Milk:

Friend or Foe?
Heritability of lactose intolerance severity

























Danielle Minji Jung
Honors 221B
March 15, 2016
--
Independent Research Project

Abstract
This study examines whether the degree of lactose intolerance is heritable from parents to
offspring. In an online survey, 96 participants reported their personal and parental degrees of lactose
intolerance, which was assessed by the number of milk products that could be consumed with no
discomfort. A best-fit line for the results had a slope of 0.68, which suggested evidence for the heritability
of lactose intolerance severity. More studies, which address shared family environment variables, are
needed before any conclusions are drawn on how heritable the degree of lactose intolerance is.

Introduction
Despite the plethora of cheeses, ice creams, and other tasty diary products conveniently located at
the closest grocery store, normal humans are not built to digest lactose, a key ingredient found in milk
products. Milk production is unique to mammals, and is dedicated to nourishing their young (John Wiley
2002). In normal human development, infants produce an enzyme called lactase, which specializes in
breaking down milk lactose so it can be digested. On average, people stop producing this lactase enzyme
between the ages two and five years old (Hesler 2009). Consuming milk without this key enzyme means
that lactose ends up in the colon, undigested (Hesler 2009). Lactose intolerance is normal in humans, and
about 60% of the world is intolerant (Hesler 2009). The other 40% of the people have a mutation that
promotes producing the lactase enzyme into adulthood. These individuals are called absorbers, because
they are able to digest the lactose with their own lactase enzyme.
While it is well established that lactose intolerance is genetically inherited, I wanted to explore
the extent of its heritability and the variation in degree of lactose intolerance. Even though a whole family
may share the genes that stop producing lactase, individuals vary in their ability to comfortably digest
milk products. I wanted to see how much of this variation in digestion was heritable, and how much was
due to other factors such as the environment. I hypothesized that the degree of lactose intolerance is not
heritable. If the lactase gene is simply turned on or off during adulthood, then it is reasonable to predict
that variations in lactose intolerance are not due to genes but other factors like the environment. I predict
different diets, arrays of gut bacteria, and surroundings may impact the degree of lactose intolerance and
individuals abilities to comfortably digest milk products.

Methods
To gather data for this study, I first needed to quantify the degree of lactose intolerance. To do
this, I identified six different milk products with lactose. Ability to consume a number of the milk
products without discomfort scored an individuals lactose intolerance severity. An absorber individual,
who produces the lactase enzyme into adulthood, easily consumes all the milk products and scores the

maximum six points. On the other hand, severely lactose intolerant individuals would have very few milk
products that could be consumed comfortably, and would have a lower score. On the survey, participants
were asked to check off how many milk products they personally could eat without discomfort, as well as
for each of their biological parents. Participants also reported their age group and gender. Surveys were
advertised over social media and email. In total, 96 surveys were collected.
Once I gathered individual responses to the survey, I calculated the midparent lactose score by
averaging the parents scores. Finally, I created scatterplot of the midparent lactose score and
corresponding offspring lactose score. I hypothesized that the degree of lactose intolerance is not
heritable. If this hypothesis is correct, then midparent and offspring scores will not resemble each other.
The scatterplot of data would look random and without a clear pattern. Also, the line of best-fit would
have a slope close to 0 (Fig 1). On the other hand, if my hypothesis is incorrect, then offspring should
strongly resemble their parents. In this case, the scatterplot would display a clear association between
midparent and offspring lactose intolerance scores. In addition, the line of best fit would have a slope
close to 1 (Fig 2). If both genetics and other factors like environment play a role in the degree of lactose
intolerance, then we would expect the results to be at some intermediate value between the two
predictions. There would be a slight pattern observed in the scatterplot, and the slope would in between 0
and 1 (Fig 3).

Results
After analyzing the survey responses, I found that midparent and offspring lactose scores were
associated. The scatterplot displayed a pattern in which higher midparent lactose scores corresponded
with higher offspring scores as well (Fig 4). This means that parents with less severe lactose intolerance
had children also with less severe lactose intolerance. The slope of the best-fit line was 0.68, which is
closer to a slope of 1 than 0. These findings are not consistent with my original hypothesis that the degree
of lactose intolerance is not heritable. My results produced a slope of 0.68, which is intermediate between
my expected predictions of a correct and incorrect hypothesis. In this case, the scatterplot most strongly

resembled the slope and pattern found in the intermediate prediction than with the original hypothesis and
alternate hypothesis.

Discussion
From these results, we can conclude that genetics may play a role in determining the degree of
lactose intolerance. There is sufficient evidence to reject the hypothesis that degree of lactose intolerance
is not heritable at all. However, I have not conducted enough statistical tests to conclude whether these
findings are even statistically significant. Furthermore, from these results, it is impossible to verify that
parent and offspring associations are truly due to genetics. Families often share similar diets, food
preferences, and environments as well as genes. Because this study did not consider shared environment
as a variable, we cannot draw any firm conclusions on the heritability of lactose intolerance.
In this study, the number of survey responses was a particular strength. With 96 participants,
there were enough data points to fit an acceptable trend line. In addition, the survey limited differences in
how people interpret different milk products by specifying certain portion sizes. Each of the food items
was described in a single, standardized serving size. On the other hand, there were numerous weaknesses
to this study. Firstly, the survey neglected to account for participants who couldnt consume any of the
milk products without discomfort. There was no option to choose none of the foods, and therefore, the
lowest score possible was a 1, instead of a 0. This was a huge limitation to this study, and undoubtedly
affected the slope of the best-fit line and the parent-offspring associations. In addition, the survey didnt
include sibling data. Comparing midparent data to mid-offspring data would have been more ideal for the
study. Another limitation to my study was how I measured the degree of lactose intolerance. Those who
are lactose tolerant would earn a lactose score of 6. However, because they are lactose tolerant, they
shouldnt be included in the degree of lactose intolerance. Those who are lactose tolerant necessarily
inherited this trait from their parents, so including these individuals skews my data set to favor the null
hypothesis. This scatterplot shows the data when participants with lactose scores of six (presumed to be
lactose tolerant) were removed from the results (Fig 5).

Another interesting question I want to explore is how diet affects lactose intolerance. Are certain
diets more compatible with consuming milk products over others? I hypothesize that diets high in
probiotics may result in more favorable gut conditions for lactose breakdown. To test this question, I
would again design a survey that assessed a lactose score and level of probiotics in the diet. If this
hypothesis is correct, then those who eat high-probiotic diets should have less severe lactose intolerance
and higher lactose scores. Under this hypothesis, there would be a clear association and a slope close to 1
(Fig 6). But if the hypothesis is incorrect, then there should be no association between probiotic diets and
degree of lactose intolerance. There should be a slope close to 0, or perhaps a negative slope (Fig 7).

Figure 1: If My Hypothesis is Correct

Degree of Lactose Intolerance is Not

Heritable
Offsping Lactose Score

7
6
5
4
3
2
1
y = -0.1238x + 4.1679

0
0

Midparent Lactose Score

If the degree of lactose intolerance is not heritable, then there should be little association between
midparent values and offspring values. In this case, the slope is close to 0, and the data points are
assorted randomly.
Figure 2: If My Hypothesis is Incorrect

Offspring Lactose Score

Degree of Lactose Intolerance is

Heritable
7
6
5
4
3
2
1

y = 0.8058x + 0.9094

0
0

Midparent Lactose Score

If the degree of lactose intolerance is heritable, then there should be a clear association between
midparent and offspring lactose scores. The slope should be closer to 1.

Figure 3: Intermediate Prediction

Offspring Lactose Score

Degree of Lactose Intolerance is Partly

Heritable
7
6
5
4
3
2

y = 0.5302x + 1.5413

1
0
0

Midparent Lactose Score

If the degree of lactose intolerance is partly heritable, then there should be an intermediate association
between midparent and offspring lactose scores. The slope of the best-fit line should be an intermediate
value between 0 and 1.
Figure 4: Actual Results

Midparent vs. Offspring

Degree of Lactose Intolerance
Offspring Lactose Score

7
6
5

y = 0.6834x + 1.0995

4
3
2
1
0
0

Midparent Lactose Score

There is a slight association between midparent and offspring lactose scores. A slope of 0.68 is in
between 0 and 1. Higher lactose scores mean that those individuals have less severe lactose intolerance.

Figure 5: Results without participants who scored a lactose score of 6

Midparent vs Offsping Lactose

Intolerance--Amended
Offspring Lactose Score

7
6
5
4

y = 0.3471x + 2.1032

3
2
1
0
0

Midparent Lactose Score

Assuming that offspring (participants) who recorded a lactose score of 6 are lactose tolerant, they were
removed from this data set to remove bias towards the null hypothesis that degree of lactose intolerance
is heritable. With a lower slope of .35, the original observations (Fig 4) may have been biased.
Figure 6: Hypothesis is CorrectNew Study

If hypothesis is correct, then those with a high probiotic diet will be able to consume more milk products
and have a higher lactose score than those with a low probiotic diet.

Figure 7: Hypothesis is IncorrectNew Study

If the hypothesis is incorrect, then there will be no difference between in lactose scores between those
who eat a low and high probiotic diet.
References
Heiser, James. 2009. Study Links Ethnicity and Lactose Intolerance. The New American.
http://www.thenewamerican.com/tech/environment/item/6712-study-links-ethnicity--lactoseintolerance