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Chunk #17 — RESULTS — Identification of new susceptibility loci

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Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
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= 0.01) in lymphoblastoid cell lines from HapMap samples using the Genevar database35 (Supplementary Table 8c). After adjustment for the SNP in the region most strongly associated with expression, SNP rs616488 and PEX14 (P = 0.0071) as well as rs1217396 (a proxy for rs11552449) and PTPN22 (P = 0.0055) and DCLRE1B (P = 0.0067) reached nominal significance at P < 0.01 (Supplementary Table 8a). Although none of these passed Bonferroni correction for multiple testing, the three associations found exceeded the number expected by chance with 46 associations tested. This supports some transcriptional effect from the risk-associated SNPs. PEX14 is involved in peroxisome organization and protein and transmembrane transport; mutations in PEX14 have been associated with Zellweger syndrome36. The functions of ZNF45, ZNF222 and ZNF283 are unknown but may involve transcriptional regulation.