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

被引：29

作者：

Fujisawa, T ^{[1
]}

Ikegami, H ^{[1
]}

Kawaguchi, Y ^{[1
]}

Yamato, E ^{[1
]}

Nakagawa, Y ^{[1
]}

Shen, GQ ^{[1
]}

Fukuda, M ^{[1
]}

Ogihara, T ^{[1
]}

机构：

[1] Osaka Univ, Sch Med, Dept Geriatr Med, Suita, Osaka 565, Japan

来源：

DIABETIC MEDICINE | 1999年 / 16卷 / 12期

关键词：

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

D O I：

10.1046/j.1464-5491.1999.00192.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1044 / 1047

页数：4

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