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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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,...
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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Pleiotropy01:33

Pleiotropy

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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,...
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Incomplete Dominance01:43

Incomplete Dominance

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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.
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Related Experiment Video

Updated: Aug 9, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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Rare genetic variants correlate with better processing speed.

Zeyuan Song1, Anastasia Gurinovich2, Marianne Nygaard3

  • 1Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.

Neurobiology of Aging
|February 22, 2023
PubMed
Summary
This summary is machine-generated.

Researchers identified 17 rare genetic variants linked to faster processing speed in a genome-wide study. These variants, near thyroid hormone receptor genes, suggest a role in cognitive aging and metabolism.

Keywords:
Digit Symbol Substitution TestGenome-wide association studyProcessing speedRare variants

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Area of Science:

  • Genetics and Genomics
  • Cognitive Neuroscience
  • Aging Research

Background:

  • Cognitive aging is a significant area of research, with processing speed being a key indicator.
  • Understanding the genetic underpinnings of cognitive traits like processing speed can provide insights into aging mechanisms.

Purpose of the Study:

  • To conduct a genome-wide association study (GWAS) to identify genetic variants associated with processing speed.
  • To replicate significant findings in independent cohorts to ensure robustness.

Main Methods:

  • A GWAS was performed on 4207 family members from the Long Life Family Study (LLFS) using imputed genotype data (HRC panel, ~15M variants).
  • Results were replicated in two Danish twin cohorts using genotype data imputed to the 1000 Genomes phase 3 reference panel.
  • Gene-level tests were conducted to confirm associations.

Main Results:

  • The study discovered 18 rare genetic variants (MAF < 1.0%) associated with Digit Symbol Substitution Test scores, reaching genome-wide significance (p < 5x10^-8).
  • Seventeen of these variants, located on chromosome 3, demonstrated protective effects on processing speed and were successfully replicated.
  • These significant single nucleotide polymorphisms (SNPs) are situated in or near the THRB and RARB genes, involved in thyroid hormone signaling.

Conclusions:

  • Rare genetic variants in or near THRB and RARB are associated with enhanced processing speed.
  • These findings suggest a potential role for thyroid hormone pathways in cognitive aging and metabolic processes.
  • The identified variants offer targets for future research into the genetic basis of cognitive function and aging.