Study of Genetic Variations in Inflammatory Response Genes
Author Information
Author(s): Huang Han-Yao, Thuita Lucy, Strickland Paul, Hoffman Sandra C, Comstock George W, Helzlsouer Kathy J
Primary Institution: Johns Hopkins Bloomberg School of Public Health
Hypothesis
How do allele frequencies of SNPs in inflammatory response genes compare between a community-based population and public databases?
Conclusion
Larger sample sizes are needed for public databases to accurately reflect allele frequencies in non-Caucasian populations.
Supporting Evidence
- Only 1 out of 33 SNPs differed from the SNP500Cancer database in allele frequency by more than 10% in Caucasians.
- 12 SNPs differed by more than 10% in African Americans.
- Genotype frequencies did not differ by sex except for a few SNPs with minor differences.
Takeaway
This study looked at how common certain genetic variations are in a large group of people and found that public databases might not represent everyone accurately.
Methodology
The study compared allele frequencies of 49 SNPs in a community-based cohort of 9,960 individuals to those reported in public databases.
Potential Biases
Potential over-matching by age or sex in association studies could skew results.
Limitations
The number of African American participants was limited, which may affect the generalizability of the findings.
Participant Demographics
Mean age was 53.2 years; 98% were Caucasian and 62% were women.
Digital Object Identifier (DOI)
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