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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

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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.
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Pharmacogenomics: Identification of New Drug Targets01:29

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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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.
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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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Author Spotlight: Novel Assay for Studying B-Cell Responses in Multiple Sclerosis Research
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Multiple sclerosis genetics is dead.

Christopher H Hawkes1

  • 1Neuroscience Centre, Blizard Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, 4 Newark Street, London E1 2AT, UK.

Multiple Sclerosis and Related Disorders
|April 17, 2015
PubMed
Summary
This summary is machine-generated.

The genetic theory for multiple sclerosis (MS) is questioned, suggesting its role may be overstated. Research indicates environmental factors warrant more attention for understanding MS causes.

Keywords:
EpigeneticsEpistasisGenome wide association studiesMultiple sclerosisTwin studiesVitamin D

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Area of Science:

  • Neuroimmunology
  • Genetics
  • Epidemiology

Background:

  • The genetic basis of multiple sclerosis (MS) is a long-standing area of research.
  • Existing theories propose a significant genetic contribution to MS etiology.
  • However, several aspects of the genetic theory remain contentious and require critical evaluation.

Purpose of the Study:

  • To review and critically assess the evidence supporting the genetic theory of multiple sclerosis (MS).
  • To question the value of classifying MS as a 'complex disease' based solely on familial aggregation.
  • To evaluate the reliability of data from twin studies and genome-wide association studies (GWAS) in establishing MS genetic links.

Main Methods:

  • Literature review and critical analysis of existing studies on MS genetics.
  • Examination of data from twin studies and genome-wide association studies (GWAS).
  • Discussion of the implications of discordant monozygotic twins and the roles of epigenetics and epistasis.

Main Results:

  • The concept of MS as a 'complex disease' lacks substantial value.
  • Data from twin studies suggesting a '30% genetic basis' for MS are derived from highly variable sources.
  • Genome-wide association studies (GWAS) have yet to definitively prove the existence of specific MS-related genes.
  • Evidence from discordant monozygotic twins challenges the notion of a strong genetic predisposition.

Conclusions:

  • The contribution of genetics to multiple sclerosis (MS) etiology may be overestimated.
  • Current evidence does not conclusively support a primary genetic basis for MS.
  • Future research should prioritize investigating environmental factors in the causation of MS.