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Chunk #6 — 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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When the results from the GWAS and the iCOGS array were combined, 263 SNPs in 37 new regions had associations that reached P < 5 × 10−8 (Fig. 1, Table 2 and Supplementary Figs. 2 and 3). In four regions (5q11.2, 8q21.11, 10p12.31 and 18q11.2), this set of SNPs included SNPs within 1 Mb of each other that were uncorrelated, such that a second SNP was associated with disease after adjustment for the most significantly associated SNP (Supplementary Fig. 4 and Supplementary Table 5). There was little or no evidence for heterogeneity in the per-allele odds ratios (ORs) among studies for any SNP (per-SNP I2 and P values are given in Supplementary Fig. 2 and Supplementary Table 6). Genotype-specific OR estimates were consistent with a log-additive (allele dose) model for most SNPs, with the exception of three SNPs (rs616488, rs204247 and rs720475) for which the heterozygotes had a similar OR as homozygotes for the high-risk allele and two SNPs (rs11242675 and rs6472903) that were more consistent with a recessive model (Supplementary Table 6). Consistent with the pattern seen for previously