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Related Concept Videos

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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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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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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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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Lymphocyte Isolation from Human Skin for Phenotypic Analysis and Ex Vivo Cell Culture
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Functional Genomics in Psoriasis.

Stefano Rossi1, Ellie Louise Richards1, Gisela Orozco1

  • 1Centre for Genetics and Genomics versus Arthritis, Division of Musculoskeletal and Dermatological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.

International Journal of Molecular Sciences
|July 13, 2024
PubMed
Summary
This summary is machine-generated.

Psoriasis, an autoimmune skin disease, impacts quality of life. This review explores how genetic risk factors influence gene expression, aiding precision medicine for psoriasis treatments.

Keywords:
GWASfunctional genomicsinflammationprecision medicinepsoriasis

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Area of Science:

  • Dermatology
  • Genetics
  • Immunology

Background:

  • Psoriasis is a prevalent autoimmune skin condition with significant societal and quality-of-life impacts.
  • Genome-wide association studies (GWASs) have identified numerous genetic risk loci associated with psoriasis.
  • Understanding the functional role of these loci is critical for deciphering psoriasis pathogenesis.

Purpose of the Study:

  • To review current findings on the functional genomics of psoriasis risk loci.
  • To integrate insights from molecular biology techniques and high-throughput technologies.
  • To highlight the importance of these tools in identifying novel therapeutic targets for psoriasis.

Main Methods:

  • Review of existing literature on psoriasis genetics and functional genomics.
  • Discussion of established molecular biology techniques, including Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR).
  • Integration of high-throughput technologies for gene expression analysis.

Main Results:

  • Genetic risk loci play a significant role in the complexity of psoriasis.
  • Functional genomics approaches are essential for understanding gene expression alterations in psoriasis.
  • CRISPR and high-throughput technologies offer powerful means to investigate these mechanisms.

Conclusions:

  • Elucidating the function of psoriasis risk loci is key to understanding disease mechanisms.
  • Advanced molecular tools are crucial for dissecting gene expression changes in psoriasis.
  • This knowledge is vital for developing targeted therapies and advancing precision medicine in dermatology.