DNA Lactose Intolerance Test

This test determines whether or not an individual has inherited any of the common genetic changes that enable lactase persistence and decrease the risk of lactose intolerance.

What is lactose intolerance?
Lactose intolerance is the reduced ability to digest and absorb the milk sugar lactose, due to decreased production of the lactase enzyme. This causes digestive symptoms like gas, bloating and diarrhea. This may be a temporary reduction of lactase (e.g. after surgery or illness) or a permanent reduction, often due to genetic variation.

What is lactase persistence?
Lactase persistence is the opposite to lactose intolerance. Lactase persistent individuals are able to produce the lactase enzyme for their entire lives, meaning they can continue to consume dairy products right through adulthood.

How is lactose digested?
The lactase enzyme is responsible for the digestion of the lactose sugar found in dairy products. Lactase is produced in the small intestine and breaks down lactose into two smaller and more readily absorbable sugars – glucose and galactose.

Symptoms of lactose intolerance
Lactose intolerance causes undigested lactose to build up in the large intestine, resulting in the growth of gas-producing gut bacteria. Lactose intolerance symptoms include:

  • Bloating
  • Flatulence
  • Diarrhea
  • Nausea
  • Vomiting
  • Abdominal pain or cramps
  • Gurgling and rumbling sounds from the abdomen

How common is lactose intolerance?
The likelihood of lactose intolerance depends on ethnicity. Lactose intolerance is the wild type phenotype (the “norm”) and the variants providing lactase persistence occurred, and were selected for, when there was an increased reliance on dairy as a food source. Many ethnicities are predominantly lactose intolerant, including 90% of Asian Americans, 70% of African-Americans, 95-100% of Native Americans and 50% of Mexican-Americans. In contrast, less than 25% of Caucasians and only about 5% of people of Northern European ancestry are lactose intolerant, due to an increased reliance on dairy as a food staple in the past.

Genetics of lactose intolerance and lactase persistence

The MCM6 gene encodes a protein that controls the production of other proteins, including lactase, encoded by the nearby LCT gene. Five genetic variants in the regulatory MCM6 gene are the most common genetic variations allowing for lactase persistence:

  • rs41525747, -13907C>G
  • rs4988235, -13910C>T
  • rs41380347, -13915T>G
  • rs145946881, -14010G>C
  • rs182549, -22018G>A

Individuals with at least one of these variants are unlikely to suffer from lactose intolerance, while individuals that do not carry any of these variants have an increased risk of lactose intolerance.

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