A Functional Polymorphism in the Glucocorticoid Receptor Gene and Its Relation to Cardiovascular Disease Risk in Familial Hypercholesterolemia | Zendy

Kristel C.M.C. Koeijvoets | Zendy; Elisabeth F. C. van Rossum | Zendy; Geesje M. DallingaThie | Zendy; Ewout W. Steyerberg | Zendy; Joep C. Defesche | Zendy; John J.P. Kastelein | Zendy; Steven W. J. Lamberts | Zendy; Eric J.G. Sijbrands | Zendy

Open Access

A Functional Polymorphism in the Glucocorticoid Receptor Gene and Its Relation to Cardiovascular Disease Risk in Familial Hypercholesterolemia

Author(s) -

Kristel C.M.C. Koeijvoets,

Elisabeth F. C. van Rossum,

Geesje M. DallingaThie,

Ewout W. Steyerberg,

Joep C. Defesche,

John J.P. Kastelein,

Steven W. J. Lamberts,

Eric J.G. Sijbrands

Publication year - 2006

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-0578

Subject(s) - medicine , disease , relative risk , context (archaeology) , familial hypercholesterolemia , confidence interval , cohort , cohort study , endocrinology , glucocorticoid , glucocorticoid receptor , cholesterol , biology , paleontology

Individuals with the functional ER22/23EK variant in the glucocorticoid receptor gene are relatively resistant to the downstream consequences of glucocorticoids. Evidence suggests that carriers have a more favorable cardiovascular risk profile, but the relationship between this ER22/23EK variant and cardiovascular disease has not been hitherto assessed.

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