Table 1.
Summary of genotype and association results for the three SNPs mapping to the 1q21 locus
| Primary analysis | UK analysis | ROI analysis | Meta-analysis (IV) | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNP | Genotype | Control | Case | HWE | ptrend | OR (CI) | Control | Case | HWE | ptrend | OR (CI) | Control | Case | HWE | ptrend | OR (CI) | p Value | Q | I2 | OR |
| rs4085613 | CC | 2374 (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) | ||||||||||
| CA | 2529 (45.4) | 422 (43.1) | 0.86 | 0.0014 | 2390 (46.0) | 361 (44.4) | 0.41 | 0.0091 | 139 (37.3) | 61 (36.7) | 0.02 | 0.34 | 0.006 | 1.00 | 0.00 | 1.16 | ||||
| AA | 665 (11.9) | 92 (9.4) | 621 (12.0) | 77 (9.5) | 44 (11.8) | 15 (9.0) | ||||||||||||||
| rs4112788 | CC | 2370 (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) | ||||||||||
| CT | 2529 (45.4) | 427 (43.5) | 0.84 | 0.0011 | 2390 (46.1) | 366 (44.9) | 0.41 | 0.0078 | 139 (37.1) | 61 (36.5) | 0.02 | 0.33 | 0.005 | 1.00 | 0.00 | 1.16 | ||||
| TT | 666 (12.0) | 90 (9.2) | 611 (11.8) | 75 (9.2) | 44 (11.8) | 15 (9.0) | ||||||||||||||
| rs6701216 | CC | 4022 (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) | ||||||||||
| CT | 1436 (25.8) | 252 (25.8) | 0.24 | 0.76 | 1344 (25.9) | 210 (26.0) | 0.14 | 0.97 | 92 (24.7) | 42 (25.0) | 0.42 | 0.49 | 0.76 | 0.52 | 0.00 | 0.98 | ||||
| TT | 112 (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.