywords

diabetic macular oedema

diabetic retinopathy

genetic association studies

single nucleotide polymorphism

Journal Title acta ophthalmologica
Publication Year Start




PMID- 29682912
OWN - NLM
STAT- MEDLINE
DCOM- 20180514
LR  - 20180514
IS  - 1755-3768 (Electronic)
IS  - 1755-375X (Linking)
VI  - 96 Suppl A111
DP  - 2018 Apr
TI  - Diabetic macular oedema: under-represented in the genetic analysis of diabetic
      retinopathy.
PG  - 1-51
LID - 10.1111/aos.13678 [doi]
AB  - Diabetic retinopathy, a complication of both type 1 and type 2 diabetes, is a
      complex disease and is one of the leading causes of blindness in adults
      worldwide. It can be divided into distinct subclasses, one of which is diabetic
      macular oedema. Diabetic macular oedema can occur at any time in diabetic
      retinopathy and is the most common cause of vision loss in patients with type 2
      diabetes. The purpose of this review is to summarize the large number of genetic 
      association studies that have been performed in cohorts of patients with type 2
      diabetes and published in English-language journals up to February 2017. Many of 
      these studies have produced positive associations with gene polymorphisms and
      diabetic retinopathy. However, this review highlights that within this large body
      of work, studies specifically addressing a genetic association with diabetic
      macular oedema, although present, are vastly under-represented. We also highlight
      that many of the studies have small patient numbers and that meta-analyses often 
      inappropriately combine patient data sets. We conclude that there will continue
      to be conflicting results and no meaningful findings will be achieved if the
      historical approach of combining all diabetic retinopathy disease states within
      patient cohorts continues in future studies. This review also identifies several 
      genes that would be interesting to analyse in large, well-defined cohorts of
      patients with diabetic macular oedema in future candidate gene association
      studies.
CI  - (c) 2018 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & 
      Sons Ltd.
FAU - Broadgate, Suzanne
AU  - Broadgate S
AD  - Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical
      Neurosciences, University of Oxford, Oxford, UK.
FAU - Kiire, Christine
AU  - Kiire C
AD  - Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical
      Neurosciences, University of Oxford, Oxford, UK.
AD  - Oxford Eye Hospital, John Radcliffe Hospital, Oxford University NHS Foundation
      Trust, Oxford, UK.
FAU - Halford, Stephanie
AU  - Halford S
AUID- ORCID: http://orcid.org/0000-0003-2179-907X
AD  - Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical
      Neurosciences, University of Oxford, Oxford, UK.
FAU - Chong, Victor
AU  - Chong V
AD  - Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical
      Neurosciences, University of Oxford, Oxford, UK.
LA  - eng
PT  - Journal Article
PT  - Review
PL  - England
TA  - Acta Ophthalmol
JT  - Acta ophthalmologica
JID - 101468102
SB  - IM
MH  - Diabetes Mellitus, Type 1/complications
MH  - Diabetes Mellitus, Type 2/complications
MH  - Diabetic Retinopathy/etiology/*genetics
MH  - *Genetic Association Studies
MH  - Genetic Testing
MH  - Humans
MH  - Macular Edema/etiology/*genetics
MH  - Tomography, Optical Coherence
OTO - NOTNLM
OT  - diabetic macular oedema
OT  - diabetic retinopathy
OT  - genetic association studies
OT  - single nucleotide polymorphism
EDAT- 2018/04/24 06:00
MHDA- 2018/05/15 06:00
CRDT- 2018/04/24 06:00
PHST- 2017/06/21 00:00 [received]
PHST- 2017/11/21 00:00 [accepted]
PHST- 2018/04/24 06:00 [entrez]
PHST- 2018/04/24 06:00 [pubmed]
PHST- 2018/05/15 06:00 [medline]
AID - 10.1111/aos.13678 [doi]
PST - ppublish
SO  - Acta Ophthalmol. 2018 Apr;96 Suppl A111:1-51. doi: 10.1111/aos.13678.