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HLA-DQB1*0201/0302 is associated with severe retinopathy in patients with IDDM

Agardh, Daniel LU ; Gaur, L K; Agardh, Elisabet LU ; Landin-Olsson, Mona LU ; Agardh, Carl-David LU and Lernmark, Åke LU (1996) In Diabetologia 39(11). p.1313-1317
Abstract
Some insulin-dependent diabetic (IDDM) patients develop severe forms of retinopathy. Putative risk factors such as hypertension, poor metabolic control, nephropathy and growth hormone levels do not fully explain the progress of retinopathy in these patients. It has been discussed whether there is a genetic marker, since some diabetic patients without any known predisposing risk factors develop severe retinopathy and others do not. In the present study, HLA-DR and DQ were compared in two patient groups with IDDM. One group consisted of patients with early-onset diabetes, with severe non-proliferative or proliferative retinopathy; the other group had no or only mild signs of retinopathy. High resolution HLA typing was carried out by... (More)
Some insulin-dependent diabetic (IDDM) patients develop severe forms of retinopathy. Putative risk factors such as hypertension, poor metabolic control, nephropathy and growth hormone levels do not fully explain the progress of retinopathy in these patients. It has been discussed whether there is a genetic marker, since some diabetic patients without any known predisposing risk factors develop severe retinopathy and others do not. In the present study, HLA-DR and DQ were compared in two patient groups with IDDM. One group consisted of patients with early-onset diabetes, with severe non-proliferative or proliferative retinopathy; the other group had no or only mild signs of retinopathy. High resolution HLA typing was carried out by polymerase chain reaction (PCR) and hybridization with allele specific probes. Alleles on the DR3-DQ2 haplotype, DRB1*0301, DQA1*0501 and DQB1*0201, were more frequent in patients with severe retinopathy. A difference was seen when combining certain alleles in the genotypes of DQA1*03/0501 (p > 0.05) and DQB1*0201/0302 (p < 0.01). The findings of the present study suggest that DQB1*0201/0302 is the strongest genetic marker for severe retinopathy and DRB1*0301/0401 only has a secondary influence when combined with this genotype. It seems as if IDDM patients who are positive for the genotype DR3-DQ2/DR4-DQ8 (DRB1*0301-DQA1*0501-DQB1*0201/DRB1*0401 -DQA1*03-DQB1*0302) are at greater risk of developing severe retinopathy. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Severe retinopathy, insulin-dependent diabetes mellitus, HLA-DR, HLA-DQ, allele, haplotype, genotype
in
Diabetologia
volume
39
issue
11
pages
1313 - 1317
publisher
Springer Verlag
external identifiers
  • pmid:8932997
  • scopus:0029658548
ISSN
1432-0428
DOI
10.1007/s001250050575
language
English
LU publication?
yes
id
95362067-c7d2-43e7-a61a-f11f4424608e (old id 1110275)
date added to LUP
2008-07-21 09:00:32
date last changed
2017-01-01 04:38:14
@article{95362067-c7d2-43e7-a61a-f11f4424608e,
  abstract     = {Some insulin-dependent diabetic (IDDM) patients develop severe forms of retinopathy. Putative risk factors such as hypertension, poor metabolic control, nephropathy and growth hormone levels do not fully explain the progress of retinopathy in these patients. It has been discussed whether there is a genetic marker, since some diabetic patients without any known predisposing risk factors develop severe retinopathy and others do not. In the present study, HLA-DR and DQ were compared in two patient groups with IDDM. One group consisted of patients with early-onset diabetes, with severe non-proliferative or proliferative retinopathy; the other group had no or only mild signs of retinopathy. High resolution HLA typing was carried out by polymerase chain reaction (PCR) and hybridization with allele specific probes. Alleles on the DR3-DQ2 haplotype, DRB1*0301, DQA1*0501 and DQB1*0201, were more frequent in patients with severe retinopathy. A difference was seen when combining certain alleles in the genotypes of DQA1*03/0501 (p &gt; 0.05) and DQB1*0201/0302 (p &lt; 0.01). The findings of the present study suggest that DQB1*0201/0302 is the strongest genetic marker for severe retinopathy and DRB1*0301/0401 only has a secondary influence when combined with this genotype. It seems as if IDDM patients who are positive for the genotype DR3-DQ2/DR4-DQ8 (DRB1*0301-DQA1*0501-DQB1*0201/DRB1*0401 -DQA1*03-DQB1*0302) are at greater risk of developing severe retinopathy.},
  author       = {Agardh, Daniel and Gaur, L K and Agardh, Elisabet and Landin-Olsson, Mona and Agardh, Carl-David and Lernmark, Åke},
  issn         = {1432-0428},
  keyword      = {Severe retinopathy,insulin-dependent diabetes mellitus,HLA-DR,HLA-DQ,allele,haplotype,genotype},
  language     = {eng},
  number       = {11},
  pages        = {1313--1317},
  publisher    = {Springer Verlag},
  series       = {Diabetologia},
  title        = {HLA-DQB1*0201/0302 is associated with severe retinopathy in patients with IDDM},
  url          = {http://dx.doi.org/10.1007/s001250050575},
  volume       = {39},
  year         = {1996},
}