Related Experiment Video
Updated: Jan 3, 2026
10:17
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
23.3K
Two functional variants at 6p21.1 were associated with lean mass
Yu-Fang Pei1,2, Wen-Zhu Hu3, Xiao-Lin Yang2,4
1Department of Epidemiology and Health Statistics, School of Public Health, Medical College, SuZhou City, People's Republic of China.
Skeletal Muscle
|November 24, 2019
Summary
This study identified two genetic variants at 6p21.1 linked to leg lean mass, offering insights into the genetic factors influencing muscle development and sarcopenia risk.
Area of Science:
- Genetics
- Molecular Biology
- Human Physiology
Background:
- Low lean body mass is a key predictor of sarcopenia, a condition with a significant genetic component.
- Understanding the genetic underpinnings of lean mass development is crucial for addressing sarcopenia.
Purpose of the Study:
- To identify genetic factors associated with lean mass development.
- To investigate the functional roles of identified genetic variants in regulating lean mass.
Main Methods:
- Genome-wide association study (GWAS) of fat-adjusted leg lean mass in large cohorts (Framingham Heart Study, WHI-AA, KCOS).
- Replication and cross-validation of significant single nucleotide polymorphisms (SNPs) with body mass index (BMI) data.
- Functional investigations including cis-eQTL analysis, electrophoretic mobility shift assay (EMSA), and dual-luciferase reporter assay.
Main Results:
- Identified four correlated SNPs at 6p21.1 associated with leg lean mass at genome-wide significance.
- Replicated and cross-validated these SNPs across multiple cohorts and BMI data.
- Demonstrated allelic-specific regulatory effects of two functional variants (rs524533, rs571770) on NFKBIE gene expression, downregulating promoter activity.
Conclusions:
- Identified two functional genetic variants at 6p21.1 associated with leg lean mass.
- Enhanced understanding of the molecular basis of lean mass development.
- Provided candidate genes for future research into sarcopenia and muscle mass regulation.
More Related Videos
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
10.3K
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
34.5K
Related Concept Videos
01:33Pleiotropy
43.1K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.1K
02:41Lethal Alleles
17.6K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
17.6K
01:19X-linked Traits
58.1K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
58.1K
02:30Histone Variants at the Centromere
4.9K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
4.9K
01:05Single 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
01:18Polygenic 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