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In humans, the CYP17A1 gene is located on chromosome 10q24.3, and is mainly expressed in the adrenal glands and gonads.
This gene encodes a member of the cytochrome P450 superfamily of enzymes.
The aim of the present study was to assess the association between CYP17A1 gene polymorphism and CAD in a Chinese Uygur population.
The CYP17A1 gene produces P450c17 proteins; it has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens.
CYP17A1 gene mutations affect the synthesis of steroids, which are the precursors of sex hormones.
Some evidence has indicated that the levels of sex hormones can affect the development of cardiovascular and cerebrovascular diseases.
For example, the CYP2C19 genetic variants involved in the conversion of clopidogrel to its active metabolite are associated with an increased rate of recurrent cardiovascular events, including stent thrombosis (ST); recent reports suggest that CYP8A1, predominantly in vascular endothelial and smooth muscle cells, is a member of the CYP family and acts mainly as an enzyme that converts prostaglandin H2 (PGH2) into prostacyclin (PGI2); and some studies suggest that gene polymorphisms are associated with cardiovascular risk.
have been demonstrated to have a relationship with CAD.