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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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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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Hypertension I: Introduction01:28

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Hypertension is a widespread, long-term medical condition where blood pressure in the arteries remains elevated. It is characterized by systolic blood pressure readings of 130 mm Hg or above or diastolic blood pressure (DBP) readings of 80 mm Hg or higher. Unmanaged hypertension poses significant health risks, making the distinction between primary (or essential) hypertension and secondary hypertension crucial, as their management and implications vary.Primary HypertensionPrimary hypertension,...
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Human Genetics01:28

Human Genetics

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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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Hypertension III: Clinical Manifestations and Diagnostic Studies01:30

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Hypertension is asymptomatic and also referred to as the "silent killer" until it progresses to a severe stage or causes target organ disease. Patients may experience symptoms stemming from the strain on blood vessels and tissues in various organs or the heart's increased workload.Physical exams might show no abnormalities other than high blood pressure. Signs of vascular damage, when present, correspond to the organs supplied by the affected vessels, leading to target organ damage. For...
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Genetic-Based Hypertension Subtype Identification Using Informative SNPs.

Yuanjing Ma1, Hongmei Jiang1, Sanjiv J Shah2

  • 1Department of Statistics, Northwestern University, Evanston, IL 60208, USA.

Genes
|October 30, 2020
PubMed
Summary
This summary is machine-generated.

This study identifies distinct hypertension subtypes in African Americans and Caucasians using genetic data. These genetic subtypes show significant differences in cardiac mechanics, paving the way for targeted therapies.

Keywords:
NMFclustering algorithmhypertensionsubtype identificationvariable selection

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Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Statistical Genomics

Background:

  • Hypertension subtypes are not well-defined genetically.
  • Understanding genetic variations is crucial for personalized medicine in hypertension.

Purpose of the Study:

  • To develop a process for selecting informative genetic variants.
  • To identify clinically meaningful hypertension subtypes using genetic data.
  • To analyze genetic subtypes in African American and Caucasian populations.

Main Methods:

  • Genome-Wide Association Studies (GWAS) on 575 African Americans and 612 Caucasians.
  • Application of statistical methods including generalized linear models and burden tests.
  • Unsupervised learning (non-negative matrix factorization) to identify genetic subtypes.
  • Kruskal-Wallis tests to assess clinical meaningfulness.

Main Results:

  • Two distinct hypertension subtypes were identified in both African Americans and Caucasians.
  • Cardiac mechanics indices significantly differed between subtypes in both racial groups.
  • Despite higher genetic complexity in African Americans, distinct subtypes were identified.

Conclusions:

  • A novel statistical process effectively selects genetic variants for subtype identification.
  • Genetically defined hypertension subtypes have distinct clinical characteristics.
  • This approach offers a promising direction for developing targeted hypertension therapies.