[Aldose reductase gene polymorphism and rate of appearance of retinopathy in non insulin dependent diabetics].
BACKGROUND
Recent studies suggest that polymorphisms associated to the aldose reductase gene could be related to early retinopathy in noninsulin dependent diabetics (NIDDM). There is also new interest on the genetic modulation of coagulation factors in relation to this complication.


OBJECTIVE
To look for a possible relationship between the rate of appearance of retinopathy and the genotype of (AC)n polymorphic marker associated to aldose reductase gene.


METHODS
A random sample of 27 NIDDM, aged 68.1 +/- 10.6 years, with a mean diabetes duration of 20.7 +/- 4.8 years and a mean glycosilated hemoglobin of 10.6 +/- 1.6%, was studied. The genotype of the (AC)n, polymorphic marker associated to the 5' end of the aldose reductase (ALR2) gene was determined by 32P-PCR plus sequenciation. Mutations of the factor XIII-A gene were studied by single stranded conformational polymorphism, sequenciation and restriction fragment length polymorphism.


RESULTS
Four patients lacked the (AC)24 and had a higher rate of appearance of retinopathy than patients with the (AC)24 allele (0.0167 and 0.0907 score points per year respectively, p = 0.047). Both groups had similar glycosilated hemoglobin (11.7 +/- 0.2 and 10.5 +/- 1.6% respectively). Factor XIII gene mutations were not related to the rate of appearance of retinopathy.


CONCLUSIONS
Our data suggest that the absence of the (AC)24 allele of the (AC)n polymorphic marker associated to the 5' end of the aldose reductase gene, is associated to a five fold reduction of retinopathy appearance rate.
Olmos
P
P
Departamento de Nutrición, Facultad de Medicina, Pontificia Universidad Católica de Chile. polmos@med.puc.cl
Acosta
A M
AM
Schiaffino
R
R
Díaz
R
R
Alvarado
D
D
O'Brien
A
A
Muñoz
X
X
Arriagada
P
P
Claro
J C
JC
Vega
R
R
Vollrath
V
V
Velasco
S
S
Emmerich
M
M
Maiz
A
A
D017668:Age of Onset; D000368:Aged; D000449:Aldehyde Reductase / Q000235:genetics*; D000483:Alleles; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000235:genetics*; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D012720:Severity of Illness Index; D012727:Sex Characteristics
D005819:Genetic Markers; D000449:Aldehyde Reductase
Polimorfismo del gen de aldosa reductasa y velocidad de aparición de retinopatía en diabéticos no insulinodependientes.