Intron 4 polymorphism of the endothelial nitric oxide synthaseeNOSgene and early microangiopathy in type 1 diabetes
Autor: | D. Mamoulakis, V Vazgiourakis, M. Bitsori, C. Panierakis, George N. Goulielmos, E. Galanakis |
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Rok vydání: | 2009 |
Předmět: |
Adult
Male medicine.medical_specialty Adolescent Genotype Nitric Oxide Synthase Type III Immunology Nitric oxide Young Adult chemistry.chemical_compound Gene Frequency Enos Diabetes mellitus Internal medicine Genetics medicine Humans Child Molecular Biology Alleles Genetics (clinical) Type 1 diabetes Polymorphism Genetic biology business.industry Microangiopathy Intron General Medicine medicine.disease biology.organism_classification Introns Diabetes Mellitus Type 1 Endocrinology chemistry Child Preschool Female Microalbuminuria Endothelium Vascular business Diabetic Angiopathies Follow-Up Studies Retinopathy |
Zdroj: | International Journal of Immunogenetics. 36:153-157 |
ISSN: | 1744-313X 1744-3121 |
DOI: | 10.1111/j.1744-313x.2009.00839.x |
Popis: | Summary Nitric oxide (NO) is an endogenous vasodilator involved in inflammatory and autoimmune response, and in the pathophysiology of diabetic vascular disease. Endothelium-derived NO is formed from l-arginine by endothelial NO synthase (eNOS), and earlier studies have provided evidence for altered NO metabolism and impaired endothelial function in diabetes, probably due to polymorphisms in eNOS gene. In the present study we investigated the association of the eNOS gene intron 4 a/b VNTR polymorphism with diabetic microangiopathy in 61 young individuals with type 1 diabetes (T1D), 35 male and 26 female, aged 5.0–29.1 (mean 15.6) years, and followed up for 3.24–11.4 (mean 7.44) years. Ten patients (16.4%) had developed microalbuminuria, three hypertension and two retinopathy. Wild-type b/b homozygosity for eNOS gene intron 4 VNTR was found in 37 (60.7%) and a/b polymorphism in 24 (39.3%). No significant relationship was demonstrated between eNOS gene intron 4 polymorphisms and microalbuminuria, hypertension or retinopathy in these young individuals. Our findings suggest that a/b polymorphism of the intron 4 eNOS gene is not associated with early onset diabetic microangiopathy. |
Databáze: | OpenAIRE |
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