| Literature DB >> 20332101 |
Miriam S Udler1, Shahana Ahmed, Catherine S Healey, Kerstin Meyer, Jeffrey Struewing, Melanie Maranian, Erika M Kwon, Jinghui Zhang, Jonathan Tyrer, Eric Karlins, Radka Platte, Bolot Kalmyrzaev, Ed Dicks, Helen Field, Ana-Teresa Maia, Radhika Prathalingam, Andrew Teschendorff, Stewart McArthur, David R Doody, Robert Luben, Carlos Caldas, Leslie Bernstein, Laurence K Kolonel, Brian E Henderson, Anna H Wu, Loic Le Marchand, Giske Ursin, Michael F Press, Annika Lindblom, Sara Margolin, Chen-Yang Shen, Show-Lin Yang, Chia-Ni Hsiung, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Sei-Hyun Ahn, Kathleen E Malone, Christopher A Haiman, Paul D Pharoah, Bruce A J Ponder, Elaine A Ostrander, Douglas F Easton, Alison M Dunning.
Abstract
Recent genome-wide association studies have identified a breast cancer susceptibility locus on 16q12 with an unknown biological basis. We used a set of single nucleotide polymorphism (SNP) markers to generate a fine-scale map and narrowed the region of association to a 133 kb DNA segment containing the largely uncharacterized hypothetical gene LOC643714, a short intergenic region and the 5' end of TOX3. Re-sequencing this segment in European subjects identified 293 common polymorphisms, including a set of 26 highly correlated candidate causal variants. By evaluation of these SNPs in five breast cancer case-control studies involving more than 23 000 subjects from populations of European and Southeast Asian ancestry, all but 14 variants could be excluded at odds of <1:100. Most of the remaining variants lie in the intergenic region, which exhibits evolutionary conservation and open chromatin conformation, consistent with a regulatory function. African-American case-control studies exhibit a different pattern of association suggestive of an additional causative variant.Entities:
Mesh：
Substances：
Year: 2010 PMID： 20332101 PMCID： PMC2876886 DOI： 10.1093/hmg/ddq122
Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150