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Related Concept Videos

Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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,...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

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Related Experiment Video

Updated: Jun 18, 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

[The VDR gene polymorphism in patients with multiple sclerosis].

S A Babenko, V M Alifirova, Iu Iu Orlova

    Zhurnal Nevrologii I Psikhiatrii Imeni S.S. Korsakova
    |November 7, 2009
    PubMed
    Summary

    This study links Vitamin D Receptor (VDR) gene variants to multiple sclerosis (MS) risk. Specific VDR alleles and haplotypes, like the t allele and Bft haplotype, may increase susceptibility and influence MS disease presentation.

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    Last Updated: Jun 18, 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

    Area of Science:

    • Immunogenetics
    • Neuroimmunology
    • Endocrinology

    Background:

    • Multiple sclerosis (MS) pathogenesis involves complex immune mechanisms.
    • Vitamin D acts as a crucial immunoregulator via the Vitamin D Receptor (VDR).
    • VDR gene polymorphisms are potential genetic factors influencing MS susceptibility and clinical course.

    Purpose of the Study:

    • To investigate genotype and haplotype frequencies of VDR polymorphisms in relation to MS.
    • To determine the association between specific VDR variants and MS risk.
    • To explore the influence of VDR polymorphisms on clinical manifestations and immunological markers in MS patients.

    Main Methods:

    • Case-control study design.
    • Analysis of VDR (Vitamin D Receptor) gene polymorphisms (T/t, B/b, F/f).
    • Statistical analysis of genotype and haplotype frequencies, and their association with MS, eosinophil counts, ESR, IgG levels, and CD16+ cell numbers.

    Main Results:

    • The VDR T/t variant showed a significant association with MS (p<0.05) and eosinophil counts in MS patients (p<0.05).
    • VDR B/b and F/f variants were linked to ESR, IgG levels, and CD16+ cell counts (p<0.05).
    • The Bft haplotype was associated with a higher risk of MS compared to the btT variant.

    Conclusions:

    • The VDR t allele and Bft haplotype may contribute to increased susceptibility to multiple sclerosis.
    • These VDR genetic variants might influence the clinical presentation and immunological characteristics of MS.