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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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Adolescents from ethnic minority backgrounds face a multifaceted journey in forming their identities, shaped by the intersections of cultural expectations and personal exploration. For these adolescents, identity formation involves not only typical developmental challenges but also navigating the perceptions and attitudes of the majority culture. As they grow, adolescents in ethnic minority groups often become increasingly aware of stereotypes, social biases, and discrimination, all of which...
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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Related Experiment Video

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Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
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Multi-ethnic genome-wide association study for atrial fibrillation.

Carolina Roselli1, Mark D Chaffin1, Lu-Chen Weng1,2

  • 1Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Nature Genetics
|June 13, 2018
PubMed
Summary

This study identified 97 genetic regions linked to atrial fibrillation (AF), a common heart rhythm disorder. These findings reveal new biological pathways and potential therapeutic targets for AF.

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Area of Science:

  • Genetics
  • Cardiology
  • Genomics

Background:

  • Atrial fibrillation (AF) affects over 33 million people globally and has complex genetic underpinnings.
  • Understanding the genetic basis of AF is crucial for developing effective treatments.

Purpose of the Study:

  • To conduct the largest genome-wide association study (GWAS) meta-analysis for AF to date.
  • To identify novel genetic loci and genes associated with AF.
  • To explore the biological pathways implicated in AF pathogenesis.

Main Methods:

  • Performed a meta-analysis of GWAS including over 500,000 individuals (65,446 with AF).
  • Conducted RNA-sequencing and expression quantitative trait locus (eQTL) analyses on left atrial samples.
  • Performed transcriptome-wide association studies.

Main Results:

  • Identified 97 loci significantly associated with AF, with 67 novel loci in combined-ancestry analysis and 3 novel loci in European-specific analysis.
  • Identified 57 AF-associated genes through transcriptome-wide analyses, with 42 overlapping GWAS loci.
  • Discovered that identified loci implicate genes enriched in cardiac development, electrophysiology, and structural pathways.

Conclusions:

  • This study significantly expands the number of known AF-associated genetic loci.
  • The findings provide insights into the biological mechanisms underlying AF, particularly involving cardiac development and function.
  • The identified genes and pathways offer potential targets for future AF therapeutic development.