The SGK1 gene variant, affecting 3-5% of whites and 10% of Africans, is associated with moderately enhanced blood pressure, increased body mass index, and the pathogenesis of metabolic syndrome.
Abstract Serum- and glucocorticoid-inducible kinase 1 (SGK1) is expressed following cell stress and exposure to a va riety of hormones including glucocorticoids and min eralocorticoids. It is activated by insulin and growth factors via phosphatidylinositol-3-kinase and the 3-phosphoinositide-dependent kinase PDK1. SGK1 en hances the activity of a variety of ion channels such as ENaC, TRPV5, ROMK, KCNE1/KCNQ1 and ClCKb; car riers such as NHE3, NKCC2, NCC and SGLT1; as well as the Na+/K+-ATPase. SGK1 contributes to Na+ retention and K+ elimination of the kidney as well as mineralocor ticoid stimulation of salt appetite. A certain SGK1 gene variant (combined polymorphisms in intron 6 I6CC and in exon 8 E8CC/CT) is associated with moderately enhanced blood pressure. The SGK1 gene variant has been shown to affect 3%-5% of whites and some 10% of Africans. The gene variant sensitizes the carriers to the hypertensive effects of hyperinsulinemia. Moreover, the SGK1 gene variant is associated with increased body mass index, presumably a result of enhanced SGLT1 activity with accelerated intestinal glucose absorption. Obesity predisposes the carriers of the gene variant to development of type 2 diabetes. Moreover, SGK1 stim ulates coagulation. Thus, SGK1 may participate in the pathogenesis of metabolic syndrome or syndrome X, a condition characterized by the coincidence of essential hypertension, procoagulant state, obesity, insulin resis tance and hyperinsulinemia.
Läng et al. (Mon,) conducted a review in Hypertension and metabolic syndrome. SGK1 gene variant was evaluated. The SGK1 gene variant, affecting 3-5% of whites and 10% of Africans, is associated with moderately enhanced blood pressure, increased body mass index, and the pathogenesis of metabolic syndrome.