AN (A-C)(N) DINUCLEOTIDE REPEAT POLYMORPHIC MARKER AT THE 5'-END OF THE ALDOSE REDUCTASE GENE IS ASSOCIATED WITH EARLY-ONSET DIABETIC-RETINOPATHY IN NIDDM PATIENTS

To study the relationship between the aldose reductase gene and diabetic complications, an (A-C)(n) dinucleotide repeat sequence 2.1 kb upstream of the transcription start site of this gene was identified and studied. There are seven alleles at this locus with a polymorphism information content of 0.73 and a heterozygosity of 0.77 among the Chinese population in Hong Kong. One of the alleles (2-2) was found to be associated with early onset of retinopathy in patients with non-insulin-dependent diabetes (P = 0.007), suggesting that aldose reductase or a gene in the dose vicinity may be involved in the pathogenesis of this diabetic complication.