Venous Thromboembolism(Deep Venous Thrombosis & Pulmonary Embolism)
http://www.mdlinx.com/internal-medicine/top-medical-news/article/2016/02/22/3
American Society of Hematology News
One in three African Americans have at least one variant that increases risk.
New research published online in Blood identifies common genetic variants predominantly found in African Americans that double their risk for blood clots. To understand the genetic risk factors for VTE specific to African Americans, a team of researchers led by Dr. Perera conducted a genome–wide association study in which they genotyped DNA samples from 578 African Americans, 146 of whom had a history of unprovoked VTE. Next, they confirmed the variants deemed highly prevalent in the first group by genotyping an additional group of 159 African Americans, including 94 with VTE. Based on their analysis, researchers identified a link between VTE and three variants in a chromosome associated with decreased expression of thrombomodulin, a protein that regulates clotting: rs2144940, rs2567617, and rs1998081. Investigators suggest that the presence of one of these three variants doubles the risk for VTE. Approximately 36 percent of African Americans have at least one of these variants. Surprisingly, these variants were found in much lower frequency in other ethnicities from previous studies. “This study not only brings us closer to understanding the cause of VTE in African Americans, it demonstrates the importance of conducting population–specific research in precision medicine,” said Dr. Perera. “Our next steps will involve investigating the predictiveness of these risk factors for VTE with the goal of reducing the high prevalence and burden of VTE in this disproportionately affected population.”
New research published online in Blood identifies common genetic variants predominantly found in African Americans that double their risk for blood clots. To understand the genetic risk factors for VTE specific to African Americans, a team of researchers led by Dr. Perera conducted a genome–wide association study in which they genotyped DNA samples from 578 African Americans, 146 of whom had a history of unprovoked VTE. Next, they confirmed the variants deemed highly prevalent in the first group by genotyping an additional group of 159 African Americans, including 94 with VTE. Based on their analysis, researchers identified a link between VTE and three variants in a chromosome associated with decreased expression of thrombomodulin, a protein that regulates clotting: rs2144940, rs2567617, and rs1998081. Investigators suggest that the presence of one of these three variants doubles the risk for VTE. Approximately 36 percent of African Americans have at least one of these variants. Surprisingly, these variants were found in much lower frequency in other ethnicities from previous studies. “This study not only brings us closer to understanding the cause of VTE in African Americans, it demonstrates the importance of conducting population–specific research in precision medicine,” said Dr. Perera. “Our next steps will involve investigating the predictiveness of these risk factors for VTE with the goal of reducing the high prevalence and burden of VTE in this disproportionately affected population.”
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