Related Experiment Video

Updated: Jun 4, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

Absence of association between two HECTD2 polymorphisms and sporadic Creutzfeldt-Jakob disease

Byung-Hoon Jeong1, Kyung-Hee Lee, Yun-Jung Lee

  • 1Ilsong Institute of Life Science, Hallym University, Anyang, South Korea.

Dementia and Geriatric Cognitive Disorders
|February 22, 2011
PubMed

Insights

This study found no significant association between two HECTD2 gene polymorphisms and sporadic Creutzfeldt-Jakob disease (CJD) in the Korean population. These HECTD2 variants do not appear to influence genetic susceptibility to CJD in this Asian group.

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • HECT E3 ubiquitin ligases are crucial in cellular processes and disease pathogenesis, including neurodegenerative disorders.
  • HECTD2, a specific E3 ubiquitin ligase, has been implicated in prion disease and Creutzfeldt-Jakob disease (CJD) susceptibility in some populations.

Purpose of the Study:

  • To determine if two specific HECTD2 gene polymorphisms (-247G→A and +16066T→A) are associated with sporadic CJD in Koreans.
  • To investigate the potential role of HECTD2 in the genetic susceptibility to sporadic CJD within an Asian demographic.

Main Methods:

  • Genotyping of two HECTD2 polymorphisms (rs7081363 and rs12249854) was performed.
  • Frequencies of genotypes, alleles, and haplotypes were compared between 205 sporadic CJD patients and 208 healthy Korean controls.

Main Results:

  • No significant differences were found in the genotype or allele frequencies of the studied HECTD2 polymorphisms between sporadic CJD patients and controls.
  • Haplotype frequency analysis also revealed no significant association between these HECTD2 polymorphisms and sporadic CJD in the Korean population.

Conclusions:

  • The investigated HECTD2 polymorphisms (-247G→A and +16066T→A) are not associated with genetic susceptibility to sporadic CJD in Koreans.
  • This study represents the first genetic association analysis of HECTD2 with sporadic CJD in an Asian population, providing important insights into disease genetics.
Abstract

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Genetic Lingo01:11

Genetic Lingo

Overview
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Incomplete Dominance01:43

Incomplete Dominance

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.
Pleiotropy01:33

Pleiotropy

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,...