Genetic Variations in IGF1 and Mammographic Density
Author Information
Author(s): Rulla M. Tamimi, David G. Cox, Peter Kraft, Michael N. Pollak, Christopher A. Haiman, Iona Cheng, Matthew L. Freedman, Susan E. Hankinson, David J. Hunter, Graham A. Colditz
Primary Institution: Channing Laboratory, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School
Hypothesis
The study examines the association between common genetic variations in the IGF pathway and mammographic density.
Conclusion
Common genetic variation in IGF1 is strongly associated with percentage mammographic density.
Supporting Evidence
- Common haplotype patterns in three of the four haplotype blocks spanning the gene encoding IGF1 were associated with mammographic density.
- Those with the homozygous variant genotype for rs1520220 had a mean percentage mammographic density of 19.6% compared to 27.9% for the homozygous wild-type.
- Permutation testing demonstrated that results as strong as these are unlikely to occur by chance.
Takeaway
This study found that certain genes related to growth factors can affect how dense breast tissue appears on mammograms, which is important for breast cancer risk.
Methodology
A cross-sectional analysis was conducted among 1,121 women from the Nurses' Health Study, examining genetic variations and their association with mammographic density.
Limitations
The study had limited power and was primarily conducted in a Caucasian population, which may affect generalizability.
Participant Demographics
Participants were women aged 42 to 78 years, with 98.8% being Caucasian.
Statistical Information
P-Value
p<0.0001
Statistical Significance
p<0.0001
Digital Object Identifier (DOI)
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