Bile acid synthesis precursors in subjects with genetic hypercholesterolemia negative for LDLR/APOB/PCSK9/APOE mutations. Association with lipids and carotid atherosclerosis

• Published in: The Journal of steroid biochemistry and molecular biology Vol. 169; pp. 226 - 233
• Main Authors: Baila-Rueda, L., Cenarro, A., Lamiquiz-Moneo, I., Mateo-Gallego, R., Bea, A.M., Perez-Calahorra, S., Marco-Benedi, V., Civeira, F.
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.05.2017; Elsevier BV
• Subjects: 24(S)-Hydroxycholesterol; 27-Hydroxycholesterol; Adolescent; Adult; Aged; Apolipoprotein E; Apolipoproteins B - genetics; Apolipoproteins E - genetics; Arteriosclerosis; Atherosclerosis; Bile acid synthesis; Bile Acids and Salts - biosynthesis; Cardiovascular diseases; Carotid Artery Diseases - genetics; Carotid atherosclerosis; Carotid Intima-Media Thickness; Cholesterol; Cholesterol - metabolism; Cohort Studies; Female; Genetic markers; High density lipoprotein; Homeostasis; Humans; Hypercholesterolemia; Hypercholesterolemia - genetics; Lanosterol; Lipids; Lipids - blood; Liver - metabolism; Male; Middle Aged; Mutation; Oxysterols; Oxysterols - chemistry; Proprotein Convertase 9 - genetics; Receptors, LDL - genetics; Risk Factors; Sterols; Studies; Triglycerides; Ultrasonography; Young Adult; Bile acid synthesis; Hypercholesterolemia; Carotid atherosclerosis; Oxysterols; 27-Hydroxycholesterol; Cholesterol metabolism; 24(S)-Hydroxycholesterol

•Bile acid synthesis has not been studied in autosomal dominant hypercholesterolemias before.•Oxysterols are increased in non-FH GH associated with increased cholesterol synthesis.•When corrected for TC only 24S-hydroxycholesterol is increased.•High 24OH-chol ratios suggest a hepatic catabolic defec...