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Researchers say they have identified 3 genetic variants that may double the risk of venous thromboembolism (VTE) in African Americans.
The variants are single-nucleotide polymorphisms (SNPs) found on chromosome 20—rs2144940, rs2567617, and rs1998081.
The study suggests more than a third of African Americans may have at least 1 of these SNPs, but they are much less common among people of Asian or European descent.
Minoli Perera, PharmD, PhD, of the University of Chicago in Illinois, and her colleagues conducted this research and reported the results in Blood.
Dr Perera’s team noted that African Americans are 30% to 60% more likely to suffer from VTE than any other US population. However, well-known genetic risk factors for VTE, such as factor V Leiden, are common in Caucasians but occur infrequently in African Americans.
This realization led the researchers to hypothesize that there might be undiscovered genetic variants more specific to African Americans.
“While African Americans have a high risk for VTE, previous studies have not specifically focused on this population,” Dr Perera said. “If we are not looking for the correct genetic mutations when we run a laboratory test, we are doing a disservice to minority populations.”
To understand the genetic risk factors for VTE specific to African Americans, Dr Perera and her colleagues 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.
The team then confirmed the variants deemed highly prevalent in the first group by genotyping the DNA of an additional group of 159 African Americans, including 94 with VTE.
These analyses suggested a link between VTE and 3 SNPs in chromosome 20, which is associated with decreased expression of thrombomodulin—rs2144940, rs2567617, and rs1998081.
The researchers said the presence of 1 of these 3 SNPs doubles the risk of VTE. In the discovery cohort, the odds ratio was 2.18 for rs2144940, 2.17 for rs2567617, and 2.28 for rs1998081.
In the replication cohort, the odds ratio was 1.89 for rs2144940 and 1.94 for rs1998081. The researchers were not able to test for rs2567617 in this cohort due to high linkage disequilibrium.
The team said their data suggest approximately 36% of African Americans have at least 1 of the 3 SNPs. But the variants were found in much lower frequencies 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,” Dr Perera said.
“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.” 
Photo courtesy of NIGMS
Researchers say they have identified 3 genetic variants that may double the risk of venous thromboembolism (VTE) in African Americans.
The variants are single-nucleotide polymorphisms (SNPs) found on chromosome 20—rs2144940, rs2567617, and rs1998081.
The study suggests more than a third of African Americans may have at least 1 of these SNPs, but they are much less common among people of Asian or European descent.
Minoli Perera, PharmD, PhD, of the University of Chicago in Illinois, and her colleagues conducted this research and reported the results in Blood.
Dr Perera’s team noted that African Americans are 30% to 60% more likely to suffer from VTE than any other US population. However, well-known genetic risk factors for VTE, such as factor V Leiden, are common in Caucasians but occur infrequently in African Americans.
This realization led the researchers to hypothesize that there might be undiscovered genetic variants more specific to African Americans.
“While African Americans have a high risk for VTE, previous studies have not specifically focused on this population,” Dr Perera said. “If we are not looking for the correct genetic mutations when we run a laboratory test, we are doing a disservice to minority populations.”
To understand the genetic risk factors for VTE specific to African Americans, Dr Perera and her colleagues 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.
The team then confirmed the variants deemed highly prevalent in the first group by genotyping the DNA of an additional group of 159 African Americans, including 94 with VTE.
These analyses suggested a link between VTE and 3 SNPs in chromosome 20, which is associated with decreased expression of thrombomodulin—rs2144940, rs2567617, and rs1998081.
The researchers said the presence of 1 of these 3 SNPs doubles the risk of VTE. In the discovery cohort, the odds ratio was 2.18 for rs2144940, 2.17 for rs2567617, and 2.28 for rs1998081.
In the replication cohort, the odds ratio was 1.89 for rs2144940 and 1.94 for rs1998081. The researchers were not able to test for rs2567617 in this cohort due to high linkage disequilibrium.
The team said their data suggest approximately 36% of African Americans have at least 1 of the 3 SNPs. But the variants were found in much lower frequencies 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,” Dr Perera said.
“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.”
Photo courtesy of NIGMS
Researchers say they have identified 3 genetic variants that may double the risk of venous thromboembolism (VTE) in African Americans.
The variants are single-nucleotide polymorphisms (SNPs) found on chromosome 20—rs2144940, rs2567617, and rs1998081.
The study suggests more than a third of African Americans may have at least 1 of these SNPs, but they are much less common among people of Asian or European descent.
Minoli Perera, PharmD, PhD, of the University of Chicago in Illinois, and her colleagues conducted this research and reported the results in Blood.
Dr Perera’s team noted that African Americans are 30% to 60% more likely to suffer from VTE than any other US population. However, well-known genetic risk factors for VTE, such as factor V Leiden, are common in Caucasians but occur infrequently in African Americans.
This realization led the researchers to hypothesize that there might be undiscovered genetic variants more specific to African Americans.
“While African Americans have a high risk for VTE, previous studies have not specifically focused on this population,” Dr Perera said. “If we are not looking for the correct genetic mutations when we run a laboratory test, we are doing a disservice to minority populations.”
To understand the genetic risk factors for VTE specific to African Americans, Dr Perera and her colleagues 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.
The team then confirmed the variants deemed highly prevalent in the first group by genotyping the DNA of an additional group of 159 African Americans, including 94 with VTE.
These analyses suggested a link between VTE and 3 SNPs in chromosome 20, which is associated with decreased expression of thrombomodulin—rs2144940, rs2567617, and rs1998081.
The researchers said the presence of 1 of these 3 SNPs doubles the risk of VTE. In the discovery cohort, the odds ratio was 2.18 for rs2144940, 2.17 for rs2567617, and 2.28 for rs1998081.
In the replication cohort, the odds ratio was 1.89 for rs2144940 and 1.94 for rs1998081. The researchers were not able to test for rs2567617 in this cohort due to high linkage disequilibrium.
The team said their data suggest approximately 36% of African Americans have at least 1 of the 3 SNPs. But the variants were found in much lower frequencies 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,” Dr Perera said.
“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.”