Association of endothelial lipase Thr111Ile polymorphism with proliferative retinopathy in type 2 diabetes patients.
OBJECTIVE
Our previous study demonstrated that the endothelial lipase (EL) C.584C>T polymorphism (rs2000813, p.Thr111Ile) was significantly associated with diabetic retinopathy (DR). The present work was conducted to see if this specific variant of the EL gene was more specifically linked to the severity of DR.


METHODS
This retrospective cohort study was based on a review of the institutional charts of 287 type 2 diabetes patients (mean age = 59.7 years; mean BMI = 29.0 kg/m(2); mean HbA1c=8.4%) genotyped for the EL C.584C>T polymorphism (rs2000813, p.Thr111Ile). The stage of DR was also determined for each genotype (CC, CT, TT).


RESULTS
On univariate analysis, the minor allele homozygote TT variant was significantly associated with severe DR (OR: 4.3; 95% CI: 1.4, 13.1) compared with the major CC homozygote. No significant result was found for the CT heterozygote. Multivariate analysis revealed an increased risk for TT homozygotes to present with severe non-proliferative DR (OR: 8.09; 95% CI: 1.23, 53.1) or proliferative DR. Other associations were not significant.


CONCLUSIONS
Minor allele homozygosity for this EL variant (c.584C>T) could be a significant risk factor for developing severe, sight-threatening disease due to proliferative DR. Further prospective studies of this EL polymorphism in a larger population sample are needed to confirm these results.
Service d'Ophtalmologie, Hôpital Robert-Debré, Centre Hospitalo-Universitaire, 51092 Reims, France.
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C
Arndt
Service d'Ophtalmologie, Hôpital Robert-Debré, Centre Hospitalo-Universitaire, 51092 Reims, France.
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Leclercq
Pôle Thoracique, Cardio-Vasculaire et Neurologique, Centre Hospitalo-Universitaire, 51092 Reims, France.
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Nazeyrollas
Laboratoire Pol Bouin, Hôpital Maison-Blanche, Centre Hospitalo-Universitaire, 51092 Reims, France.
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Durlach
Service d'Ophtalmologie, Hôpital Robert-Debré, Centre Hospitalo-Universitaire, 51092 Reims, France.
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Ducasse
Cardiovascular Research Institute, 555, Mission Bay Boulevard South Room 252A, Box 311, San Francisco, CA 94158, USA.
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Movesayan
Service d'Endocrinologie, Maladies Métaboliques et de Médecine Interne, Hôpital Robert-Debré, Centre Hospitalo-Universitaire, 51092 Reims, France.
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Socquard
Laboratoire Pol Bouin, Hôpital Maison-Blanche, Centre Hospitalo-Universitaire, 51092 Reims, France.
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Clavel
Cardiovascular Research Institute, 555, Mission Bay Boulevard South Room 252A, Box 311, San Francisco, CA 94158, USA.
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Malloy
Cardiovascular Research Institute, 555, Mission Bay Boulevard South Room 252A, Box 311, San Francisco, CA 94158, USA.
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Pullinger
Cardiovascular Research Institute, 555, Mission Bay Boulevard South Room 252A, Box 311, San Francisco, CA 94158, USA.
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JP
Kane
Pôle Thoracique, Cardio-Vasculaire et Neurologique, Centre Hospitalo-Universitaire, 51092 Reims, France; Cardiovascular Research Institute, 555, Mission Bay Boulevard South Room 252A, Box 311, San Francisco, CA 94158, USA. Electronic address: vincent.durlach@univ-reims.fr.
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Durlach
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008049:Lipase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies
C410382:LIPG protein, human; D008049:Lipase
Endothelial lipase gene; Proliferative retinopathy; Type 2 diabetes; c.584C>T polymorphisms (rs2000813; p.Thr111Ile)