This genetic mutation can make people 4 cm shorter
Last Update: 2021-02-18
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genes are the main factors affecting height, but the effects come from the complexity of multiple genes, and the effects of individual genes on height are often limited. In a paper published in Nature, researchers found a genetic variant that had a profound effect on height from one of the smallest groups, Peruvians. When carrying a genetic variant, the average height decreases by 2.2 cm, and when a pair of equal genes are mutated, the effect on height is superimposed to 4.4 cm. The researchers say this is the most significant gene known to have an effect on height.
Genetic variants that have the greatest impact on height
change significantly in human height from inceration to adolescence. One often asked question is: "What percentage of our height, genes and environment affect each?" "Based on a series of studies of twin height, the scientists found that genetic factors are the main determining factors of height, the proportion of the impact on height is about 60%-80%, the remaining 20%-40% is due to environmental factors, especially nutritional conditions.
Previously, a genome-wide association study (GWA) covering more than 180,000 people found hundreds of genetic variants associated with adult height at at least 180 gene points. In 2014, a study published in Nature Genetics expanded the study to more than 250,000 people and found 697 height-related mutations at 423 gene points. Some genetic variants affect the height of the body by affecting the length of the leg, spine, or head; However, most of these genes have no significant effect on an individual's height, usually only about 1 mm.
To learn more about the effects of genes on height, teams from several research institutions, including Harvard Medical School, have focused on Peruvians, one of the world's smallest populations. The average height of Peruvian men is 1.65 metres, while that of women is 1.53 metres. Peruvians are on average 10-15 cm shorter than the tallest Americans and Dutch on average. In a new study published in Nature, the researchers found one of the most affected genetic variants of height to date in Peruvians.
Lowering height also has an overlay effect
The Peruvians' genetic make-up comes mainly from the native Native American inhabitants, as well as Europeans, Africans and Asians who came to Peru after the 16th century
Studies have found that the genes of natives, Europeans and Africans make up 80 per cent, 16 per cent and 3 per cent of the Peruvian genome, respectively. The researchers speculate that a genetic variant that is common among natives is an important factor affecting the height of Peruvians.
To determine the factors that affect the height of Peruvians, the researchers collected data on the height and genome of 3,134 people from 1947 families in Lima, Peru. They found a misalmed mutation in the FBN1 gene, E1297G.
The gene variant E1297G is formed by a base mutation on the 31st exon of the FBN1 gene. The study found that the presence of an E1297G allele on the chromosome could result in a 2.2 cm reduction in height. When both allgenes are E1297G, the overlay effect is 4.4 cm shorter than the average person without the gene variant.
Of the previously discovered height-related genes, 99% had less than 0.5 cm of effect on height. The researchers believe they may have found the most significant gene to date that affects height. Among Peruvians, the probability of this gene variant occurring was 4.12 per cent, while in Mexicans (with an average height of about 1.71 metres for men), the probability of E1297G appearing was 0.78 per cent. Interestingly, this genetic variant does not exist in Europeans.
Gene variants are retained or environment-related
have found that some people living in specific environments have some genetic mutations that affect height. For example, a study of Sardinia residents found that a mutation in the gene KCNQ1, which encodes voltage-gateed potassium ion channels, reduced their average height by 1.8 cm. Another study found that in Inuit people in Greenland, the fat metabolism-related gene FADS3 had a genetic variant that reduced their average height by 1.9 cm. The scientists involved in the study believe that people in these areas retain these genetic mutations that affect height in order to adapt to specific environments and diets.
Similarly, Peruvians carry the genetic variant E1297G, or are related to the environment in which they live. When the researchers analyzed 150 Peruvians from the Peruvian coast, the Amazon forest region and the Andes, they found that this genetic variant was more likely to exist among Peruvians in coastal areas. Among them, the Moche people on Peru's north coast are more likely to have the genetic variant E1297G, and their average height (1.58 meters for men and 1.47 meters for women) is lower than the average height of Peruvians.
The researchers speculate that this gene variant may trigger other changes associated with the FBN1 gene, such as changes to the peruvians' cardiovascular system, which provide a greater advantage to their survival in the coastal environment. But until further results are available, these are just guesswork. (Global Science)
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