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Genetic Archaeology
GENETIC ARCHAEOLOGY // PROFILE

AMY1

Amylase Alpha 1

CHR 1
1p21.1

Overview

The AMY1 gene encodes for salivary amylase, an enzyme responsible for the initiation of starch digestion in the mouth. Unlike many other genes, the number of AMY1 copies (Copy Number Variation) varies greatly between individuals – between 2 and 16 copies.

📍 Position
1p21.1 (Chromosome 1)
🏷️ Category
Metabolism
⚡ Inheritance
Autosomal dominant
📊 Frequency
~20% have ≤4 copies, ~20% have ≥10 copies

Function & Significance

Salivary amylase begins the digestion of starch (complex carbohydrates from bread, pasta, rice, potatoes) right in the mouth. The number of AMY1 genes (copy number) determines how much amylase enzyme is produced:

💡 Fun Fact: People with agricultural ancestors (grain farmers) often have more AMY1 copies than populations with traditionally meat-rich diets.

What does your copy number mean?

🍞 2-5 Copies (Low)

Starch digestion in the mouth is slower. Carbohydrates are released more gradually, leading to more stable blood sugar levels. These individuals often feel better on low-carb diets.

🥖 6-16 Copies (High)

Fast and efficient starch digestion. Better carbohydrate metabolism, but rapid blood sugar rise after high-carb meals.

🧬 Copy Number Variation (CNV)

Unlike classic SNPs (single letter changes), AMY1 involves Copy Number Variation – the number of gene copies varies between people:

AMY1 Copy Number
1:103681000
2-16
Copies per genome

Low (2-5): Poorer starch digestion, slower blood sugar rise, possible benefit from low-carb diet.

High (6-16): Efficient starch digestion, faster blood sugar rise, better carbohydrate metabolism.

⚠️ Clinical Significance: Studies show that people with low AMY1 copy numbers (≤4) have an increased risk of obesity and metabolic syndrome when consuming a high-carb diet. Adjusting the diet to one’s genetic disposition can be beneficial here.

🍽️ Personalized Nutrition

Based on your AMY1 genetics, nutritional recommendations can be derived:

For low copy number:

  • Use more protein-rich alternatives
  • Prefer complex carbohydrates
  • Low-carb or moderate carb intake may be better
  • Combine carbohydrates with protein/fat

For high copy number:

  • Well-suited for high-carb diets
  • Quick energy available from starch
  • Watch for blood sugar spikes (high GI)
  • Regular physical activity is important

📚 Data Sources

  • OMIM: #104700
  • dbSNP: AMY1 Copy Number Variation
  • PubMed: Falchi et al. (2014) – “Low copy number of the salivary amylase gene predisposes to obesity”
  • PubMed: Perry et al. (2007) – “Diet and the evolution of human amylase gene copy number variation”
  • Nature Genetics: Studies on AMY1-CNV and metabolic risk

Last update: February 2026

Biological Function

Salivary amylase breaks down starch from bread, pasta, rice, and potatoes into simpler sugars in the mouth. People with high AMY1 copy numbers (10-16 copies) produce more amylase and digest starch more efficiently. Low copy numbers (2-4) lead to slower digestion.

Associated Conditions

Increased obesity risk with low copy number and high-carb diet Glucose Intolerance Metabolic Syndrome
Molecular Analysis

Analyzed Markers

AMY1-CNV Modifier
Pos: 1:103681000 | Alleles: 2-5/6-16

Copy Number Variation - Low copies (2-5): Poorer starch digestion. High copies (6-16): Efficient starch digestion, stronger blood sugar rise after carbs.