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Andrew Demaine, Deborah Cross, Ann Millward; Polymorphisms of the Aldose Reductase Gene and Susceptibility to Retinopathy in Type 1 Diabetes Mellitus. Invest. Ophthalmol. Vis. Sci. 2000;41(13):4064-4068.
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purpose. Aldose reductase (ALR2) is the first and rate-limiting enzyme of the
polyol pathway and is involved in the pathogenesis of diabetic
retinopathy. Polymorphisms of the ALR2 gene are
associated with susceptibility to diabetic retinopathy in Chinese and
Japanese patients with type 2 diabetes. There are no reports
investigating these polymorphisms in white patients with type 1
diabetes from either Western Europe or North America. A CA dinucleotide
repeat polymorphism (5′ALR2; located at −2100 bp) as well as a novel
C(106)T polymorphism was investigated in 229 white patients with type 1
diabetes, with or without retinopathy.
methods. The DNA was typed for these polymorphisms using conventional polymerase
chain reaction techniques.
results. There was a highly significant increase in the frequency of the
Z−2 5′ALR2 allele and Z−2/X (where X is not Z+2) genotype in
patients with diabetic retinopathy (n = 159) compared
with those without who had diabetes of 20 years’ duration
(uncomplicated, n = 70; χ2 = 17.0, P < 0.0001). There was a similar decrease in the
Z+2/Y genotype (where Y is not Z−2; χ2 = 30.1, P < 0.000,001) in the patients with retinopathy
compared with the uncomplicated diabetes group. The C/Z−2 C(-106)T/5′
ALR2 haplotype was found in 33.3% of the patients with retinopathy and
8.7% of the patients with uncomplicated diabetes.
conclusions. These results confirm previous studies in other populations and in type
2 diabetes showing that polymorphisms in the promoter region of the ALR2 gene are associated with susceptibility to diabetic
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