Yang, Rongxi and Frank, Bernd and Hemminki, Kari and Bartram, Claus R. and Wappenschmidt, Barbara and Sutter, Christian and Kiechle, Marion and Bugert, Peter and Schmutzler, Rita K. and Arnold, Norbert and Weber, Bernhard H. F. and Niederacher, Dieter and Meindl, Alfons and Burwinkel, Barbara (2008) SNPs in ultraconserved elements and familial breast cancer risk. CARCINOGENESIS, 29 (2). pp. 351-355. ISSN 0143-3334,
Full text not available from this repository. (Request a copy)Abstract
Ultraconserved elements (UCEs) are segments of >200 bp length showing absolute sequence identity between orthologous regions of human, rat and mouse genomes. The selection factors acting on these UCEs are still unknown. Recent studies have shown that UCEs function as long-range enhancers of flanking genes or are involved in splicing when overlapping with exons. The depletion of UCEs among copy number variation as well as the significant under-representation of single-nucleotide polymorphisms (SNPs) within UCEs have also revealed their evolutional and functional importance indicating their potential impact on disease, such as cancer. In the present study, we investigated the influence of six SNPs within UCEs on familial breast cancer risk. Two out of six SNPs showed an association with familial breast cancer risk. Whereas rs9572903 showed only a borderline significant association, the frequency of the rare [G] allele of rs2056116 was higher in cases than in controls indicating an increased familial breast cancer risk ([G] versus [A]: odds ratio (OR) = 1.18, 95% confidence interval (CI) 1.06-1.30, P = 0.0020; [GG] versus [AA]: OR = 1.41, 95% CI 1.15-1.74, P = 0.0011). Interestingly, comparing with the older age group, the ORs were increased in woman younger than 50 years of age ([G] versus [A]: OR = 1.27, 95% CI 1.11-1.45, P = 0.0005; [GG] versus [AA]: OR = 1.60, 95% CI 1.22-2.10, P = 0.0007) pointing to an age- or hormone-related effect. This is the first study indicating that SNPs in UCEs might be associated with cancer risk.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CONSERVED NONCODING SEQUENCES; HUMAN GENOME; RAB GTPASES; SIGNAL-TRANSDUCTION; MOLECULAR-CLONING; PROTEIN EVOLUTION; GENE LOSS; ASSOCIATION; EXPRESSION; DROSOPHILA; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 10 Nov 2020 06:55 |
| Last Modified: | 10 Nov 2020 06:55 |
| URI: | https://pred.uni-regensburg.de/id/eprint/31400 |
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