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Length rather than a specific allele of dinucleotide repeat in the 5′ upstream region of the aldose reductase gene is associated with diabetic retinopathy
Author(s) -
Fujisawa T.,
Ikegami H.,
Kawaguchi Y.,
Yamato E.,
Nakagawa Y.,
Shen G. Q.,
Fukuda M.,
Ogihara T.
Publication year - 1999
Publication title -
diabetic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.474
H-Index - 145
eISSN - 1464-5491
pISSN - 0742-3071
DOI - 10.1046/j.1464-5491.1999.00192.x
Subject(s) - aldose reductase , allele , retinopathy , diabetic retinopathy , locus (genetics) , genetics , medicine , gene , diabetes mellitus , microbiology and biotechnology , endocrinology , biology
Summary Aims 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.