In this study, researchers specifically looked for genomic variants in DNA that were associated with measures of health and disease. Everyone has DNA sequences that consist of the chemical bases A, C, G, T. Genomic variants occur in DNA regions where one of those bases is replaced with another, across various individuals. The team found that some genomic variants are specifically found in certain groups. Others, such as some related to the function of hemoglobin (a protein in the blood that carries oxygen), are found in multiple groups.
"There are scientific benefits to including people from different ethnic groups in research studies. This paper gives us a glimpse of how ethnic diversity can be harnessed to better understand disease biology and clinical implications," said Lucia Hindorff, Ph.D., program director in the Division of Genomic Medicine at NHGRI and a co-author of the paper. "This paper represents an important comprehensive effort to incorporate diversity into large-scale studies, from study design to data analysis."
Variants - Study - Disease - Associations - Variants
Apart from finding new genomic variants, the study assessed whether known disease associations with 8,979 established genomic variants and specific diseases in European ancestry populations could be detected in African-American, Hispanic/Latino, Asian, Native Hawaiian, and Native American populations.
Their findings show that the frequency of genomic variants associated with certain diseases can differ from one group to another. For example, a strong association was found between a new genomic variant and smokers and their daily cigarette usage in Native Hawaiian participants. However, this association was absent or rare in most other populations. Not finding the variant in all groups despite large numbers of participants in each group strengthens the argument that findings from one population cannot always be generalized to others.
Variant - Hemoglobin - Gene - Gene - Role
A variant in the hemoglobin gene, a gene known for its role in sickle cell anemia, is associated with greater amount...
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