Study of Polynesian participants provides new clues to the genetic causes of high cholesterol


Fill-in-the-blank model of the cholesterol molecule. Credit: RedAndr/Wikipedia

The discovery of a genetic variant relatively common among people of Polynesian ancestry, but extremely rare in most other populations, gives clues to the genetic underpinnings of high cholesterol in all people, according to new research led by the University of Pittsburgh Public College. Health genetics in partnership with several other groups, including the University of Otago and the Samoan Health Research Society.

The surprising result, which was published this week in the magazine Human genetics and genomicsdemonstrates the importance of ensuring diversity in genetic databases.

Lead author Gina Carlson, Ph.D., assistant professor of human genetics The biostatistics in the public health house. “Through the generosity of thousands of Polynesians we have been able to find this alternative, and it is a powerful weapon that will launch new research into the biology underlying cholesterol.”

High cholesterol is a major cause of disease burden in countries at all income levels, is a risk factor for heart disease and stroke, and is estimated to cause 2.6 million deaths annually worldwide, according to the World Health Organization.

Carlson and her team built their study to explore a signal that turned up in a large genome-wide association scan for genes associated with body fat or fat. She suggested that a genetic variant on chromosome 5 could be associated with cholesterol. The team started a “accurate map” using the area genetic data Of the 2,851 Samoan adults from the Obesity, Lifestyle, and Genetic Adaptations Study Group (OLAGA, which stands for Samoan “life”), whose members also provided health information, including fat bars. To double-check the finding, the team looked for the association in 3,276 other Polynesian people from Samoa, American Samoa and Aotearoa New Zealand, and the same link between the variable and cholesterol was seen in them.

Using data from participants in Western Polynesia Samoa, the team was able to fill in missing information about the region they were interested in on chromosome 5. This led them to BTNL9 – a gene that directs production of the BTNL9 protein. The proteins normally signal cells to perform actions, although scientists have not distinguished the exact role of the BTNL9 protein.

It turns out that Polynesians have low levels of “good” HDL cholesterol and high levels of cholesterol Triglyceride It had a “gain-stopping” variant of BTNL9, meaning that the gene was directed to stop doing its job in protein production, a strong hint that the BTNL9 protein is involved in helping cells maintain healthy cholesterol levels.

“We don’t know much about this variant because it has not been seen in published genome references, and it is over-representative of individuals of European ancestry – it is virtually not found in populations of European ancestry, has very low frequency in South Asia and is not even particularly common in eastern Polynesian people, such as the Maori who live in Aotearoa, New Zealand,” Carlson said.

“But the way it has been linked to Samoan fat bars tells us that this gene is important for cholesterol, something we didn’t know before. By exploring BTNL9, we may one day discover new ways to help everyone maintain healthy cholesterol levels.”

A third of Greenlanders are at genetic risk for high cholesterol and cardiovascular disease

more information:
Gina C. Carlson et al, A stop-gain variant of BTNL9 correlates with atherosclerotic lipid profiles, Human genetics and genomics (2022). DOI: 10.1016 / j.xhgg.2022.100155

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