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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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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.
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Human Genetics01:28

Human Genetics

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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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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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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,...
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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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The genetics of systemic sclerosis.

Sandeep K Agarwal1

  • 1Division of Rheumatology and Clinical Immunogenetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston, 6431 Fannin, MSB 5.270, Houston, Texas 77030, USA. Sandeep.K.Agarwal@uth.tmc.edu

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Summary

Genetic studies reveal key genes contributing to Systemic sclerosis (SSc), an autoimmune disease causing fibrosis. Identifying these genetic factors advances understanding of SSc pathogenesis and future research directions.

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Area of Science:

  • Immunology
  • Genetics
  • Rheumatology

Background:

  • Systemic sclerosis (SSc), or scleroderma, is an autoimmune condition marked by progressive fibrosis in skin and organs.
  • The exact pathogenesis of SSc is complex and involves polygenic factors.

Purpose of the Study:

  • To review recent research on genetic susceptibility to Systemic sclerosis.
  • To highlight key genes and genetic regions implicated in SSc development.

Main Methods:

  • Review of candidate gene studies.
  • Analysis of genome-wide association studies (GWAS).

Main Results:

  • Candidate gene studies identified immunoregulatory genes like BANK1, IL23R, IRF5, STAT4, TBX21, and TNFSF4.
  • A GWAS identified CD247 (CD3-zeta) as a novel genetic risk factor for SSc susceptibility.

Conclusions:

  • Genetic association studies have significantly improved the understanding of SSc pathogenesis.
  • These findings provide a basis for future research into the complexities of SSc genetics.