Related Experiment Video
Updated: Dec 31, 2025

09:37
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
10.3K
Progressive effects of single-nucleotide polymorphisms on 16 phenotypic traits based on longitudinal data
Donghe Li1, Hahn Kang2, Sanghun Lee3
1Interdisciplinary Program in Bioinformatics, Seoul National University, Seoul, Republic of Korea.
Genes & Genomics
|January 6, 2020
Summary
This study found significant genetic influences on longitudinal changes in forced vital capacity in one second (FEV1) in middle-aged adults. Chromosome 2 plays a key role in the genetic variance of these changes.
Area of Science:
- Genetics
- Pulmonology
- Biostatistics
Background:
- Heritability of phenotypic traits is widely studied, but few studies examine longitudinal changes in multiple traits together.
- Longitudinal data analysis is crucial for understanding dynamic changes in health-related traits.
Purpose of the Study:
- To assess the progressive impact of single nucleotide polymorphisms (SNPs) on key health-related phenotypic traits.
- To determine SNP-based heritability using longitudinal data from a large cohort.
Main Methods:
- Utilized data from 6843 individuals in a Korean community-based cohort with a 10-year follow-up.
- Estimated average SNP heritability and longitudinal changes using a two-stage model and genome-wide association study (GWAS).
Main Results:
- All sixteen phenotypic traits showed significant SNP heritability at baseline.
- Forced vital capacity in one second (FEV1) was the only trait with significant SNP heritability in longitudinal changes.
- Chromosome 2 showed the highest heritability for periodic changes in FEV1, with specific SNPs associated with these changes.
Conclusions:
- Genetic factors significantly influence longitudinal changes in FEV1 in the middle-aged general population.
- Chromosome 2 is a major contributor to the genetic variance observed in FEV1 longitudinal changes.
Related Concept Videos
Polygenic Traits
68.7K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
68.7K
Multiple Allele Traits
37.8K
The Concept of Multiple Allelism
37.8K
Single Nucleotide Polymorphisms-SNPs
17.8K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
17.8K
Background and Environment Affect Phenotype
7.3K
Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
7.3K
Pedigree Analysis
88.6K
Overview
88.6K
Incomplete Dominance
29.5K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
29.5K

