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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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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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Angiotensin-converting enzyme (ACE), a vital component of the renin-angiotensin-aldosterone system, is abundant in lung endothelial cells. ACE converts the inactive decapeptide, angiotensin I, into the active octapeptide, angiotensin II. This potent vasoconstrictor narrows blood vessels, increasing resistance to blood flow and elevating blood pressure. Angiotensin II also stimulates aldosterone production, encouraging kidney cells to reabsorb more sodium and water from urine, thereby increasing...
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Hypertension is a chronic condition in which the blood's force against artery walls is excessively high, posing risks such as heart disease. The condition's underlying mechanisms involve complex interactions among the cardiovascular, kidney, and autonomic nervous systems.Renin-Angiotensin-Aldosterone System (RAAS): This system significantly influences blood pressure regulation. When blood pressure decreases, the kidneys secrete renin. This enzyme transforms angiotensinogen, a plasma protein,...
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Correlation between angiotensin-converting-enzyme 2 gene polymorphisms and systemic sclerosis.

Bartosz Miziołek1, Celina Kruszniewska-Rajs2, Joanna Gola2

  • 1Department of Dermatology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland. bmiziolek@gmail.com.

Clinical and Experimental Rheumatology
|July 5, 2023
PubMed
Summary
This summary is machine-generated.

Genetic variations in the angiotensin-converting-enzyme 2 (ACE2) gene are linked to systemic sclerosis (SSc) development and cardiovascular risks. Specific ACE2 polymorphisms influence arterial hypertension and disease characteristics in SSc patients.

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Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Rheumatology

Background:

  • Systemic sclerosis (SSc) is a connective tissue disease characterized by cardiovascular impairment.
  • Polymorphisms in the angiotensin-converting-enzyme 2 (ACE2) gene have been associated with arterial hypertension (AH) and cardiovascular (CVS) diseases in various populations.

Purpose of the Study:

  • To investigate the association between three single nucleotide polymorphisms (SNPs) of the ACE2 gene (rs879922, rs2285666, and rs1978124) and the development of SSc.
  • To explore the relationship between these ACE2 polymorphisms and clinical manifestations in SSc patients.

Main Methods:

  • Genomic DNA was extracted from whole blood samples of SSc patients.
  • Genotyping for rs1978124 was performed using restriction-fragment-length polymorphism, while rs879922 and rs2285666 were detected using TaqMan SNP Genotyping Assays.
  • Serum ACE2 levels were quantified using an ELISA test.

Main Results:

  • Allele C of rs879922 was associated with an increased risk of AH (OR=2.5, p=0.018) but less joint involvement.
  • Carriers of allele A for rs2285666 showed a tendency towards earlier onset of Raynaud's phenomenon and SSc, with a lower risk of CVS disease (RR=0.4, p=0.051) and less gastrointestinal involvement.
  • Women with the AG genotype of rs1978124 exhibited more frequent digital tip ulcers and lower serum ACE2 levels.

Conclusions:

  • ACE2 gene polymorphisms may contribute to the development of AH and CVS disorders in SSc patients.
  • Specific ACE2 polymorphisms are associated with distinct clinical characteristics in SSc, including macrovascular involvement.
  • Further research is warranted to elucidate the significance of ACE2 polymorphisms in the pathogenesis and clinical course of SSc.