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Related Concept Videos

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.
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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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Ras and Rho are small monomeric GTPases that act downstream of receptor tyrosine kinase (RTK) and regulate various cellular processes. These GTPases switch between active and inactive states by binding to guanine nucleotides.
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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Updated: Jun 26, 2025

An Immunohistopathologic Study to Profile the Folate Receptor Beta Macrophage and Vascular Immune Microenvironment in Giant Cell Arteritis
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Risk loci involved in giant cell arteritis susceptibility: a genome-wide association study.

Gonzalo Borrego-Yaniz1, Lourdes Ortiz-Fernández1, Adela Madrid-Paredes2

  • 1Institute of Parasitology and Biomedicine López-Neyra, Consejo Superior de Investigaciones Científicas (CSIC), Granada, Spain.

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Summary

This study identified new genetic risk factors for giant cell arteritis (GCA), a vasculitis affecting older adults. Findings highlight the role of angiogenesis and suggest potential new treatments and genetic risk prediction for GCA.

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Area of Science:

  • Genetics
  • Immunology
  • Vascular Biology

Background:

  • Giant cell arteritis (GCA) is an age-related vasculitis impacting large arteries in individuals over 50.
  • Current diagnostic and therapeutic options for GCA are limited, necessitating a deeper understanding of its pathogenesis.
  • Genome-wide association studies (GWAS) are instrumental in elucidating the genetic underpinnings of complex diseases like GCA.

Purpose of the Study:

  • To characterize the genetic basis of GCA through the largest GWAS conducted to date.
  • To investigate the functional consequences and clinical implications of identified GCA risk loci.
  • To explore potential therapeutic targets and predictive tools for GCA.

Main Methods:

  • Meta-analysis of genomic data from 3,498 GCA patients and 15,550 controls of European ancestry across ten cohorts.
  • Functional assessments including cell enrichment analysis, fine-mapping, and causal gene prioritization.
  • Drug repurposing analysis and development of a polygenic risk score (PRS) for GCA risk prediction.

Main Results:

  • Identification of three novel GCA risk loci: MFGE8 and VTN (angiogenesis-related) and CCDC25 (neutrophil extracellular trap-related).
  • Association of GCA with the HLA region and PLG, with variants playing regulatory roles in immune cells.
  • A PRS model effectively identified individuals at increased risk for GCA (90th percentile OR 2.87).

Conclusions:

  • The study reveals additional genetic loci for GCA, emphasizing the critical role of angiogenesis in disease susceptibility.
  • Genomic findings offer a pathway toward improved clinical practice for GCA, including novel therapeutic strategies and genetic predisposition assessment.