Release date: 2016-12-27
On December 23, the latest issue of Science published two heavyweight articles published in "Back to Back". One of the results combined genomic data of more than 50,000 people with their electronic medical records to identify potential new disease-causing genes. Data from another study further suggest that one in every 250 people may carry genetic variants, which in turn exposes them to a risk of heart attack and stroke but is not adequately treated.
3.5% of participants carry genetic mutations that are clearly associated with disease
Previously, several projects in Europe and the United States have analyzed DNA from a large population and combined data with clinical information to analyze the link between genetic mutations and disease and traits. But these studies have so far sought common genetic markers, rather than rare variants that have a greater impact on disease risk. In addition, not all of these studies share DNA results with participants.
To find rare disease variants and integrate patient DNA results, Geisinger Medical Systems in Pennsylvania and Regeneron Pharmaceuticals in New York sequenced 50,726 Geisinger patients' exomes. Most of these volunteers are rural in Pennsylvania, 98% of whom are of European descent, with an average age of 61, and agree to share their electronic medical records for long-term health studies.
Similar to previous studies, the researchers found that on average each person had about 21 rare or variability that could lead to loss of function. Analysis of patient medical records shows that these rare variants have important implications for disease-related medical traits.
The results of one of the articles showed that 3.5% of the participants had mutations in 76 genes that were significantly associated with the disease, such as the BRCA1 breast cancer risk gene and heart disease-related genes. At the same time, these people were also informed of their mutations in order to take appropriate medical measures when needed in the future.
In another article, the researchers further analyzed the clinical impact of three genes known to cause abnormally elevated levels of cholesterol, which may lead to heart disease and stroke in early years. Sure enough, among 229 individuals with such mutations, cholesterol levels in LDL are higher and are more likely to be associated with coronary artery disease than in general. However, only 58% of patients use the standard drug for the disease, statins, and less than half of these patients use the appropriate dose.
These findings suggest that screening these variants that increase cholesterol levels is significant in the entire population.
However, this study also has shortcomings that do not identify new disease genes that may serve as drug targets. This is because the genetic variation of the disease is rare in general, usually found in only one or two people, so more cases are needed to count the relationship between mutation and genetic risk, and the number of 50,000 is not enough.
Outlook
The role of these variability needs further verification, such as the precise medical plan combined with millions of people, the Million Veterans program, etc., to obtain more accurate results. At the same time, these projects will also have important implications for the study of rare diseases.
Source: Translational Medicine Network
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