|| Hypercholesterolemia, Type B; homozygote
|| Hypercholesterolemia, Type B; heterozygote
|?|| (A;A) (A;G) (G;G) ||28|
, also known as c.10580G>A, p.Arg3527Gln, R3527Q or R3500Q, is a SNP in the APOB
apolipoprotein B gene.
The risk allele is T according to 23andMe, which tests for this SNP in regard to familial hypercholesterolemia type B. In SNPedia, where we use the orientation as defined by dbSNP, the risk allele is rs5742904(A).
For a clinical case discussion of this SNP, see 'Clinical Case 2' within Box 1 of [PMID 19602640].
|Desc||HYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B100|
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
Familial Hypercholesterolemia Type B