Table 3.

Minor allele frequencies, ORs, and 95% CIs for HFE SNPs and breast cancer incidence and associations with plasma ferritin levels in the NHSII among women of European ancestry

rs NumberLocationGenotypeFrequency in casesFrequency in controlsPer-allele OR (95% CI)aP valuebFerritin level, ng/mLcP valued
rs2794719IntronicTT35.1%35.5%1.02 (0.89–1.15)0.8141.730.66
GT47.5%47.4%40.00
GG17.4%17.0%44.89
rs9366637IntronicCC86.7%88.7%1.15 (0.90–1.48)0.2840.090.04
CT12.9%10.6%50.16
TT0.4%0.7%39.50
rs1799945 (H63D)Nonsynonymous codingCC72.3%73.7%1.04 (0.87–1.23)0.7040.520.42
CG25.6%23.6%43.67
GG2.1%2.6%39.05
rs2071303Splice site, intronicTT43.9%44.9%1.05 (0.92–1.20)0.5040.430.24
CT44.1%44.1%40.90
CC12.0%11.0%47.37
rs1800562 (C282Y)Nonsynonymous codingGG89.1%87.1%0.85 (0.66–1.11)0.2341.380.53
GA10.2%12.3%38.76
AA0.7%0.6%108.71
rs707889IntronicGG59.6%58.6%0.94 (0.81–1.10)0.4642.510.17
AG36.8%36.7%39.44
AA3.7%4.7%37.06
rs1045537Nonsynonymous codingGG80.2%79.6%0.95 (0.77–1.18)0.6641.430.87
CG19.1%19.5%39.34
CC0.7%0.9%84.63
rs17596719DownstreamGG78.9%78.3%0.96 (0.79–1.18)0.7140.780.27
AG20.1%20.6%42.42
AA0.9%1.0%67.78
rs6918586DownstreamTT34.6%35.4%1.02 (0.89–1.16)0.8339.050.06
CT50.5%49.7%40.90
CC14.8%14.9%48.00
rs198852SynonymousAA39.1%38.0%1.01 (0.88–1.15)0.9343.340.36
AG46.1%48.5%39.93
GG14.9%13.5%41.01
rs2051542Nonsynonymous codingGG87.8%88.5%1.05 (0.81–1.35)0.7340.820.35
AG11.8%10.9%45.29
AA0.4%0.6%39.40
rs198839UpstreamGG52.1%53.5%1.02 (0.88–1.17)0.8139.990.16
GT41.4%39.2%42.52
TT6.5%7.2%47.04
rs198833DownstreamAA70.9%72.5%1.04 (0.88–1.23)0.6640.800.44
AG26.6%24.5%42.19
GG2.5%3.0%48.05
rs131613′ untranslatedTT27.5%28.8%1.02 (0.90–1.16)0.7238.190.07
CT52.8%51.3%41.77
CC19.7%19.9%44.90
rs707896IntronicGG68.6%68.7%0.99 (0.83–1.17)0.8642.860.10
AG29.6%28.8%37.48
AA1.8%2.4%42.37

NOTE: Numbers may not add up as expected because of rounding. The number of cases/controls for analyses of SNPs and breast cancer incidence varies across SNPs from 748 to 761/1,334 to 1,359. The number of controls for analyses of SNPs and plasma ferritin levels varies across SNPs from 720 to 733. A P value significance threshold of 0.004 controls the experiment-wide type I error rate at the 0.05 level.

  • aObtained from unconditional logistic regression models adjusted for age at blood draw.

  • bP values determined by likelihood ratio tests with 1 degree of freedom.

  • cObtained from generalized linear models among controls adjusted for age at blood draw.

  • dType III Wald P values generated from modeling the number of minor alleles as continuous variables.