apolipoprotein E2 (Bethesda)

a variant of apolipoprotein E2 isoform; derived from a mutation of the E2 or E2* allele; associated with type III hyperlipoproteinemia

Also Known As:

apo E-Bethesda; apo E2 (Bethesda); apo-E-Bethesda; apolipoprotein E-Bethesda

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

1.	Hyperlipoproteinemia Type III (Broad Beta Disease) 01/01/2019 - "Targeted next-generation sequencing identified (1) the APOE E2/E2 homozygous genotype classically described with familial dysbetalipoproteinemia; (2) in addition, one APOE E2 allele contained the rare heterozygous missense variant p.G145D, previously termed apo E-Bethesda; (3) a rare heterozygous APOC2 nonsense variant p.Q92X; and (4) a high polygenic risk score for TG levels (16 out of 28 TG-raising alleles) at the 82nd percentile for age and sex. "
2.	Genetic Risk Score 01/01/2019 - "Targeted next-generation sequencing identified (1) the APOE E2/E2 homozygous genotype classically described with familial dysbetalipoproteinemia; (2) in addition, one APOE E2 allele contained the rare heterozygous missense variant p.G145D, previously termed apo E-Bethesda; (3) a rare heterozygous APOC2 nonsense variant p.Q92X; and (4) a high polygenic risk score for TG levels (16 out of 28 TG-raising alleles) at the 82nd percentile for age and sex. "