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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.
GWAS does not require the identification of the target gene involved in...
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Incomplete Dominance01:43

Incomplete Dominance

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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.
The complex relationship between genetics and psychology is observable through common biological components such...
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Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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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.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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Pleiotropy01:33

Pleiotropy

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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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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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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Updated: Sep 28, 2025

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
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Genetics of systemic sclerosis.

Yuki Ishikawa1,2, Chikashi Terao2,3,4

  • 1Joslin Diabetes Center, Harvard Medical School, Boston, MA, USA.

Journal of Scleroderma and Related Disorders
|April 6, 2022
PubMed
Summary
This summary is machine-generated.

Systemic sclerosis genetics research has identified numerous genetic markers. Future studies using advanced sequencing and deep phenotyping are crucial for understanding causal variants and improving treatment.

Keywords:
ImmunoChip analysisSystemic sclerosiscandidate gene analysisgeneticsgenome-wide association studygenome-wide significancehuman leukocyte antigen genesnon–human leukocyte antigen genessingle-nucleotide polymorphism

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Area of Science:

  • Immunology
  • Genetics
  • Rheumatology

Background:

  • Systemic sclerosis is a severe autoimmune disease causing fibrosis and organ damage.
  • Its complex etiology involves both environmental and genetic factors.
  • Recent advances have significantly increased the number of identified genetic markers.

Purpose of the Study:

  • To review classical and novel genetic associations in systemic sclerosis.
  • To analyze replicated genetic signals within non-human leukocyte antigen genes.
  • To provide insights into future genetic research directions.

Main Methods:

  • Review of existing literature on systemic sclerosis genetics.
  • Analysis of candidate gene and genome-wide association studies (GWAS).
  • Focus on non-human leukocyte antigen (non-HLA) gene associations.

Main Results:

  • Significant increase in identified genetic markers for systemic sclerosis over the past decade.
  • Replicated genetic signals identified through various genetic approaches.
  • Highlighting the importance of non-HLA genes in disease susceptibility.

Conclusions:

  • Systemic sclerosis genetics is rapidly advancing.
  • Next-generation sequencing and deep phenotyping are essential for future discoveries.
  • Identifying causal variants will enable more targeted and effective treatments.