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How Genetics and Evolution Shape Psychological Vulnerability
Abnormal Psychology · Chapter 3: Biological Underpinnings of Psychological DisordersSection 3.4 · lesson 12 of 9718 min · free with a free account
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In this lesson
What each design can establish, what heritability actually means, and what it never means.
- Explain how genetic influence is studied, and what each design establishes
- Interpret heritability correctly, and identify the common misreadings
- Separate gene-environment interaction from gene-environment correlation
- State the evolutionary account, and its testability problem
Transcript
Everything said in the video, section by section (2,461 words). Read along, or search it.
Biological Underpinnings of Psychological Disorders
How Genetics and Evolution Shape Vulnerability
Conditions run in families. Everybody knows that, and almost everybody misreads it. This section is about what the evidence actually establishes. How genetic influence is studied, design by design. What each one buys you, and what each one cannot separate. Then heritability, which is the single most misquoted statistic in psychology. We define it precisely, and then correct six common misreadings of it. Then two relationships between genes and environments that get confused constantly. Interaction, and correlation. They are not the same thing. And finally, why vulnerabilities persisted at all, if they reduce functioning. That last account is interesting, and it has a testability problem we will name.
Before You Begin
Two Statements That Govern Everything Here
Two notes before we begin, and then two statements that govern the whole section. This material is educational. It is not a basis for assessing family risk. Nor for any reproductive or medical decision. Genetic counseling is a specialist role, and real questions belong with one. Now the two governing statements. Heritability is a statistic about variation within a population. It is not a statement about any individual person. It never tells you what proportion of someone's condition was genetic. And heritability within a population says nothing about differences between populations. Genetic material has historically been used to support fatalism and hereditary blame. And eugenic reasoning, and claims about group differences. None of those is supported by anything here. Each is a misuse of the evidence.
Vocabulary
The Distinction That Does the Most Work
A gene is a stretch of DNA carrying instructions for building a protein. Or for regulating when other genes are active. Genes are arranged along chromosomes, the thread-like structures inside almost every cell. Humans typically have twenty-three pairs. One member of each pair is inherited from each parent. Most genes come in several versions, and a version is called an allele. Because chromosomes come in pairs, a person carries two alleles of most genes. Now the distinction that does more work than any other idea here. The genotype is the person's genetic make-up. The phenotype is the observable characteristic that results. And the phenotype depends on the genotype, on the environment, and on their interaction. Two people with identical genotypes can have different phenotypes. And two people with different genotypes can have the same phenotype. So any sentence that slides between the two has already gone wrong. She has the gene for it is that sentence.
Polygenic
There Is No Gene for Any Condition Here
For a small number of physical conditions, a single gene determines the outcome. Inherit the relevant variant, and the condition follows. It is natural to expect psychological conditions to work the same way. Decades of searching established that they do not. Psychological conditions are polygenic. Influenced by very many genes, each contributing a small amount. The number of contributing variants is large. Current estimates for common conditions run to hundreds or thousands of variants. Each individual effect is very small. No single common variant raises risk by a clinically meaningful amount on its own. Knowing a person's status at any one of them tells you almost nothing. And the same variants are implicated across different conditions. Genetic influence does not respect diagnostic boundaries. Which connects directly to the comorbidity problem from chapter one. If the same variants contribute to several categories, the categories may be cut wrongly. So here is a phrase to retire. There is no gene for depression, for anxiety, or for any condition in this course. Reports of such a discovery concern one small-effect variant among thousands. Or they have been overstated in the retelling.
Families And Twins
What Runs in Families, and Why That Is Not Enough
A family study compares the rate of a condition among relatives of affected people. Against the rate in the general population. If the condition is genetically influenced, closer relatives should show higher rates. Such studies reliably find elevated rates, and that is genuine information. It establishes that the condition runs in families. And it tells a clinician that family history is worth asking about. But there is a confound it cannot remove. Families share more than genes. They share housing, income, neighborhood, diet, stress, parenting, language, religion. And the experience of living alongside someone who is unwell. Any one of those could produce familial clustering with no genetic contribution at all. A twin study compares two kinds of twin pair. Monozygotic twins develop from a single fertilized egg, sharing essentially all genetic material. Dizygotic twins develop from two separate eggs. They share on average about half of the genetic variation that varies between people. The comparison is elegant. Both kinds of pair are the same age. Born to the same parents, and usually raised in the same household. So what differs systematically is the proportion of genetic material shared. Concordance is the probability that, given one twin has a condition, the other does too. Higher concordance in monozygotic pairs is the standard evidence for genetic contribution. It rests on the equal-environments assumption, and that word assumption matters. Identical twins are often treated more alike, and share more friends and activities. Researchers have tested the assumption, and the results broadly support it without settling it.
Designs
Each Buys Information at the Price of a Limitation
An adoption study examines people raised apart from their biological relatives. Which separates the two things a family study confounds. If adopted children resemble their biological parents more than their adoptive ones. Genetic influence is indicated. If the reverse, environmental influence is. The design is powerful, and it carries its own limitations. Adoptive families are screened, and are therefore unrepresentative. Typically more stable and better resourced than average. That restricts the range of environments sampled. And it can make environmental influence look smaller than it is. Placement is also often not random, since agencies may match children to families. And the prenatal environment is shared with the biological mother, and is not genetic. The strongest available design combines the two. Monozygotic twins reared apart. Such pairs are rare, so those studies are small and carry the sampling limits. Worth remembering, since they are also the studies most often cited in popular accounts. Each buys a specific piece of information at the price of a specific limitation. No row establishes that a genetic variant causes a condition in a person. These designs answer questions about variation in populations.
Molecular
What a Polygenic Score Can and Cannot Do
The designs so far establish that genetic influence exists. Without identifying any of the genes involved. Molecular methods attempt the identification. A genome-wide association study compares the frequency of very many variants. Between people with a condition, and people without it, looking for differences. It requires very large samples, precisely because the effects are small. Its results are what established the polygenic picture. An associated variant is not necessarily a causal one. It may simply sit near a causal variant on the chromosome. A polygenic score sums the small effects of many variants into a single number. Indicating where a person sits on a distribution of estimated genetic risk. What such scores can currently do is predict, weakly, average differences between groups. What they cannot do is predict whether a particular person will develop a condition. The distributions overlap enormously. A person with a high score is more likely than not to remain well. And a person with a low score can become unwell. One further limit. Most scores were derived in populations of European ancestry. They predict considerably worse in others. That is a limitation of the samples, and not a finding about populations. Which is why consumer genetic testing reports about psychological traits require caution. They rest on exactly the weak individual prediction just described.
Defined Precisely
Heritability Is About Variation, Not About You
Now heritability, defined precisely, because the definition is doing all the work. Heritability is the proportion of the variation in a characteristic. Within a specific population, at a specific time. That is statistically attributable to genetic variation within that population. It is about variation. About a population. At a specific time. And it is statistical. Now note what it does not contain. It says nothing about any individual. It is not a proportion of a person's condition. And it is not a measure of how genetic something is in any everyday sense. Take an illustration. Suppose a condition has a heritability of zero point four zero. That means about forty percent of the differences between people in that population. Are statistically associated with genetic differences between them. It does not mean forty percent of any person's condition is genetic. That is not a coherent statement. And it does not mean forty percent of people with the condition inherited it. Heritability also changes with how much environments vary. Where everyone shares a similar environment, environmental variation is small. So a larger share of the remaining differences is attributed to genes, and heritability rises. Which means high heritability can indicate an equal environment. As readily as it indicates a strong genetic effect. And now the point that matters most, stated without hedging. Heritability within a population says nothing whatever about differences between populations. A characteristic can be highly heritable within each of two groups. While the average difference between the groups is entirely environmental. That is the specific error historically used to give cover to claims about group differences. And it is a matter of logic rather than of politics.
Corrected
Six Misreadings, and What to Say Instead
Six misreadings recur, so take them one at a time. This condition is forty percent genetic. Wrong, because heritability describes variation between people. Not a proportion of anything within a person. Her condition was forty percent caused by her genes. Wrong, because it applies a population statistic to an individual, where it has no meaning. High heritability means the environment does not matter. It confuses the source of variation with the possibility of change. A highly heritable characteristic can be substantially changed by an environmental intervention. Heritability is fixed for a condition. Wrong. It depends on how much environments vary in the population studied. It is heritable in both groups, so the difference between them is genetic. Wrong. Within-group heritability carries no information about between-group differences. And finally, high heritability means a strong genetic effect. Wrong. A uniform environment reduces environmental variation. Which inflates the proportion attributed to genes. Notice that four of those six share one root. Treating a statement about variation between people as a statement about something inside a person.
Two Relationships
Interaction, and Correlation - Persistently Confused
Two relationships between genes and environments recur, and they are constantly confused. Gene-environment interaction occurs when the effect of an environment depends on genotype. Or equivalently, when the effect of a genotype depends on the environment. Suppose two genotype groups show almost identical outcomes when adversity is low. While at high adversity, one group shows much worse outcomes than the other. Neither the genotype alone nor the adversity alone predicts the outcome. The combination does. That is what interaction means. Gene-environment correlation is a different thing entirely. It occurs when genotype influences which environments a person encounters. So the two are not independent to begin with. Three routes are conventionally distinguished. Passive. Parents provide both the genes and the environment. So a child inherits a predisposition and a household shaped by the parents who have it. Evocative. A person's characteristics draw particular responses from other people. An irritable child evokes different parenting than a placid one. Active. As people gain autonomy, they select environments matching their dispositions. An anxious adolescent may avoid the very situations that would reduce the anxiety. The distinction has a clean test. In interaction, the environment arrives independently of the genotype, and the two combine. In correlation, the genotype affects which environment arrives in the first place. And the practical consequence is large. Correlation means an apparently environmental finding may be partly genetic in origin.
Mechanism And Origin
Epigenetics, and Why Vulnerabilities Persist
Epigenetics is the study of changes in gene expression. Which genes are switched on or off, and how strongly. Changes that do not involve any alteration to the DNA sequence itself. The distinction is between the text, and which parts of it are being read. A way experience could produce lasting biological change. Stress, nutrition, and early care are associated with epigenetic differences. And those differences can persist. It is also among the most overclaimed topics in current popular science. Much of the strongest evidence comes from animal studies. Human studies typically measure marks in blood, while the tissue of interest is the brain. And claims about inheritance across human generations are contested. Now a different question. If these vulnerabilities reduce functioning, why do they persist? Trait-level advantage. The underlying traits may be useful at moderate levels. Vigilance, caution, and low mood after loss may each carry benefits mid-range. Mismatch. The environments in which human responses developed are not the ones we inhabit. On that account the response is not faulty. The environment changed faster. And normal defensive systems misfiring. A system costly to under-use and cheap to over-use will be tuned to fire often. Which predicts frequent false alarms as normal operation, rather than as failure. But state the testability problem as a real limitation, not a footnote. Evolutionary explanations are constructed after the fact, about events nobody observed. A flexible enough account can be produced for almost any characteristic. Including, if the finding had gone the other way, its opposite. An explanation that could accommodate any result forbids nothing.
A Composite Family
Three Generations, and Why the Pattern Settles Nothing
One composite family, constructed for instruction, describing no real family. Priya is twenty-six, and is assessed for persistent low mood that began at twenty-two. Her mother had a long period of similar difficulty in her thirties. Her maternal grandmother was described within the family as having had bad nerves. And rarely left the house in later life. Priya's older brother has had two episodes of low mood. She describes her childhood as marked by her mother's illness. Including periods when her mother could not get out of bed. And when Priya took on the care of her brother. Now, why does that pattern settle nothing? Three generations show the difficulty. That is what genetic transmission would produce. It is also exactly what environmental transmission would produce. The family shares genes. It also shares a household, an income, and a neighborhood. And critically, the experience of growing up alongside a parent who was unwell. Priya's childhood caregiving role is an environmental exposure. Transmitted by the condition itself, rather than by DNA. Gene-environment correlation is present too, in its passive form. Her mother provided both the genes and the environment shaped by having the condition. What evidence would separate them? An adoption design, or a twin design. None of these is available for this family. And none would answer the question the family is actually asking. Two points to reproduce. The family pattern is genuinely informative. It establishes familial transmission, and Priya's presentation should be reviewed. It simply cannot distinguish the route, and more family detail would not help. And the clinical implication does not depend on which route predominates. Which is a reason to describe the pattern as raised risk, rather than as an inheritance.
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