Question

Which of the following are possibly explanations for a positive result in an association study?

A Population stratification
B You have found the allele that confers risk of your trait of interest
C The allele you have found is in LD with the risk-conferring allele
D It is a false positive caused by the number of markers examined in the study
E All of the above

Answer 1

A positive result in an association study could be because of population stratification, the identification of an actual risk-conferring allele, linkage disequilibrium with a risk allele, or a false positive due to multiple testing.

Step-by-step explanation:

The possible explanations for a positive result in an association study include:

• Population stratification: This refers to differences in allele frequencies between subgroups in a population, which might be mistaken for an association with the disease.
• Allele conferring risk: The identified allele may indeed be the one that increases the risk of the trait or disease being studied.
• Linkage Disequilibrium (LD): The allele in question may be in LD with a risk-conferring allele, meaning they are inherited together more frequently than by chance.
• False positive: The statistical significance could be misleading due to the large number of markers tested.

Each of these explanations illustrates a distinct factor influencing the outcome of an association study, and they demonstrate the complexities behind interpreting genetic data.