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Table 2 The Association of Coding Variants in Candidate Coactivator and Corepressor-related Genes with Breast Cancer Risk.

From: Screening and association testing of common coding variation in steroid hormone receptor co-activator and co-repressor genes in relation to breast cancer risk: the Multiethnic Cohort

Gene/Variant MAF, rangea All Groups 1,612 cases/1,961 controls ER+ 1090 cases ER- 293 cases Localized 1187 cases Regional/Metastatic 420 cases
   OR(95% CI)b OR(95% CI)b OR(95% CI)b OR(95% CI)b OR(95% CI)b
EP300       
Ser507Gly 0–0.020 1.01(0.55–1.85) 0.73(0.35–1.54)c 2.61(1.15–5.92)c 1.01(0.53–1.95) 1.05(0.39–2.83)
Ile997Val 0.023–0.483 0.92(0.81–1.04) 0.86(0.74–0.99) 1.08(0.86–1.36) 0.94(0.82–1.08) 0.87(0.71–1.06)
Pro1986Leu 0–0.007 0.88(0.21–3.73) 1.12(0.26–4.78) -d 0.67(0.13–3.57) 1.35(0.16–11.56)
Gln2223Pro 0–0.036 1.03(0.70–1.52) 1.02(0.66–1.57) 0.91(0.43–1.93) 0.95(0.62–1.47) 1.31(0.75–2.27)
CCND1       
Pro241Pro 0.244–0.539 1.07(0.97–1.18) 1.12(1.00–1.26) 1.04(0.86–1.26) 1.08(0.96–1.20) 1.06(0.90–1.24)
NCOA1       
Pro1272Ser 0–0.022 1.11(0.69–1.78) 1.04(0.60–1.79) 1.09(0.46–2.59) 1.31(0.80–2.14) 0.62(0.24–1.58)
NCOA2       
Ala407Ser 0–0.005 2.25(0.73–6.96) 2.09(0.55–7.89) 2.85(0.67–12.13) 1.23(0.29–5.24) 4.21(1.19–14.85)
Asn1212Ser 0–0.012 1.08(0.45–2.56) 1.27(0.49–3.34) 1.37(0.37–5.00) 0.91(0.33–2.50) 1.56(0.49–4.99)
Met1282Ile 0.019–0.142 1.06(0.87–1.29) 1.07(0.86–1.33) 0.99(0.67–1.46) 1.10(0.89–1.36) 0.94(0.67–1.31)
NCOA3       
Arg218Cys 0–0.079 0.88(0.68–1.13) 0.90(0.68–1.21) 0.84(0.53–1.33) 0.77(0.58–1.03) 1.13(0.79–1.62)
Met391Val 0–0.016 0.93(0.41–2.13) 1.25(0.49–3.18) 0.33(0.04–2.54) 0.93(0.37–2.35) 0.87(0.24–3.09)
Pro559Ser 0–0.037 1.13(0.68–1.89) 1.48(0.84–2.61) 0.77(0.29–2.03) 1.35(0.78–2.32) 0.65(0.25–1.72)
Gln586His 0.020–0.086 1.00(0.80–1.23) 0.97(0.77–1.24) 1.16(0.80–1.69) 1.07(0.85–1.34) 0.84(0.58–1.20)
Ser662Phe 0–< 0.001 -d -d -d -d -d
FOXA1       
Ala83Thr 0.118–0.580 0.99(0.89–1.10) 0.99(0.88–1.12) 1.07(0.88–1.30) 0.94(0.83–1.06)c 1.14(0.96–1.35)c
Ser448Asn 0.002–0.057 1.09(0.84–1.42) 1.29(0.97–1.71) 0.69(0.39–1.22) 0.99(0.74–1.33)c 1.39(0.96–2.02)c
MPG       
Val242Leu 0–0.002 1.62(0.36–7.29) 2.70(0.59–12.26) -d 0.61(0.06–5.95) 4.32(0.86–21.62)
NCOR1       
Val1996/1997del 0–0.028 0.96(0.52–1.77) 0.93(0.44–1.96) 1.22(0.50–2.98) 0.85(0.41–1.74) 1.24(0.53–2.87)
NCOR2       
Thr35Met 0–0.025 0.18(0.02–1.37) 0.22(0.03–1.72) -d -d 0.71(0.09–5.59)
His52Arg 0–0.026 1.79(1.05–3.05) 1.52(0.81–2.86) 2.09(0.97–4.50) 1.57(0.84–2.96) 2.25(1.15–4.38)
Gly783Glu 0.001–0.125 1.16(0.97–1.39) 1.19(0.98–1.46) 1.03(0.74–1.44) 1.21(0.99–1.46) 1.05(0.79–1.40)
Lys980Thr 0–0.014 1.33(0.67–2.67) 1.16(0.54–2.52) 3.34(1.17–9.53) 1.43(0.69–2.98) 1.16(0.33–4.09)
Ala995Gly 0–0.078 0.95(0.67–1.36) 0.98(0.64–1.50) 1.13(0.66–1.93) 0.99(0.67–1.47) 0.83(0.47–1.46)
Ser1525Thr 0–0.028 0.91(0.51–1.62) 0.75(0.35–1.59) 1.48(0.69–3.20) 0.82(0.42–1.59) 1.16(0.50–2.66)
Ala1706Thr 0.060–0.209 0.99(0.86–1.13) 0.99(0.85–1.15) 0.99(0.77–1.26) 0.96(0.83–1.12) 1.02(0.83–1.26)
Ala2007Thr 0.012–0.049 1.00(0.78–1.29) 0.93(0.69–1.25) 0.97(0.60–1.55) 1.03(0.78–1.36) 0.95(0.63–1.44)
Ala2011Val 0–0.011 1.15(0.48–2.74) 1.65(0.67–4.06) 0.58(0.07–4.60) 0.89(0.30–2.65) 1.83(0.61–5.49)
Thr2216Pro 0–0.022 1.04(0.56–1.93) 1.14(0.57–2.30) 1.02(0.34–3.03) 1.14(0.58–2.22) 0.84(0.28–2.48)
Ser2311Gly 0.001–0.060 0.93(0.64–1.34) 0.90(0.60–1.36) 0.73(0.32–1.67) 1.08(0.73–1.58)c 0.48(0.21–1.09)c
Ala2496Thr 0–0.062 0.96(0.68–1.38) 1.01(0.69–1.49) 0.57(0.23–1.41) 1.12(0.77–1.63)c 0.46(0.20–1.05)c
CALCOCO1       
Arg12His 0–0.005 2.29(1.00–5.26) 2.83(1.19–6.74) 0.76(0.09–6.09) 1.89(0.75–4.75) 3.19(1.12–9.11)
Arg393Lys 0.140–0.365 0.93(0.82–1.05) 0.92(0.80–1.05) 1.01(0.80–1.26) 0.90(0.79–1.03) 0.98(0.80–1.19)
Ala527Thr 0–0.014 0.92(0.41–2.11) 0.82(0.29–2.31) 0.34(0.04–2.62) 1.21(0.51–2.84) 0.29(0.04–2.24)
Gly561Val 0–0.011 1.17(0.57–2.39) 1.34(0.61–2.93) 0.81(0.18–3.60) 1.23(0.56–2.68) 1.10(0.36–3.32)
Thr639Pro 0–0.067 0.95(0.64–1.42) 1.00(0.63–1.60) 0.64(0.30–1.37) 0.84(0.53–1.33) 1.26(0.72–2.20)
CREBBP       
Pro858Ser 0–0.006 0.67(0.16–2.81) 0.76(0.15–3.98) 1.12(0.13–9.77) 0.63(0.12–3.26) 0.87(0.10–7.57)
Thr910Ala 0–0.002 1.11(0.27–4.48) 1.58(0.39–6.49) -d 1.17(0.26–5.34) 1.11(0.12–10.01)
Val992Ile 0–0.036 1.14(0.68–1.92) 0.60(0.28–1.28)c 2.20(1.10–4.39)c 1.19(0.67–2.12) 1.10(0.49–2.45)
Gly2229Ser 0–0.011 1.69(0.70–4.07) 1.66(0.61–4.53) 1.09(0.23–5.15) 1.58(0.60–4.17) 1.92(0.58–6.35)
SMARCA2       
Asp1546Glu 0.129–0.242 1.07(0.94–1.21) 1.12(0.98–1.29) 0.92(0.73–1.16) 1.07(0.93–1.22) 1.07(0.88–1.30)
  1. a Minor allele frequency among controls across populations.
  2. b Adjusted for age and race. OR for gene dosage effects.
  3. c Case-only analysis: ER+ vs ER-, p < 0.01; Localized vs Regional/Metastatic, p < 0.05
  4. d OR can not be calculated because of small numbers of cases or controls.