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Genomic Mapping Finds Cholesterol Genes

Nearly 100 Gene Variants Have Been Identified That Contribute to the Genetic Risk for High LDL Cholesterol, Including 59 New Ones
By
WebMD Health News
Reviewed by Laura J. Martin, MD

genes_heart_disease_risk_1.jpg

Aug. 4, 2010 -- Researchers have identified nearly 100 gene variants linked to blood lipids, which they say could explain a quarter to a third of hereditary factors influencing cholesterol -- a major risk factor for heart disease.

In one of the largest gene mapping studies ever conducted, a global team of investigators scanned the genomes of more than 100,000 people from 17 countries in an effort to locate the genetic hotspots associated with high cholesterol and triglycerides.

Their efforts led to the identification of 59 new genetic variants, or mutations, which contribute to high LDL, or bad, cholesterol within families.

Focusing on one of these variants, a subgroup of researchers also identified a novel regulator of low-density lipoprotein (LDL), or bad, cholesterol, which could potentially lead to new treatments for high cholesterol and heart disease.

A researcher who led that study says the findings demonstrate the value of large-scale gene mapping studies.

Both studies appear in the Aug. 5 issue of the journal Nature.

“There has been some disappointment, especially in the lay press, that genome-wide association studies haven’t led to new therapies,” University of Pennsylvania School of Medicine professor of medicine Daniel J. Rader, MD, tells WebMD. “That is a little naive since we are really very early in the process.”

Mapping Identifies LDL ‘Hotspots’

The first gene mapping studies were conducted just five years ago, and as recently as three years ago only a few gene variants associated with blood lipids had been identified, says Christopher O’Donnell, MD, of the NIH’s National Heart Lung and Blood Institute’s (NHLBI) Framingham Heart Study.

The NHLBI funded the larger cholesterol gene mapping study, along with other NIH agencies.

The goal of large, diverse genome-wide association studies (GWAS), as they are known in research circles, is to identify previously unknown common genetic factors that influence health and disease.

The more than 100,000 genomes scanned in the latest research included people of European, Eastern Asian, Southern Asian, and African-American descent participating in 46 separate heart studies across the globe.

In all, O’Connell and colleagues identified 95 gene variants associated with LDL and triglyceride levels, including 59 new ones. These variants were seen in men and women and in different ethnic groups.

Two of the identified regions are already targets of existing cholesterol drugs, but many others had not previously been associated with cholesterol.

O’Connell tells WebMD that as many as several hundred more gene variants that help regulate cholesterol and triglyceride levels may be identified in the near future.

“We are beginning to understand the biology of lipids in a way that we never did before,” he says. “And new approaches for sequencing genes should help us find less common, but potentially more powerful, hot spots.”

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Your total cholesterol level is in the Desirable range, but your level of "bad" LDL cholesterol is Very High. This may mean that your level of high-density lipoprotein (HDL), or "good" cholesterol, is too low. It is best to have a high level of "good" HDL and a low level of "bad" LDL because the HDL helps keep your LDL level in check. Ask your doctor for your HDL level. If your HDL is low, increasing your physical activity can increase it, which may help reduce your LDL level.

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Your total cholesterol level is Borderline High, but fortunately your level of "bad" LDL cholesterol is near optimal. This could mean you have a high level of high-density lipoprotein, or "good" HDL cholesterol, which protects against heart disease. Or you could have other non-measured increases in LDL-like particles that can increase heart disease. Your LDL level also could be optimal if you are taking a statin medication. Please check with your doctor to get your complete lipid profile and see if you may need additional treatment. In the meantime, find more information on WebMD's Cholesterol Health Center.

Your total cholesterol level is Borderline High. Your level of "bad" LDL cholesterol is Borderline High, too. Working to bring down your total cholesterol decreases your LDL cholesterol level. You can do this by exercising more and eating less food with saturated fats. Check food labels!

Your total cholesterol level is Borderline High. Your level of "bad" LDL cholesterol is High. Working to bring down your total cholesterol decreases your LDL cholesterol level. You can do this by exercising more and eating less food with saturated fats. Check food labels!

Your total cholesterol level is Borderline High. But your level of "bad" LDL cholesterol is Very High. Working to bring down your total cholesterol decreases your LDL cholesterol level. You can do this by exercising more and eating less food with saturated fats. Check food labels!

Your total cholesterol is High, but your level of "bad" LDL cholesterol is optimal. This could mean you have a high level of high-density lipoprotein, or "good" HDL cholesterol, which protects against heart disease. Or you could have elevated secondary lipids, such as non-HDL particles that increase the risk of heart disease. Your LDL level also could be optimal if you are taking a statin medication. Please check with your doctor to get your complete lipid profile and see if you may need additional treatment. In the meantime, find more information on WebMD's Cholesterol Health Center.

Your total cholesterol is High, but your level of "bad" LDL cholesterol is near optimal. This could mean you have a high level of high-density lipoprotein, or "good" HDL cholesterol, which protects against heart disease. Or you could have elevated secondary lipids, such as non-HDL particles that increase the risk of heart disease. Your LDL level also could be optimal if you are taking a statin medication. Please check with your doctor to get your complete lipid profile and see if you may need additional treatment. In the meantime, find more information on WebMD's Cholesterol Health Center.

Your total cholesterol level is High. Your level of "bad" LDL cholesterol is Borderline High. Working to bring down your total cholesterol decreases your LDL cholesterol level. You can do this by exercising more and eating less food with saturated fats. Check food labels!

Your total cholesterol level is High. Your level of "bad" LDL cholesterol is High, too. Working to bring down your total cholesterol decreases your LDL cholesterol level. You can do this by exercising more and eating less food with saturated fats. Check food labels! If you are struggling to bring down your total cholesterol and LDL cholesterol levels, your doctor may prescribe medication, such as statins. Following medication, dietary, and exercise instructions should result in improvements.

Your total cholesterol level is High, and your level of "bad" LDL cholesterol is Very High. Working to bring down your total cholesterol decreases your LDL cholesterol level. You can do this by exercising more and eating less food with saturated fats. Check food labels! If you are struggling to bring down your total cholesterol and LDL cholesterol levels, your doctor may prescribe statins or other cholesterol-lowering medications.

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