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The apolipoprotein B gene, APOB, encodes a protein implicated in cholesterol metabolism and thus - potentially - heart disease risk.
A study of 9,000+ Danish adults was conducted to determine if APOB SNPs affected low density cholesterol (LDL) levels or heart disease risk. While SNPs did affect LDL levels, they did not have statistically significant effects on overall risk for ischemic heart disease. [PMID 18160469]
The APOB SNPs associated with LDL cholesterol increases were (dbSNP rs#'s TBD):
The APOB SNPs associated with LDL cholesterol decreases were:
23andMe tests for three SNPs in the APOB gene that are associated with familial hypercholesterolemia type B:
- rs5742904, also known as R3500Q (risk allele T)
- rs12713559, also known as R3531C (risk allele A)
- i4000339, also known as R3500W (risk allele A)
A 2019 study of 29 Japanese hypobetalipoproteinemia families reported that several rare protein-truncating variants in the APOB gene not only reduced LDL-C and triglyceride levels but also reduced risk of coronary heart disease by 72% (72% lower risk for CHD (OR 0.28, CI: 0.12-0.64, p=0.002).[PMID 30939045]
The APOB gene (or more specifically, rare variants in the gene that raise low-density lipoprotein cholesterol levels) may also play some role in the development of early-onset Alzheimer's disease, according to a 2019 publication.[PMID 31135820] One review of this work has been posted here in the AlzForum.