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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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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: Dec 31, 2025

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
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Association of DIAPH1 gene polymorphisms with ischemic stroke.

Zhanyun Ren1, Xiaotian Chen2,3, Wuzhuang Tang1

  • 1Department of Neurology, Affiliated Yixing People's Hospital of Jiangsu University, People's Hospital of Yixing City, Yixing 214200, China.

Aging
|January 4, 2020
PubMed
Summary
This summary is machine-generated.

Genetic variations in DIAPH1 (diaphanous-related formin 1) are linked to increased ischemic stroke risk. DIAPH1 gene expression is reduced in stroke patients, particularly in the small artery occlusion subtype.

Keywords:
DIAPH1mRNApolymorphismsstroke

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Area of Science:

  • Genetics and Genomics
  • Cardiovascular Diseases
  • Molecular Biology

Background:

  • DIAPH1, a formin protein, is crucial for actin polymerization and plays a role in vascular remodeling and thrombosis.
  • Understanding the genetic basis of hypertension and stroke is vital for developing targeted prevention and treatment strategies.

Purpose of the Study:

  • To investigate the association between DIAPH1 single-nucleotide polymorphisms (SNPs) and the risk of hypertension and stroke.
  • To analyze DIAPH1 mRNA expression levels in ischemic stroke patients.

Main Methods:

  • Case-control study involving 2,012 hypertensive patients, 2,210 controls, 2,966 stroke cases (including ischemic and hemorrhagic subtypes), and 2,590 controls.
  • Cohort study with 4,098 individuals.
  • Comparison of DIAPH1 mRNA expression between 66 ischemic stroke patients (small artery occlusion and large-artery atherosclerosis subtypes) and 58 controls using logistic and Cox regression analysis.

Main Results:

  • The rs7703688 T>C variation in DIAPH1 was significantly associated with an increased risk of ischemic stroke (OR: 1.721, P=4.139×10⁻¹²).
  • This association was validated in the cohort study, with adjusted hazard ratios of 1.385 (P=0.049) for the additive model and 2.882 (P=0.042) for the recessive model.
  • DIAPH1 mRNA expression was significantly downregulated in ischemic stroke patients. A trend towards increased DIAPH1 expression was observed in the small artery occlusion subtype among rs251019 genotypes (P=0.048).

Conclusions:

  • DIAPH1 genetic variations contribute to the genetic susceptibility to stroke risk, particularly the small artery occlusion subtype of ischemic stroke.
  • Reduced DIAPH1 expression in stroke patients suggests a potential role in the disease's pathogenesis.