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What is a Genetic Variant?

A genetic variant is a difference in DNA sequence among individuals or populations. These variations in our genetic code contribute to our uniqueness and play a crucial role in understanding human diversity, disease susceptibility, and various aspects of health and wellness.

Types of Genetic Variants

Genetic variants can be categorized into several types:

  1. Single Nucleotide Polymorphisms (SNPs): Pronounced "snips”, these are changes in a single DNA building block (nucleotide) and the most common type of genetic variant. This is the type of variant BioLEV’s analytics focus on.
  2. Insertions and Deletions (Indels): Addition or removal of one or more nucleotides.
  3. Structural Variants (SVs): Large-scale changes affecting more than 1 kilobase of DNA.
  4. Copy Number Variants (CNVs): Variations in the number of copies of a particular gene or DNA segment.

How are variants characterized?

By Nucleotide

A SNP occurs when a single nucleotide (A, T, C, or G) in the genome sequence is replaced by another nucleotide. In general, for a variation to be considered a SNP, it must occur in at least 1% of the population.

By Location

SNPs can occur in various regions of the genome, including coding regions of genes, non-coding regions of genes, and intergenic regions (between genes). Within coding regions, SNPs can be further classified as synonymous SNPs, which do not affect the protein sequence, and nonsynonymous SNPs, which change the amino acid sequence of the protein. This diversity in location and impact contributes to the complexity of genetic variation and its effects on biological processes.

Implications of Genetic Variants

SNPs have significant implications for various aspects of health, wellness, and performance:

Wellness and Health

  1. Optimal Health Indicators: Some SNPs are associated with favorable health outcomes and can indicate potential for optimal health. For example, several gene variants have been linked to longevity and healthy aging. Other variants are associated with high aerobic performance, indicating good cardiovascular health.
  2. Personalized Medicine: SNPs can help predict an individual's response to specific foods, physical training or drugs, allowing for tailored treatment plans.
  3. Risk Factors: Certain SNPs are associated with increased risk for specific disorders or ailments, enabling early intervention and prevention strategies.

Performance Optimization

  1. Athletic Performance: Specific SNPs can indicate potential for superior athletic performance. Clear examples include specific variants associated with enhanced endurance performance. Other SNPs have been linked to power and sprint performance.
  2. Endurance Capacity: Combinations of SNPs can predict endurance potential including VO2 max and other endurance-related metrics.
  3. Strength and Power: Certain SNPs are indicators of strength and power capacity; while others have been associated with various types of strength (e.g. handgrip strength).
  4. Cognitive Performance: Some SNPs are linked to enhanced cognitive abilities across several capabilities including short- and long-term memory, mental flexibility and others.

Nutrition

  1. Nutrient Metabolism: Some SNPs affect how the body processes certain nutrients, influencing dietary needs and performance. For example, specific variants influence caffeine metabolism, affecting an individual's response to caffeine intake.
  2. Food Sensitivities: Specific SNPs may be associated with intolerances or sensitivities to certain foods.
  3. Weight Management: Certain genetic variants can influence metabolism and body composition, affecting weight management strategies.

Exercise Response

  1. Training Adaptation: SNPs can influence how individuals respond to different types of training. For example, certain variants are associated with better adaptation to endurance training.
  2. Injury Risk: Certain genetic variants may indicate a predisposition to specific types of sports injuries.
  3. Recovery: SNPs can influence how quickly an individual recovers from exercise, affecting optimal training regimens.

Analyzing SNPs

BioLEV's analysis of SNPs involves several steps:

  1. DNA Sequencing: Identifying the specific nucleotides present at known SNP locations.
  2. Genotyping: Determining which variants an individual carries.
  3. Data Interpretation: Analyzing the potential impact of identified SNPs on various health and wellness factors.

Additional Considerations

While SNPs provide valuable insights, it's important to consider several factors. Most health outcomes are influenced by multiple genes and environmental factors, not just single SNPs. Additionally, SNP frequencies can vary significantly between different populations, affecting their predictive value. It's also worth noting that the field of genetics is rapidly evolving, and our understanding of SNPs continues to grow, emphasizing the need for ongoing research and interpretation.