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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 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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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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Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as  SH2...
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Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
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Updates on genetics in systemic sclerosis.

Yuko Ota1, Masataka Kuwana2

  • 1Department of Allergy and Rheumatology, Nippon Medical School Graduate School of Medicine, 1-1-5 Sendagi, Bunkyo-ku, Tokyo, 113-8603-8582, Japan.

Inflammation and Regeneration
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Summary
This summary is machine-generated.

Genetic variants influence systemic sclerosis (SSc) development, primarily impacting immune responses and cell death pathways. Further multi-omics research is crucial for understanding SSc pathogenesis and identifying therapeutic targets.

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Area of Science:

  • Immunology
  • Genetics
  • Rheumatology

Background:

  • Systemic sclerosis (SSc) is a complex autoimmune disease influenced by genetic and environmental factors.
  • Genetic variants, often in noncoding regions, affect gene expression and SSc susceptibility.
  • Current understanding links SSc risk to immune response and cell death genes, with fewer identified in fibrosis or vascular homeostasis.

Purpose of the Study:

  • To investigate the genetic underpinnings of systemic sclerosis (SSc).
  • To explore the relationship between genetic variants and SSc pathogenesis.
  • To identify potential biomarkers and therapeutic targets for SSc.

Main Methods:

  • Review of genetic studies, including candidate gene analysis and genome-wide association studies (GWAS).
  • Analysis of gene variants associated with SSc susceptibility.
  • Consideration of human leukocyte antigen (HLA) class II gene associations.

Main Results:

  • Associated genetic variants are predominantly in noncoding regions, influencing gene expression.
  • Risk variants are linked to innate/adaptive immunity and cell death pathways.
  • HLA class II genes are associated with SSc autoantibodies, not the disease itself.

Conclusions:

  • The genotype-phenotype pathways in SSc remain incompletely understood.
  • Multi-omics technologies are essential for a comprehensive understanding of SSc's molecular architecture.
  • Further research can identify biomarkers for outcome prediction, treatment response, and novel drug targets.