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Related Concept Videos

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,...
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...
Human Genetics01:28

Human Genetics

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.
The complex relationship between genetics and psychology is observable through common biological components such...
Incomplete Dominance01:43

Incomplete Dominance

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.
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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 30, 2026

Vasodilation of Isolated Vessels and the Isolation of the Extracellular Matrix of Tight-skin Mice
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Vasodilation of Isolated Vessels and the Isolation of the Extracellular Matrix of Tight-skin Mice

Published on: March 24, 2017

[Genetics in scleroderma].

Lara Bossini-Castillo1, José-Ezequiel Martín, Lina Marcela Díaz-Gallo

  • 1Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, España.

Reumatologia Clinica
|July 29, 2011
PubMed
Summary
This summary is machine-generated.

Systemic sclerosis (SSc) genetics research has advanced, identifying key genes beyond the HLA region. Genome-wide association studies (GWAS) are now crucial for understanding SSc

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Area of Science:

  • Immunogenetics
  • Autoimmune Diseases
  • Complex Genetic Diseases

Context:

  • Systemic sclerosis (SSc) is a complex autoimmune disease influenced by genetic and environmental factors.
  • Initial genetic studies focused on HLA region alleles, but broader associations are emerging.
  • Previous research was limited by small sample sizes and lack of replication.

Purpose:

  • To review recent advances in the genetics of systemic sclerosis.
  • To present findings on candidate genes outside the HLA region.
  • To highlight the contribution of Genome-Wide Association Studies (GWAS) to SSc research.

Summary:

  • Recent advances in genotyping and data analysis have enabled powerful Genome-Wide Association Studies (GWAS) for complex diseases like SSc.
  • Studies are now exploring candidate genes involved in autoimmunity, endothelial dysfunction, and fibrosis beyond the HLA region.
  • GWAS are providing new insights into the molecular mechanisms underlying SSc predisposition.

Impact:

  • Enhanced understanding of the genetic architecture of Systemic Sclerosis.
  • Identification of novel genetic factors contributing to SSc pathogenesis.
  • Foundation for future research into SSc molecular mechanisms and therapeutic targets.