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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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.
GWAS does not require the identification of the target gene involved in...
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,...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
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: May 14, 2026

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

Genetic susceptibility to SLE: recent progress from GWAS.

Yong Cui1, Yujun Sheng, Xuejun Zhang

  • 1Department of Dermatology and Venereology, Anhui Medical University, Hefei, Anhui 230032, China.

Journal of Autoimmunity
|February 12, 2013
PubMed
Summary

Genome-wide association studies have identified over 40 genetic loci predisposing individuals to systemic lupus erythematosus (SLE), a complex autoimmune disease. These findings offer insights into SLE pathogenesis and potential avenues for personalized treatment.

Related Experiment Videos

Last Updated: May 14, 2026

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

Area of Science:

  • Immunology
  • Genetics
  • Rheumatology

Background:

  • Systemic lupus erythematosus (SLE) is a complex autoimmune disorder with significant genetic influence, affecting predominantly women and leading to multi-organ damage.
  • Genetic factors are crucial in SLE pathogenesis, with previous studies identifying susceptibility genes through linkage and candidate gene approaches.

Purpose of the Study:

  • To review key genetic loci associated with SLE identified through genome-wide association studies (GWASs).
  • To explore the role of these loci in SLE pathogenesis and their potential implications for diagnosis and treatment.

Main Methods:

  • Genome-wide association studies (GWASs) have been instrumental since 2008 in identifying SLE susceptibility loci.
  • Analysis of identified loci and their associated molecular pathways.

Main Results:

  • Over 40 robust SLE susceptibility loci have been identified via GWASs.
  • These loci are involved in critical pathways like immune complex processing, toll-like receptor signaling, and type I interferon production.
  • Some identified loci have unknown functions, suggesting novel molecular mechanisms in SLE development.

Conclusions:

  • Genetic loci identified through GWASs provide etiological clues for SLE development.
  • These findings may form the basis for future genetic diagnosis and personalized therapies for SLE patients.
  • Further functional studies are necessary to confirm the causality and biological relevance of these genetic variants in SLE.