A gene variant initially uncovered in the genomes of people belonging to the Old Order Amish has been linked in a new study to lower levels of fibrinogen (a blood clotting factor) and low-density lipoprotein (LDL) cholesterol—both of which, when elevated, increase a person’s risk of developing cardiovascular disease. The work, published today (December 2) in Science, not only connects a missense mutation in the enzyme-coding gene beta-1,4-galactosyltransferase 1 (B4GALT1) with heart health in humans, but confirms the link in mice.
“This is a very good example of the utility of small founder or isolated populations in predicting genetic effects of genes that could not easily be identified even in the very big human biobanks that are available worldwide,” Caroline Hayward, who studies human genetics at the University of Edinburgh and did not participate in the study, writes in an email to The Scientist.
May Montasser, a genetic epidemiologist at ...
