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The mystery of complex traits: Which genes jointly determine human height
Height is one of the most common complex traits in humans, influenced by multiple genes and environmental factors. On this issue, the scientific community has conducted in-depth and long-term research on the interaction between genes and the environment. The diversity in height suggests that it is a trait determined by about 50 genes, with environmental factors such as nutrition also playing an important role.
Complex traits are phenotypes that are determined by two or more genes and do not follow Mendel's rule of dominance.
When discussing complex traits, we can classify them into quantitative traits, count traits, and threshold traits. Quantitative traits, such as height, are continuous variables that are influenced by multiple genetic factors. Count traits are characteristics that can be described by integers, such as the number of eggs laid per week by poultry. Threshold traits have clear normal and abnormal states, such as Type 2 diabetes.
Evolution of research methods
Early genetic research relied heavily on methods such as twin studies and quantitative trait loci (QTL) mapping. Twin studies use identical and fraternal twins to analyze the effects of the environment on complex traits. QTL mapping is the process of locating the genetic region associated with a specific trait by comparing a population of individuals with the target trait with molecular markers.
After the completion of the Human Genome Project in 2001, genome-wide association studies (GWAS) further revealed genetic variants associated with complex traits.
GWAS is performed on randomly mating populations and uses statistical methods such as the chi-square test to discover associated single nucleotide polymorphisms (SNPs). These studies allow scientists to compare the genomes of different populations, laying the foundation for subsequent genetic research.
Genetic structure
Genetic architecture is a key concept that describes all the genetic factors that influence a complex trait. Through mathematical models and statistical analysis, researchers can determine how many genes influence a trait and the magnitude of their influence. However, studies are further complicated by the fact that gene-environment interactions in different environments can lead to differences in genetic structure within the same species.
Many of the sites identified by GWAS are located in non-coding regions, suggesting that these variants may affect gene regulation rather than directly changing protein sequence.
With the rapid growth of genetic data, researchers are gradually better able to describe the genetic architecture of complex traits. For example, some studies have proposed the "whole genome" hypothesis, suggesting that the interactions between genes and their effects may be more important than the core genes themselves. This view challenges the traditional model of core gene influence and suggests that the cooperative effects of surrounding genes may make their influence on complex traits far greater than expected.
The significance of biomedicine
These findings have important implications for medical research and disease prevention. The study of complex traits allows us to better understand the genetic basis of diseases such as diabetes and autism and to predict certain genetic risks. Exploring the interaction between genes and the environment is an important direction for future research on how to use this knowledge to improve public health strategies.
In this context, the study of height is not only a simple scientific issue, but also a major proposition about how to understand individual differences among humans under the influence of various genes and the environment. As we face this complex genetic puzzle, can we discover more genes and their effects on height?
