Familial combined hyperlipidemia (FCHL), an inherited disorder found in about 20% of individuals with premature coronary heart disease, is characterized by elevated levels of cholesterol and triglycerides. Päivi Pajukanta and colleagues report in the April issue of Nature Genetics on the identification of a gene variant that is associated with susceptibility to FCHL.
Pajukanta et al. had previously identified a region on chromosome 1 as harboring one or more genes linked to elevated risk of FCHL. By further analyzing a set of 60 affected families from Finland, they found that a particular combination of variants in the gene USF1 was associated with the disease. USF1, a protein that regulates the expression of other genes, has been shown particularly to control a set of genes involved in sugar and fat metabolism, which is consistent with its likely role in FCHL. The association should result in intensified research on the role of USF1 in the body's response to glucose and dietary carbohydrates.
In FCHL, cholesterol and triglyceride levels typically become elevated during the teenage years, and remain elevated throughout life, predisposing the individual to obesity, coronary artery disease and heart attack. Intriguingly, a broad region on chromosome 1 containing USF1 has also been linked to risk for type 2 diabetes, although additional studies will be required to prove that USF1 in particular is involved.
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