A new exome sequencing study that analysed a unique Finnish gene pool has identified 26 deleterious alleles and variations in DNA that might predispose certain individuals to diseases such as CVDs and diabetes.
Utilising the unique genetic history of people in Finland, researchers have identified DNA variations that might predispose people to diseases such as CVDs. The study, conducted at Washington University School of Medicine, St. Louis, in collaboration with the University of California, Los Angeles, the University of Michigan and Institute for Molecular Medicine Finland, was published on 31 July 2019 in the Nature Journal.
In this unique data sample, the investigators combined Nightingale metabolic biomarker data with exome sequencing data and studies 64 quantitative traits. The researchers identified 26 potentially harmful DNA variations relevant to cardiovascular and metabolic health. These variations are significant and might alter a person’s lifetime risk of developing obesity, diabetes or high cholesterol levels.
The research results are an important milestone as without this unique Finnish population data, which is isolated and relatively genetically similar, researchers may have to sequence the DNA of millions of people to find similar associations. However, thanks to the northern and eastern Finland population, that have numerous deleterious alleles at a relatively high frequency, exome sequencing of 20,000 individuals from these regions was sufficient to be able to get conclusive results.
For instance, DNA variants identified by the study associated with differences in cholesterol measures and amino acids in the blood, which suggests unfavourable effects on several health problems such as heart disease and diabetes.
Although researchers have studied the unique Finnish gene pool before, this is one of the most comprehensive coding variation analyses which studies the changes in DNA impacting protein structure and function vis-à-vis on detailed measures of cardiovascular and metabolic health.
This analysis is being marked as a starting point to delve deeper into the health consequences of these variants. However, the study is an important milestone in demonstrating the effectiveness of using population isolates in genetic research. This research focused on data from Finland, but the results present a propitious opportunity and researchers plan to replicate this type of study in similarly genetically unique populations from different parts of the world, hoping to find more unique yet universal genetic markers that hold important answers to human health and diseases.