Table 2.

Distribution of breast cancer cases and controls recruited by the Ontario Women's Diet and Health Study, Ontario, Canada, and age-adjusted odds ratio (AOR) estimates and 95% confidence intervals (CI) for selected polymorphisms in vitamin D–related genes

CasesControls
n = 1,560n = 1,633
Vitamin D–related SNPsn (%)an (%)aAORb (95% CI)
GC c.1307C>A (rs4588)
 CC792 (52)846 (53)1.00
 CA608 (40)642 (40)1.01 (0.87–1.17)
 AA135 (9)120 (7)1.20 (0.92–1.57)
GC c.1296 T>G (rs7041)
 GG486 (31)558 (34)1.00
 GT760 (49)782 (48)1.11 (0.95–1.30)
 TT309 (19)288 (18)1.23 (1.01–1.51)c
Combined GC genotyped
GC 1-1790 (52)845 (53)1.00
GC 2-1605 (40)640 (40)1.01 (0.89–1.17)
GC 2-2134 (9)118 (7)1.22 (0.93–1.59)
CYP24A1c.640+1653C>T (rs2181874)
 GG869 (56)959 (59)1.00
 GA584 (38)575 (35)1.11 (0.96–1.29)
 AA98 (6)93 (6)1.16 (0.86–1.56)
CYP24A1c.552C>T (rs2296241)
 AA449 (29)468 (29)1.00
 GA777 (50)791 (49)1.03 (0.87–1.21)
 GG330 (21)371 (23)0.93 (0.76–1.13)
CYP24A1 c.641–66A>C (rs4809958)e
 TT1,098(71)1,111(69)1.00
 GT403 (26)465 (29)0.88 (0.75–1.03)
 GG47 (3)40 (2)1.20 (0.78–1.85)
CYP24A1 c.733–162A>G (rs6013905)e
 TT1,103(71)1,115(68)1.00
 TC405 (26)472 (29)0.87 (0.74–1.02)
 CC48 (3)42 (3)1.17 (0.76–1.78)
VDR c.1056T>A (rs731236, TaqI)e
TT552 (35)594 (36)1.00
Tt744 (48)763 (47)1.01 (0.82–1.24)
tt260 (17)274 (17)1.04 (0.89–1.22)
VDRc.1024+283G>A (rs1544410, BsmI)e
bb538 (35)592 (36)1.00
Bb746 (48)749 (46)1.09 (0.93–1.27)
BB269 (17)288 (18)1.02 (0.83–1.25)
VDR c.2T>C (rs2228570, FokI)
FF602 (39)606 (37)1.00
Ff747 (48)741 (46)1.01 (0.86–1.17)
ff197 (13)280 (17)0.71 (0.57–0.88)
VDR c.1025–49G>T (rs7975232, ApaI)e
AA438 (28)455 (28)1.00
Aa766 (50)803 (50)1.00 (0.86–1.18)
aa340 (22)364 (22)0.98 (0.80–1.20)
VDR g.1270G>A (rs11568820, Cdx2)
 GG969 (64)983 (62)1.00
 AG456 (30)550 (35)0.83 (0.72–0.97)
 AA84 (6)57 (4)1.49 (1.05–2.11)
VDR c.*308C>A (rs739837, BglI)e
 TT438 (28)449 (28)1.00
 GT760 (48)807 (50)0.99 (0.82–1.21)
 GG357 (23)372 (23)0.97 (0.82–1.15)
VDR c.-83–1453T>C (rs1989969)
 CC583 (38)615 (38)1.00
 CT706 (46)760 (47)0.97 (0.83–1.13)
 TT253 (16)238 (15)1.12 (0.90–1.38)
VDR c.277+3260C>T (rs2107301)
 CC782 (50)865 (53)1.00
 CT638 (41)631 (39)1.11 (0.96–1.28)
 TT130 (8)123 (8)1.18 (0.90–1.54)
VDR c.-83–1633G>C (rs2238135)
 GG914 (59)938 (58)1.00
 GC546 (35)609 (37)0.92 (0.79–1.06)
 CC90 (6)81 (5)1.15 (0.84–1.58)
CUBN c.3829+233C>T (rs1907362)
 GG1,369 (91)1,478 (93)1.00
 Pooled GA/AA141 (9)112 (7)1.36 (1.05–1.78)
LRP2 c.1772+64C>G (rs831003)
 CC916 (59)1,008 (62)1.00
 GC554 (36)533 (33)1.15 (0.99–1.34)
 GG75 (5)76 (5)1.09 (0.78–1.52)
LRP2 c.6470–739G>C (rs2268373)
 GG833 (55)879 (55)1.00
 CG573 (38)604 (38)0.99 (0.85–1.15)
 CC104 (7)104 (7)1.07 (0.80–1.42)
LRP2 c.12462–686T>G (rs3944004)
 TT897 (58)947 (59)1.00
 GT565 (37)566 (35)1.06 (0.91–1.22)
 GG76 (5)94 (6)0.85 (0.62–1.17)

Abbreviation: SNP, single-nucleotide polymorphism.

  • aNumbers may not add to total due to missing values.

  • bAll models were adjusted for age at diagnosis for cases and referent date (November 14, 2002) for controls (all other variables evaluated as potential confounders did not change the OR by >10% when added to the models).

  • cLinear dose–response trend, P < 0.05.

  • dCombined GC genotypes derived as follows: GC1-1 = rs7041-GG, TG, or TT and rs4588-CC; GC2-1 = rs7041-TG or TT and rs4588-CA; GC2-2 = rs704-TT and rs4588-AA.

  • eThe following SNPs are known to be in high linkage disequilibrium: rs731236 and rs1544410 (r2 = 1.0); rs7975232 and rs739837 (r2 = 1.0); rs4809958 and rs6013905 (r2 = 1.0). All other combinations of SNPs within genes are not in high linkage disequilibrium (r2 < 0.6) or unknown if data are not available in HapMap.