|?|| (C;C) (C;T) (T;T) ||28|
| Disease Association
|| Defects in ABCG8 are a cause of sitosterolemia (MIM:210250); also known as phytosterolemia or shellfish sterolemia. It is a rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Sitosterolemia patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease.
[PMID 15996216] Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.
[PMID 16507104] A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.
[PMID 20170916] Association of selected ABC gene family single nucleotide polymorphisms with postprandial lipoproteins: results from the population-based Hortega study.
|| not reviewed
|| Insufficiently evaluated not reviewed
[PMID 25920552] Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array