PAI-1 4G/5G insertion/deletion promoter polymorphism and microvascular complications in type 2 diabetes mellitus.
BACKGROUND
Plasminogen activator inhibitor-1 (PAI-1) plays an important role in the regulation of fibrinolysis and extracellular matrix turnover. PAI-1 4G/5G insertion/deletion polymorphism in the PAI-1 promoter region has been shown to modulate PAI-1 plasma levels. We investigated the relationship between this polymorphism and the prevalence of diabetic nephropathy and retinopathy in patients with type 2 diabetes in the Austrian population.


METHODS
147 consecutive patients with type 2 diabetes mellitus (96 men, 51 women; median age, 65 years; IQR, 59-71) were analyzed for the PAI-1 4G/5G genotype.


RESULTS
The genotype distribution in the individuals tested was as follows: 17% (n = 25) 5G/5G, 54% (n = 80) 4G/5G, and 29% (n = 42) 4G/4G. Patients homozygous for allele 4G had a significantly higher risk of diabetic proliferative retinopathy than patients without signs of diabetic retinopathy or nonproliferative retinopathy (OR, 7.3; 95% CI, 1.4-38.8; P = 0.02). No significant associations were observed between the PAI-1 genotype and the presence of albuminuria.


CONCLUSIONS
According to our results, diabetic proliferative retinopathy might be associated with the prevalence of PAI-1 genotype 4G/4G.
Funk
Marion
M
Department of Medical and Chemical Laboratory Diagnostics, University of Vienna Medical School, Vienna, Austria.
Endler
Georg
G
Exner
Markus
M
Marculescu
Rodrig
R
Endler
Lukas
L
Abrahamian
Heidemarie
H
Mauler
Harald
H
Grimm
Angelika
A
Raith
Marianne
M
Mannhalter
Christine
C
Prager
Rudolf
R
Irsigler
Karl
K
Wagner
Oswald F
OF
D000368:Aged; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D001317:Austria / Q000453:epidemiology; D014408:Biomarkers, Tumor / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D004251:DNA Transposable Elements / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000097:blood / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D017395:Plasminogen Activator Inhibitor 1 / Q000097:blood / Q000235:genetics*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics; D018570:Risk Assessment / Q000379:methods; D012307:Risk Factors
D014408:Biomarkers, Tumor; D004251:DNA Transposable Elements; D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; D001189:Aryl Hydrocarbon Hydroxylases; C414206:CYP2A13 protein, human