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Genome-wide Association Studies-GWAS01:11

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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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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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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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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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Author Spotlight: Enhancing Rheumatoid Arthritis Research Through HR-pQCT Imaging Analysis
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Shared Genetic Architecture Between Rheumatoid Arthritis and Varying Osteoporotic Phenotypes.

Melody Kasher1, Maxim B Freidin2, Frances Mk Williams2

  • 1Human Population Biology Research Unit, Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|December 15, 2021
PubMed
Summary

This study found shared genetic factors between rheumatoid arthritis (RA) and osteoporosis (OP), indicating pleiotropy. These findings suggest potential new therapeutic targets and screening methods for both conditions.

Keywords:
BONE MINERAL DENSITYCOLOCALIZATIONOSTEOPOROSISPLEIOTROPYRHEUMATOID ARTHRITIS

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Area of Science:

  • Genetics
  • Rheumatology
  • Endocrinology

Background:

  • Rheumatoid arthritis (RA) and low bone mineral density (BMD), a marker for osteoporosis (OP), are epidemiologically linked.
  • Shared genetic factors are hypothesized to underlie the observed association between RA and OP.

Purpose of the Study:

  • To investigate pleiotropy, the phenomenon where a single gene influences multiple traits.
  • To clarify the potential genetic association between RA and OP phenotypes.

Main Methods:

  • Utilized UK Biobank data for BMD at various skeletal sites.
  • Analyzed OP fracture data from the GEFOS Consortium and TwinsUK study.
  • Employed PRSice-2 for assessing genetic overlap and colocalization analysis for identifying shared causal variants.

Main Results:

  • PRSice-2 identified significant associations between RA and OP fracture, total BMD, spine BMD, and forearm BMD.
  • Colocalization analysis revealed 12 genes (e.g., TNFAIP3, TRAF1) with shared causal variants for both RA and OP.
  • Moderate posterior probabilities (>50%) supported the presence of pleiotropy.

Conclusions:

  • Pleiotropy plays a role in the association between RA and OP.
  • Findings enhance understanding of disease mechanisms for RA and OP.
  • Results offer insights into potential therapeutic advancements and improved screening strategies for these conditions.