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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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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 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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Updated: Aug 16, 2025

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
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A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility.

Federica Esposito1,2, Ana Maria Osiceanu1, Melissa Sorosina1

  • 1Laboratory of Human Genetics of Neurological Disorders, Institute of Experimental Neurology (INSpe), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.

Genes
|December 23, 2022
PubMed
Summary

Rare genetic variants in the GRAMD1B gene are associated with multiple sclerosis (MS). This gene, expressed in brain cells and immune cells, shows reduced levels in MS lesions, suggesting a role in disease.

Keywords:
multiple sclerosisneurologyrare variantssequencing

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Area of Science:

  • Genetics
  • Neuroimmunology
  • Rare genetic variants

Background:

  • Common genetic variants' role in multiple sclerosis (MS) is well-established through genome-wide association studies.
  • The contribution of rare genetic variants to MS susceptibility remains largely unknown.
  • Investigating rare variants is crucial for a comprehensive understanding of MS genetic architecture.

Purpose of the Study:

  • To identify rare genetic variants contributing to multiple sclerosis (MS) susceptibility.
  • To investigate the role of the GRAMD1B gene in MS pathophysiology.
  • To explore the expression and function of GRAMD1B in the central nervous system (CNS) and immune cells.

Main Methods:

  • Whole-genome sequencing was performed on a consanguineous Italian family with multiple affected individuals.
  • The GRAMD1B gene was sequenced in additional familial MS cases and healthy controls.
  • Functional studies assessed GRAMD1B expression in CNS and peripheral cells and its regulation by inflammatory stimuli.

Main Results:

  • A novel missense variant (c.1801T > C) in GRAMD1B was identified in MS cases within a linkage peak.
  • Additional rare GRAMD1B variants, including missense and splice-site mutations, were found in familial MS cases.
  • GRAMD1B is expressed in neurons, astrocytes, microglia, monocytes, and macrophages; its expression is downregulated in active MS lesions and by inflammatory stimuli.

Conclusions:

  • Rare variants in the GRAMD1B gene represent potential risk factors for multiple sclerosis.
  • GRAMD1B downregulation in MS lesions and inflammatory conditions suggests a role in disease pathogenesis.
  • Further research into GRAMD1B's function in the CNS and immune system is warranted for understanding MS.