Q1. With reference to endometriosis and genomic research, consider the following statements:
- A Genome-Wide Association Study (GWAS) can identify genomic regions statistically associated with a disease even when the identified variants are not themselves established as causal.
- The transferability of a genetic risk score across populations can be influenced by differences in genetic ancestry and population-specific genetic architecture.
- Identification of multiple genetic regions associated with endometriosis establishes that endometriosis is primarily an inherited genetic disorder.
- Inclusion of under-represented populations in genomic studies can improve the generalisability of findings across different populations.
Which of the statements given above are correct?
A. Only two
B. Only three
C. All four
D. Only one
Answer: B
Explanation:
- 1 is correct: GWAS establishes statistical association, not necessarily causation.
- 2 is correct: Risk scores developed in one population may perform differently in another because of differences in genetic architecture and ancestry.
- 3 is incorrect: Endometriosis is multifactorial; genetic susceptibility interacts with other biological and environmental factors.
- 4 is correct: South Asian-specific data can make genomic findings more representative and potentially more useful across diverse populations.
