Abstract 5603: Common genetic variations in VDR, CYP27B1 and CYP24A1 genes and breast cancer risk in African American and European American women in the Women's Circle of Health Study
Bibliographic record
Abstract
Abstract Common single nucleotide polymorphisms (SNPs) in vitamin D receptor (VDR) have been examined with breast cancer risk in populations of European ancestry. Because of the striking differences in vitamin D levels and in SNP linkage disequilibrium (LD) between African Americans (AA) and European Americans (EA), it is hypothesized that associations of VDR SNPs with breast cancer risk may differ by race. A total of 67 multi-population tagSNPs in the VDR, CYP27B1 and CYP24A1 genes were genotyped in 928 breast cancer cases (547 AA and 381 EA) and 843 controls (461 AA and 382 EA) recruited through the Women's Circle of Health Study (WCHS), a case-control study based in New York City and seven counties in New Jersey. Cochran-Armitage test for trend was used for single SNP analysis, and LD block-based haplotype analysis was performed, with multiple comparisons corrected by permutation. In addition, 25-hydroxyvitamin D (25OHD) levels were measured in the banked serum samples from 242 AA and 187 EA healthy women. Four VDR SNPs were associated with breast cancer risk in AA women, and rs2239186 remained significant (p=0.03) after multiple comparison correction. Women with the AG/GG genotype of rs2239186 had a lower risk of breast cancer (OR=0.53, 95% CI=0.35-0.79) than those with the AA genotype, consistent with a three-SNP haplotype carrying the G allele of rs2239186 (OR=0.55, 95% CI=0.38-0.81) in AA women. In EA women, 2 SNPs in the VDR gene and 3 SNPs in the CYP24A1 gene were associated with breast cancer risk. EA women with the TT genotype of the VDR SNP rs11608702 had a significantly increased risk (OR=1.88, 95% CI=1.14-3.09), which were confirmed in an analysis of a two-SNP haplotype carrying the T allele (OR=1.44, 95% CI=1.12-1.85). In addition, a four-SNP haplotype in the CYP24A1 gene was associated with reduced cancer risk in EA women (OR=0.67, 95% CI=0.51-0.88). When stratified by menopausal status, the association of rs7975232 in VDR in EA women was stronger in postmenopausal women (OR=2.24, 95% CI=1.19-4.21); and the association of another VDR SNP rs886441 in AA women was stronger in premenopausal women (OR=2.27, 95% CI=1.32-3.90). Lastly, we found significant differences in 25OHD levels between AA and EA women; the least square mean and standard error were 14.9±0.5 vs 21.4±0.6 ng/mL (p<0.0001), respectively, after adjusting for age, BMI and season of blood collection. Dietary intake of vitamin D helped explain only 3% of the circulating levels. In conclusion, we found different SNPs associated with breast cancer risk between AA and EA women. Our findings support the hypothesis that the role of vitamin D-related genetic variations may be race-specific, possibly due to differences in linkage disequilibrium structure and in endogenous vitamin D levels between the two groups. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 102nd Annual Meeting of the American Association for Cancer Research; 2011 Apr 2-6; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2011;71(8 Suppl):Abstract nr 5603. doi:10.1158/1538-7445.AM2011-5603
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".