CYP7A1 and familial hypercholesterolemia: Additionally, recent reports have shown that some single nucleotide polymorphisms (SNPs) located in the promoter and enhancer regions (rs2081687 C/T, rs9297994 G/A, rs10107182 C/T, rs10504255 A/G rs1457043 C/T, rs8192870 G/T, and rs3808607 G/T) are associated with CYP7A1 mRNA expression, as well as with hypercholesterolemia, coronary heart disease, and type 2 diabetes mellitus (DM2) [9, 10, 12–17].