Aortic valve disease: connection between lipoprotein(a) and valve calcification


A newly identified genetic variant doubles the risk of calcium buildup in the heart’s aortic valve. Calcium buildup is the most common cause of aortic stenosis, a narrowing of the aortic valve that can lead to heart failure, stroke, and sudden cardiac death.

An international genomics team called CHARGE ( Cohorts for Heart and Aging Research in Genomic Epidemiology ) found the variant in the gene for lipoprotein(a), a cholesterol-rich particle that circulates in the blood.
CHARGE oversees genomic studies of five large study populations in the United States and Europe, including the Framingham Heart Study ( FHS ).

The findings were published in the The New England Journal of Medicine ( NEJM ).

The CHARGE researchers conducted a genome-wide analysis of 2.5 million known genetic variants in a group of nearly 7,000 white participants. The analysis identified a variant in the lipoprotein(a), or Lp(a), gene that was highly correlated with calcification of the aortic valve, as measured by computed tomography ( CT ) scanning.
Follow-up analysis in more than 6,000 additional participants, including Hispanics, African-Americans, and Chinese-Americans, confirmed this correlation. The variant was present in about 7% of the study population and the people who carry it generally had higher amounts of Lp(a) circulating in their blood. The function of Lp(a) is unknown, but it is associated with an elevated risk of heart disease.

Another independent analysis carried out by CHARGE followed participants in Sweden and Denmark, and found that people with the Lp(a) variant had higher risks of clinical heart valve disease and of needing valve replacement surgery. ( Xagena )

Source: National Institutes of Health ( NIH ), 2013

XagenaMedicine_2013



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