Scientists have discovered a gene responsible for short stature

Hyperaxion May 14, 2020

Harvard University scientists concluded that a pair of FBN1 (E1297G) alleles, very common in the Peruvian population, can make people up to 4.4 centimeters shorter.

A team of researchers at Harvard University’s Brigham and Women’s Hospital has identified one of the largest genetic contributors to height known to date. The discovery was published on Nature.

Scientists concluded that a pair of FBN1 alleles, very common in the Peruvian population, can make people up to 4.4 centimeters shorter. (Credit: Ben Ostrower/Unsplash).

The scientists studied the genes of several Peruvians, a population known to have the lowest average height in the world. From this, a variant of the FBN1 gene (E1297G) was identified, which is associated with a lower height.

This variant is found exclusively in Native American descendants, who make up the majority of the Peruvian population. About 80% of the genes of a common Peruvian come from natives.

Each allele of the gene was linked to a 2.2 cm reduction in a person’s height. People who have two copies are, on average, 4.4 centimeters shorter. The results shed new light on future studies of human genetics.

And it doesn’t stop there: the researchers knew that a wide variety of mutations in the FBN1 gene caused Marfan syndrome – a disorder that causes joint hypermobility, tall stature compared to family members and cardiovascular problems.

Fortunately, according to the study, the new variant has nothing to do with the disease. The research also pointed out that the distribution of E1297G seems to have been the result of natural selection – an evolutionary process described by Darwin in which nature selects individuals more adapted to certain conditions -, since the new variant is more frequent in Peruvian coastal populations than in the Andes or the Amazon.

When analyzing European and North American genomes, the researchers concluded that the variant is not present in these groups, giving more strength to the theory of natural selection among populations in Latin America.

These findings highlight the importance of including diverse populations in biomedical research. “Any people who are left out aren’t likely to reap the benefits of this kind of research,” says William Johnston, Professor of Global Health at Harvard and senior author of the study, in a note.

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