US, WASHINGTON (ORDO NEWS) — An international group of researchers studying the genetic diversity of Peruvians said they were able to find the strongest genetic factor that affects growth. The discovery article was published in Nature.
Such a factor turned out to be one of the variants of the FBN1 gene encoding the fibrillin protein. This variant, designated as E1297G, was found exclusively among the indigenous inhabitants of the region (Indians) and was found to be significantly associated with low growth of the carrier.
Each copy of E1297G was associated with a decrease in growth of an average of 2.2 centimeters. People with two copies of such a gene were on average 4.4 centimeters lower than those who did not have this option in the genome. This effect is much more powerful than the influence exerted by other identified variants of genes that are somehow related to growth: however, a copy of a gene usually gives an effect, measured in a few millimeters.
“This study clearly shows the advantage of studying different population groups and having a diverse global strategy for the study of the human genome,” says senior research author Soumya Raichaudhuri. “Our findings are also relevant for diseases associated with FBN1.”
It has long been known that a wide range of mutations in the FBN1 gene is directly related to Marfan syndrome, a pathology of connective tissue that manifests itself in relatively high growth with a slender physique, as well as hypermobility of joints and problems with the cardiovascular system. However, the E1297G variant with Marfan syndrome is in no way associated.
The newly identified variant is noticeably more common in coastal populations of Peruvian Indians living near the Pacific Ocean. This suggests that low growth may be the result of adaptation to environmental factors. Interestingly, E1297G is found in the genomes of approximately five percent of the indigenous people of Peru, but less than one percent of Mexican Indians. In the genome of people of European origin, the option is completely absent.
“One of the most important findings of this study was that genetic variants of the same gene can have very different effects,” says co-author Samira Askari. – Previously, if you asked genetics the question of what the variant of this gene affects, it would probably answer what causes the disease. But we found something completely different. ”
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