CYP17A1 Locus: Regulatory Mechanisms and Clinical Associations With Cardiovascular Disease and Metabolic Syndrome

The CYP17A1 gene encodes the P450 17α-hydroxylase/17,20-lyase protein, a key enzyme in steroidogenesis. In the past, it was associated with disorders such as congenital adrenal hyperplasia, disorders of sex development, and castration resistant prostate cancer. Recently, genome-wide association studies have revealed that the locus harboring the CYP17A1 gene is strongly associated with multiple other traits, including cardiovascular and metabolic characteristics. This review summarizes the current knowledge about the regulatory mechanisms and monogenic disease implications of the CYP17A1 gene, then attempts to link the locus to cardiovascular and metabolic diseases, using experimental evidence supporting these relationships. Additionally, the review also speculates that the research focus may have been placed solely on one gene of the locus, which could have obscured the effects of other neighboring ones. In summary, our review aimed to highlight this locus as a complex regulatory region with implications that extend beyond a single gene.