Length rather than a specific allele of dinucleotide repeat in the 5' upstream region of the aldose reductase gene is associated with diabetic retinopathy.
OBJECTIVE
To assess the possible contribution of a genetic factor to diabetic retinopathy.


METHODS
(CA)n repeat length was investigated in the 5' upstream region of the gene coding for aldose reductase (AR), which is a key enzyme of the polyol pathway and plays a role in hyperglycaemia-induced tissue damage, in Japanese patients with Type 2 DM.


RESULTS
The dinucleotide repeat length was significantly associated with proliferative diabetic retinopathy (PDR) (P= 0.029, Mann-Whitney U-test); i.e. shorter alleles were more prevalent in the PDR group than in the control group.


CONCLUSIONS
(CA)n repeat length, rather than a specific allele, in the 5' upstream region of the AR gene is associated with diabetic retinopathy. These data suggest that the AR locus plays a role in genetic susceptibility to diabetic retinopathy and that dinucleotide repeats in genomic DNA may be related to disease predisposition.
Fujisawa
T
T
Department of Geriatric Medicine, Osaka University Medical School, Suita, Japan.
Ikegami
H
H
Kawaguchi
Y
Y
Yamato
E
E
Nakagawa
Y
Y
Shen
G Q
GQ
Fukuda
M
M
Ogihara
T
T
D000368:Aged; D000449:Aldehyde Reductase / Q000235:genetics*; D000483:Alleles; D003930:Diabetic Retinopathy / Q000235:genetics*; D018900:Dinucleotide Repeats; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged
D000449:Aldehyde Reductase