Length rather than a specific allele of dinucleotide repeat in the 5 upstream region of the aldose reductase gene is associated with diabetic retinopathy

Authors: Fujisawa T.; Ikegami H.; Kawaguchi Y.; Yamato E.; Nakagawa Y.; Shen G.-Q.; Fukuda M.; Ogihara T.

Source: Diabetic Medicine, Volume 16, Number 12, December 1999 , pp. 1044-1047(4)

Publisher: Wiley-Blackwell

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Abstract:

Summary

Aims To assess the possible contribution of a genetic factor to diabetic retinopathy.

Methods (CA)n repeat length was investigated in the 5 prime 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 prime 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.

Keywords: aldose reductase; diabetic microangiopathy; diabetic retinopathy; dinucleotide repeat; genetic susceptibility

Language: English

Document Type: Research article

Publication date: 1999-12-01