Table 1

Summary of genotype and association results for the three SNPs mapping to the 1q21 locus

Primary analysisUK analysisROI analysisMeta-analysis (IV)
SNPGenotypeControlCaseHWEptrendOR (CI)ControlCaseHWEptrendOR (CI)ControlCaseHWEptrendOR (CI)p ValueQI2OR
rs4085613CC2374 (42.6)465 (47.5)1.18 (1.07 to 1.31)2184 (42.0)375 (46.1)1.16 (1.04 to 1.30)190 (50.9)90 (54.2)1.16 (0.87 to 1.54)
CA2529 (45.4)422 (43.1)0.860.00142390 (46.0)361 (44.4)0.410.0091139 (37.3)61 (36.7)0.020.340.0061.000.001.16
AA665 (11.9)92 (9.4)621 (12.0)77 (9.5)44 (11.8)15 (9.0)
rs4112788CC2370 (42.6)465 (47.4)1.19 (1.07 to 1.32)2179 (42.1)374 (45.9)1.16 (1.04 to 1.30)191 (51.1)91 (54.5)1.16 (0.87 to 1.55)
CT2529 (45.4)427 (43.5)0.840.00112390 (46.1)366 (44.9)0.410.0078139 (37.1)61 (36.5)0.020.330.0051.000.001.16
TT666 (12.0)90 (9.2)611 (11.8)75 (9.2)44 (11.8)15 (9.0)
rs6701216CC4022 (72.2)708 (72.5)0.98 (0.85 to 1.12)3753 (72.2)584 (72.2)1.00 (0.86 to 1.16)269 (72.3)124 (73.8)0.88 (0.61 to 1.27)
CT1436 (25.8)252 (25.8)0.240.761344 (25.9)210 (26.0)0.140.9792 (24.7)42 (25.0)0.420.490.760.520.000.98
TT112 (2.0)17 (1.7)101 (1.9)15 (1.9)11 (3.0)2 (1.2)
  • Analysis of the complete dataset is presented in the primary results. Results for the UK and ROI are presented individually and combined via inverse variance meta-analysis. Genotype counts are presented with frequencies in parentheses. The C alleles of rs4112788 and rs4085613 are in high linkage disequilibrium with the LCE3C_LCE3B-del allele.

  • HWE, Hardy–Weinberg equilibrium (reported in controls only); IV, inverse variance; ROI, Republic of Ireland; SNP, single nucleotide polymorphism; Q, Cochran's Q statistic.