Rare genetic mutations may explain how height is inherited.

Researchers analyzed 20,000 genomes and found that rare genetic variants may explain how height is inherited.
look at each family, it's not hard to see that height is genetic , as previous studies based on identical twins and families have confirmed.
According to these studies, about 80% of the height difference scored is genetically determined.
However, since sequencing the human genome first began nearly 20 years ago, researchers have been unable to fully identify the genetic factors that affect height.
height is genetic - but researchers have struggled to find precise genetic factors.
height is genetic - but researchers have struggled to find precise genetic factors.
in the search for genes that control height, researchers have identified hundreds of common genetic variants associated with height traits.
but the results also present a conundrum: Each variant has little effect on height and, taken together, does not achieve the genetic contribution predicted by the Family Institute.
this phenomenon, known as "hereditary deficiency," is also found in other traits and diseases, so some researchers have even speculated that there was a fundamental error in our understanding of genetics.
, as some researchers have speculated, new research has found that most of the genetic deficiencies in height and body mass index (BMI) can be found in rare previously undiscovered genetic variants. Tim Spector, a genetic epidemiologist at King's College London
, said: "This paper is a relief, at least to show that our understanding of genetics is not fundamentally wrong, but more complex than we thought.
" the study was published on the bioRxiv preprint server on March 25.
Genomics Analysis To identify the genetic factors behind disease and traits, geneticists decided to use genome-wide association analysis (GWAS).
GWAS typically analyzes the genomes of tens of thousands, or even more than 1 million people, to screen for monobase variations, or mononucleotide polymorphisms (SNPs), from common genes in individuals with specific diseases, or from genes that may explain common traits such as height.
but GWAS has its limitations.
because of the priceless cost of sequencing the entire genome of thousands of people, GWAS only analyzes a portion of each person's genome, typically around 500,000 - equivalent to a snapshot of 6 billion nucleotides, known as components of DNA, in series in our genome. Timothy Frayling, a human geneticist at the University of Exeter in the Uk.
, said, on the other hand, we only need to sequence the genomes of hundreds of people to discover half a million common variants.
a team led by Peter Visscher of the Queensland Brain Research Institute in Australia decided to study whether the rarer SNP could explain hereditary deficiencies in height and BMI better than the GWAS routinely screened.
to do so, they sequenced 21,620 people, or all 6 billion bases.
(The author declined to comment on the preprinted article because it is in the submission stage.)
) The research team used a simple and powerful principle that all people are somehow kinship - albeit more distant - and that DNA can be used to calculate the distance of such kinship.
, combining information about human height and BMI, it is possible to identify common And rare SNPs that may contribute to these traits.
, for example, the height of one-to-three-for-three-for-two relatives in one family is closer than that of a pair of two-for-two relatives in another family: this suggests that the height of the three-to-three-to-three relatives is largely genetic, and we know how much of the genetic proportion is inherited from the degree of relevance of height, Frayling explains.
", "they used all the genetic information to analyze the extent to which kinship originated from rare SPs and to the extent to which they originated from common SNPs."
" so researchers could capture a genetic difference of one in five, or even one in five thousand.
based on information about these common and rare variants, the researchers eventually estimated that the geneticity was roughly the same as in previous twin studies.
in terms of height, Visscher and colleagues estimate that genetic factors account for 79%, while in terms of BMI, genetic factors account for 40%.
, if you analyze the height of a large group of people, 79% of the differences are due to genetic differences, not differences in environmental factors such as nutrition.
complex and difficult researchers also suggest how previously undiscovered mutations may affect physical traits.
Harvard Evolutionary Biologist Terence Capellini, said that so far, researchers have found that these rare mutations are more distributed in the protein coding regions of the genome and are more likely to be destructive to these regions.
suggests that rare mutations may have an impact on height by affecting the protein coding region, rather than other regions of the genome -- most of the regions of the genome do not produce proteins, but may affect protein expression.
these variations are so rare, it also suggests that they may be being phased out by natural selection - perhaps because they are harmful in some ways.
Given the complexity of heredity, it will take more time and money to decipher the root causes of common diseases, and even sequence hundreds or even millions of whole genomes to find rare variants that can explain most of the genetic factors of the disease , something researchers must do if they are to develop effective treatments for these diseases.
Spector said the study only revealed the total number of rare variants that play a role in common traits, without specifying which variants were more important. "The next step is to identify rare variants that are important for traits or diseases,"
said.
" Source: Nature Natural Research.