Assignment 3. Complex Traits.

1. Case control study. An allele is studied for its association with genetic disorder. 120
cases (with the genetic condition) were studied and 20 carried the allele. 220 controls
were studied and 20 had the allele Calculate the odds ratio. What does this mean? (2
marks)

120 cases with 20 carrying the allele and 220 controls with 20 having the allele), the
calculated Odds Ratio (OR) is 2. An OR of 2 implies that the odds of having the allele are
twice as high in cases as in controls. This suggests a potential association between the
allele and the genetic condition but does not establish causation.

2. Cohort study. An allele is studied for its association with genetic disorder. In the popu-
lation, 200 out of 500 people with the allele have the condition. 100 out of 300 people
who do not have the allele have the condition. Calculate the relative risk. What does this
mean (2 marks)?

With 200 out of 500 individuals with the allele having the condition and 100 out of 300
without the allele having it, the Relative Risk (RR) is 0.6. This means that the risk of the ge-
netic condition is 60% as high in the group with the allele compared to the group without
it, which might suggest that the allele could be protective against the condition.

3. Find a twin and/or GWAS study on schizophrenia (not a summary but actual research;
give a reference) What is the sample size and population used in the study (1 mark)?
What are the results/conclusions of the study (a summary - 3 marks)? What are the
possible problems/weaknesses with this study (1 mark)? What do these results tell you
about schizophrenia? (1 mark)

For a twin study on schizophrenia, I found a study that utilized the Danish nationwide twin
registry. It included 788 pairs of patients with schizophrenia spectrum disorders, including
448 pairs of schizophrenia patients. This study demonstrated that familial risk for schizo-
phrenia was notably higher in twin pairs with early-onset schizophrenia compared to those
with late-onset. It also found a closer age at onset (AAO) in monozygotic than in dizygotic
twins, underscoring the influence of familial and genetic factors in determining the AAO of
schizophrenia. A significant limitation of this study is its reliance on co-occurrence of phe-
notypes to estimate genetic contributions, without identifying specific genetic variants or
genes. This study contributes to our understanding of schizophrenia by highlighting the ge-
netic and familial factors influencing the disorder, especially regarding early detection and
intervention.

Zhan, N.; Sham, P. C.; So, H.-C.; Lui, S. S. Y. The Genetic Basis of Onset Age in Schizophre-
nia: Evidence and Models. Frontiers in Genetics 2023, 14. https://www.frontiersin.org/jour-
nals/genetics/articles/10.3389/fgene.2023.1163361/full