A team of researchers have identified the largest genetic contributor to height known to date. The gene was found under positive selection in the Peruvian population, who are known to be among the shortest people in the world.
Although height is a complex trait with genetic, socioeconomic and environmental factors, the team led by Harvard Medical School looked at the genetic influence among Peruvians. The results were published in Nature, where they found a variant on the FBN1 gene that is linked to shorter height and has a greater effect than any other known height-associated variant. The gene appears to be under positive selection in the Peruvian population.
Each copy of the gene was associated with an average of 2.2 centimetres reduction in height. People who have two copies of the gene were on average, 4.4 centimetres shorter. This effect is much greater than other identified gene variants on human height, which are usually in the range of 1 millimetre.
The researchers conducted a genome-wide association study using height and genotyping data and found five single nucleotide polymorphisms within a locus of the FBN1 gene. One of the variants was the missense variant (E1297G) which significantly lowered height. Other studies have previously been largely conducted in European populations, which identified 3290 height-influencing variants, but they had much less of an effect. Other FBN1 variants are linked to Marfan or Marfan-like syndromes which are associated with being tall.
Soumya Raychaudhuri, a senior author of the study, stated that the study highlights the advantage of studying different populations and having a worldwide strategy for understanding the human genome.
