Syllabus Edition

First teaching 2025

First exams 2027

Biological: The Genetic Basis of Schizophrenia (AQA A Level Psychology): Revision Note

Exam code: 7182

Claire Neeson

Written by: Claire Neeson

Reviewed by: Cara Head

Updated on

The heritability of schizophrenia & candidate genes

  • Heritability refers to the extent to which a condition or trait has been passed on generationally through families via genes (genetic inheritance)

  • Gottesman (1991) conducted research into the heritability of schizophrenia and found a concordance rate of 48% for schizophrenia between MZ (monozygotic) twins

  • The closer the genetic link between you and someone with schizophrenia, the higher the chance you have of also developing the illness

  • There is no single gene that has (so far) been identified as causing schizophrenia; rather, it is thought that the condition involves the combined effect of several genes, each of which contributes to an increasing risk of developing schizophrenia

  • The genes which may increase a person’s risk of developing schizophrenia are known as candidate genes, and, as there are several of them, schizophrenia is referred to as polygenic

  • 21st-century research into molecular genetics has identified some candidate genes implicated in schizophrenia, e.g. neuregulin 1, dysbindin and proline dehydrogenase (Salleh, 2004)

  • The candidate genes cited in the above bullet point are all implicated in the production and regulation of key mood-related neurotransmitters dopamine, serotonin and glutamate

  • The Human Genome Project (1990–2003) has contributed hugely to understanding the genetic basis of schizophrenia, and it was due to the global scale of this research that much of the current insight into genetics and schizophrenia has been made possible

    Bar chart showing schizophrenia risk by relation: general population 1%, first cousins 2%, uncles/aunts 2%, identical twins 48%; genes shared indicated.
    Gottesman’s (1991) findings show the percentage likelihood of a person developing schizophrenia based on their relationship to each of the groups shown.

Examiner Tips and Tricks

You do not need to identify any specific genes (candidate or otherwise) in an exam question, but you do need to demonstrate that you are confident with the key terminology associated with this topic, e.g., 'heritability', 'concordance rates'and 'polygenic' to elevate your answer.

Research which investigates the genetic basis of schizophrenia

  • McCarroll et al. (2016) analysed the genomes of 65,000 people and 700 postmortem brains and found that the strongest known genetic risk for schizophrenia comes from the gene known as C4 

  • Haraldsson (2011) conducted a meta-analysis, which found strong evidence for the heritability of schizophrenia

    • Some candidate genes, in combination with each other, result in a person having an increased vulnerability to schizophrenia compared to other combinations of candidate genes 

Evaluation of the genetic basis of schizophrenia

Strengths

  • Methods used to measure a genetic explanation for schizophrenia are clinical, objective and not affected by sources of bias such as individual differences, which means that they have good reliability and validity

  • There is now a huge and compelling body of research evidence which points to genetics playing a key role in the development of schizophrenia

Llimitations

  • Genetics is only one explanation of schizophrenia, but it is not the explanation

    • If schizophrenia were purely biological, then concordance rates for MZ twins would be 100%, which no research has ever found

  • The symptoms of schizophrenia are varied and will not present in the same way per person – the absence of a biomarker means that from a genetic perspective, it is very difficult to know definitively if a patient actually has schizophrenia or if they have another disorder altogether

Issues & Debates

  • The genetic explanation exemplifies the nature side of the nature vs nurture debate, suggesting schizophrenia is largely inherited through candidate genes

    • However, the fact that MZ twins only show around 48% concordance (Gottesman, 1991) suggests that environmental (nurture) factors also play a key role

    • The most valid explanation is likely to be interactionist, combining genetic vulnerability with environmental triggers (diathesis–stress model)

  • Focusing on candidate genes as an explanation for schizophrenia is biologically reductionist

    • This is because it simplifies a complex disorder to genetic and neurochemical factors alone

    • This ignores psychological, social, and environmental influences, such as trauma, family dynamics, or life stress, which can also contribute to the disorder

Worked Example

Here is an example of a question you might be asked on this topic which includes AO1 and AO2.

AO1: You need to demonstrate knowledge and understanding of key concepts, ideas, theories and research.

AO2: You need to apply your knowledge and understanding, usually referring to the ‘stem’ in order to do so (the stem is the example given before the question).

Virginia, 33, has been learning about schizophrenia. Although she shows no current symptoms, her doctor has told her that she has a high genetic risk because both of her parents have the condition. This has made Virginia worried about the possibility of passing schizophrenia on to her future children.

Q. Briefly describe the genetic explanation for schizophrenia and explain why Virginia may be right to be concerned about having children.

[8 marks]

AO1 = 4 marks, AO2 = 4 marks

Model answer:

AO1: Outline the genetic explanation for schizophrenia:

  • The genetic explanation suggests that schizophrenia is inherited through genes passed down in families

  • Research by Gottesman (1991) found that the closer the genetic relationship to someone with schizophrenia, the greater the risk of developing it. For example, there is a 6% chance of developing schizophrenia if your parents have it compared to only 2% if your cousin has the disorder

  • Schizophrenia is considered polygenic, meaning it results from the combined effect of many genes (known as candidate genes) [4 marks]

AO2: Apply the explanation to Virginia's concern about having children:

  • Virginia may be right to be concerned because both of her parents have schizophrenia, which suggests she has inherited a high genetic vulnerability so her risk would be significantly higher than average

  • This could mean that her children might also inherit some of the same genetic risk factors, especially if schizophrenia runs strongly in the family

  • However, it’s important to remember that genetics is not the only factor, as environmental influences also play a role, and not everyone with a genetic predisposition will develop the disorder [4 marks]

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Claire Neeson

Author: Claire Neeson

Expertise: Psychology Content Creator

Claire has been teaching for 34 years, in the UK and overseas. She has taught GCSE, A-level and IB Psychology which has been a lot of fun and extremely exhausting! Claire is now a freelance Psychology teacher and content creator, producing textbooks, revision notes and (hopefully) exciting and interactive teaching materials for use in the classroom and for exam prep. Her passion (apart from Psychology of course) is roller skating and when she is not working (or watching 'Coronation Street') she can be found busting some impressive moves on her local roller rink.

Cara Head

Reviewer: Cara Head

Expertise: Biology & Psychology Content Creator

Cara graduated from the University of Exeter in 2005 with a degree in Biological Sciences. She has fifteen years of experience teaching the Sciences at KS3 to KS5, and Psychology at A-Level. Cara has taught in a range of secondary schools across the South West of England before joining the team at SME. Cara is passionate about Biology and creating resources that bring the subject alive and deepen students' understanding