Key result
Novel B4GALT1 variant linked to reduced CVD and drives ~38% lower LDL-C levels.
Observational
Answers are grounded in this paper and cite their sources.
Rare variants and blood LDL cholesterol A current goal in genomics is to identify genetic variation associated with actionable traits of clinical concern. Through exome sequencing of an Old Order Amish population, Montasser et al . identified a genetic variant that results in an amino acid change in the beta-1,4-galactosyltransferase 1 protein and is correlated with lower levels of cardiovascular disease. Investigation of the mutant protein showed that it affects genes associated with low-density lipoprotein cholesterol (LDL-C), and mice engineered to express the mutant protein exhibited a 38% decrease in blood LDL-C levels. This study suggests that such genomic sequencing and analysis can link genotype to phenotype and identify potentially clinically actionable pathways to treat disease. —LMZ
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Montasser et al. (2021) conducted an observational in Cardiovascular disease and blood LDL cholesterol. Missense variant in B4GALT1 was evaluated on Blood LDL-C levels and cardiovascular disease (38% decrease in blood LDL-C (in engineered mice)). A missense variant in B4GALT1 identified in an Old Order Amish population was correlated with lower cardiovascular disease and resulted in a 38% decrease in blood LDL-C levels in engineered mice.
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