Gene mutation linked to cholesterol and heart disease

diseaseA new study published in the PLOS ONE journal has revealed that a common gene mutation that regulates cholesterol may be the contributing factor behind heart disease. The research team from the Universities of Virginia and Connecticut correlated the link between a mutation called the missense rs4238001 variant of SCARB1.

The research participants consisted of a group of 5,000 Americans taking part in the Multi-Ethnic Study of Atherosclerosis (MESA) sponsored by the National Heart Lung and Blood Institute. The gene mutation alters the type of protein that interferes with cholesterol regulation, and is linked to atherosclerosis, (a potentially serious condition where arteries become clogged up by fatty substances).

A statistically significant link between the SCARB1 variant and increased risk of heart disease across all group was detected. The risk of developing heart disease was increased by 49% among carriers of the rs4238001 variant than in the general population. African-American men carrying the rs4238001 variant had the highest risk of developing heart disease, while white males had a 24% higher risk.

The researchers intend to trace the metabolic pathway associated with the genetic variant. “We want to go deep in the cell, and figure out how to repair it. We’re really interested in understanding more about how this protein gets chewed up and degraded faster,” Prof. Rodriguez-Oquendo.


Association of the lipoprotein receptor SCARB1 common missense variant rs4238001 with incident coronary heart disease, Ani Manichaikul, et al., PLOS ONE, published online 20 May 2015, doi:10.1371/journal.pone.0125497.

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