Genetics
A systematic review finds no clear link between CETP genetic variation and intestinal cholesterol absorption (Prog Lipid Res 2022)
Original title: Genetic variation and intestinal cholesterol absorption in humans: A systematic review and a gene network analysis
This systematic review examined genetic variation underlying the wide inter-individual differences in intestinal cholesterol absorption, which can affect response to cholesterol-lowering drugs and diets. Genetic variants in seven genes, ABCG5, ABCG8, ABO, APOE, MTTP, NPC1L1 and LDLR, were identified as associated with intestinal cholesterol absorption, but no clear associations were found for variants in several other cholesterol-pathway genes including CETP, alongside APOA4, APOB, CYP7A1, HMGCR, SCARB1, SLCO1B1 and SREBF1. CETP was nonetheless included in a broader fifteen-gene intestinal cholesterol absorption network constructed from the review, reflecting its role in the wider cholesterol pathway even though direct evidence linking its genetic variation to absorption itself was lacking.
Original abstract
Intestinal cholesterol absorption varies widely between individuals, which may translate into differences in responsiveness to cholesterol-lowering drugs or diets. Therefore, understanding the importance of genetic variation on cholesterol absorption rates and the complex intestinal cholesterol network is important. Based on a systematic review, genetic variants in seven genes (ABCG5, ABCG8, ABO, APOE, MTTP, NPC1L1, and LDLR) were identified that were associated with intestinal cholesterol absorption. No clear associations were found for variants in APOA4, APOB, CETP, CYP7A1, HMGCR, SCARB1, SLCO1B1, and SREBF1. The seven genes were used to construct an intestinal cholesterol absorption network. Finally, a network with fifteen additional genes (APOA1, APOA4, APOB, APOC2, APOC3, CETP, HSPG2, LCAT, LDLRAP1, LIPC, LRP1, OLR1, P4HB, SAR1B, and SDC1) was generated. The constructed network shows that cholesterol absorption is complex. Further studies are needed to validate and improve this network, which may ultimately lead to a better understanding of the wide inter-individual variability in intestinal cholesterol absorption and the development of personalized interventions.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.