Related Experiment Video
Updated: Jan 24, 2026
05:54
MRI-guided Focused Ultrasound Thalamotomy for Patients with Medically-refractory Essential Tremor
Published on: December 13, 2017
14.8K
IL1B polymorphism is associated with essential tremor in Chinese population
Jie Chen1, Pei Huang1, Yachao He1
1Department of Neurology & Co-innovation Center of Neuroregeneration, Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, 200025, China.
BMC Neurology
|May 17, 2019
Summary
Genetic factors for essential tremor (ET) were studied in a Chinese population. A specific single nucleotide polymorphism (SNP) in the IL1B gene, rs1143633, was significantly associated with increased ET risk.
Area of Science:
- Neurogenetics
- Human Genetics
- Population Genetics
Background:
- Essential tremor (ET) is a common neurological disorder with an unclear genetic basis.
- Investigating genetic risk factors in diverse populations like the Chinese population is crucial for understanding ET etiology.
Purpose of the Study:
- To identify genetic risk factors associated with essential tremor (ET) in the Chinese population.
- To explore the association between specific gene polymorphisms and ET susceptibility.
Main Methods:
- Recruited 225 ET patients and 229 controls from the Chinese population.
- Utilized Polymerase Chain Reaction (PCR) and sequencing to analyze 12 single nucleotide polymorphisms (SNPs) in seven candidate genes.
- Applied statistical analysis, including Bonferroni correction, to assess SNP associations with ET risk.
Main Results:
- Identified a significant association between the IL1B gene polymorphism rs1143633 and essential tremor (ET) risk in the Chinese population (OR=2.57, p=0.003).
- The association remained significant after Bonferroni correction, particularly in a recessive genetic model.
- Expression quantitative trait loci (eQTL) analysis indicated that rs1143633 genotype correlates with IL1B gene expression in brain tissues (putamen and white matter).
Conclusions:
- This study provides the first evidence of an association between IL1B gene polymorphism (rs1143633) and essential tremor (ET) risk in the Chinese population.
- The identified SNP may serve as a marker for ET risk, though it may not be the direct causal variant.
- Further research is warranted to validate these findings and elucidate the functional role of IL1B in ET pathogenesis.
Related Concept Videos
01:25Compounds Essential to Human Function
10.1K
The human body is composed of cells that are fundamentally made up of several different molecules. These molecules are essential to carry out all physiological processes in the body and are broadly classified into organic and inorganic based on their chemical structures.
Inorganic Compounds Essential to Human Functioning
Inorganic compounds essential to human functioning include water, salts, acids, and bases. These compounds are inorganic, i.e., they do not have a carbon-hydrogen bond. Water...
Inorganic Compounds Essential to Human Functioning
Inorganic compounds essential to human functioning include water, salts, acids, and bases. These compounds are inorganic, i.e., they do not have a carbon-hydrogen bond. Water...
10.1K
01:31Essential Minerals for Bone Health
6.2K
The minerals contained in all of the food we consume are essential for our organ systems. However, certain essential minerals, such as calcium, phosphorus, magnesium, manganese, and fluoride, largely affect bone health.
Calcium and Phosphorus
Calcium is a critical component of bones, especially in the form of calcium phosphate and calcium carbonate. Since the body cannot make calcium, it must be obtained from the diet. However, calcium cannot be absorbed from the small intestine without...
Calcium and Phosphorus
Calcium is a critical component of bones, especially in the form of calcium phosphate and calcium carbonate. Since the body cannot make calcium, it must be obtained from the diet. However, calcium cannot be absorbed from the small intestine without...
6.2K
02:04Conservation of Small Populations
16.7K
Small population sizes put a species at extreme risk of extinction due to a lack of variation, and a consequent decrease in adaptability. This weakens the chances of survival under pressures such as climate change, competition from other species, or new diseases. Large populations are more likely to survive pressures such as these, as such populations are more likely to harbor individuals that have genetic variants that are adaptive under new stresses. Small populations are much less...
16.7K
01:25What is Population Genetics?
64.5K
A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
64.5K
00:57Population Growth
28.1K
Population size is dynamic, increasing with birth rates and immigration, and decreasing with death rates and emigration. In ideal conditions with unlimited resources, populations can increase exponentially, which plots as a J-shaped growth rate curve of population size against time. This type of curve is characteristic of newly-introduced invasive species, or populations that have suffered catastrophic declines and are rebounding.
28.1K
01:05Single Nucleotide Polymorphisms-SNPs
18.0K
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,...
18.0K