Showing posts with label Marfan Syndrome. Show all posts
Showing posts with label Marfan Syndrome. Show all posts

Friday, April 15, 2022

Researchers discover gene variant partially responsible for height in world’s shortest people.

 

While there are many common variants in DNA known to affect height each has only about a millimeter difference or so. However, a gene variant found in 5% of Peruvians is observed to reduce height by up to 2.2 centimeters. This is the largest observed effect on height by any common gene variation. Rare variations like Marfans syndrome can have much larger effects on height but are found in less than 1% percent of individuals.

The variation is located on the FBN1 gene, a gene which involves producing a protein involved in forming bone, connective tissues, skin and other issues. Marfans syndrome is also linked to a variation within this gene. However the 5% of Peruvians who carry this variant are not considered sick in any pathological definition. Researchers surmised that natural selection favors the variant for shorter individuals, but it is unclear wether there is an evolutionary advantage it gives the those affected currently.

https://www.sciencenews.org/article/gene-variant-height-peruvians-short

https://www.nature.com/articles/s41586-020-2302-0


Sunday, October 11, 2020



Peruvians Shortest People on Earth Partly Due to Gene Variant.Genetics and genomics in Peru: Clinical and research perspective - Guio -  2018 - Molecular Genetics & Genomic Medicine - Wiley Online Library

There are over 4000 variants in DNA that affect a person's height, each affecting the height by a millimeter or so. Peruvians were found to be the shortest people with men average height of around 5'4 and female around 5'0 ft. Almost 5% of Peruvians have a gene variant that lower height by about 2.2 centimeters. This is the biggest effect on height recorded by a common gene variant ever. If the person carried the variant from two parents they are on average shorter by 4.4 centimeters than someone who doesn't have the variant. The variant is located in the gene FBN1, which is involved in the formation of bones, connective tissue, and other tissues. there are some rare variations on the FBN1 gene that can cause Marfan Syndrome. The 5% of Peruvians that carry this gene are not considered to be "sick" or have any disorder.

https://www.sciencenews.org/article/gene-variant-height-peruvians-short