Table 1.

Summary heterozygote, homozygote, and trend ORs for S49C, S707P, F858L, P1054R, and L1420F

SNPMAF* (range)ncasesncontrolsHeterozygote OR (95% CI)Homozygote OR (95% CI)Trend OR (95% CI)
S49C1.2 (0.2-1.7)22,0111.08 (0.95-1.22)1.44 (0.39-5.32)1.08 (0.96-1.22)
25,865
S707P0.9 (0.6-1.6)17,0681.1 (0.96-1.26)5.56 (0.58-53.02)1.12 (0.97-1.28)
22,330
F858L1.5 (0.2-2.4)26,4551.03 (0.93-1.14)1.58 (0.62-4.05)1.04 (0.94-1.15)
29,785
P1054R2.6 (0.6-3.7)24,1911.01 (0.93-1.10)1.04 (0.57-1.89)1.01 (0.94-1.10)
27,048
L1420F1.6 (0.2-2.7)18,6071.05 (0.95-1.17)5.31 (1.35-20.87)1.07 (0.97-1.20)
22,565
F858L P1054R haplotype
858L+1054R1.5 (0.2-2.4)24,1911.04 (0.94-1.16)1.67 (0.59-4.73)1.05 (0.95-1.16)
27,048
F858+1054R1.1 (0.4-1.9)24,1910.98 (0.87-1.10)0.72 (0.21-2.46)0.97 (0.86-1.10)
27,048
858L+P10540.1 (0.04-0.2)24,1911.06 (0.53-2.12)1.93 (0.22-16.67)1.12 (0.61-2.05)
27,048
Any SNP
All cases6.326,1011.05§ (0.99-1.11)1.51 (0.95-2.41)1.06 (1.00-1.12)
29,842
Ptrend = 0.04
Bilateral and familial cases5,7501.12 (1.02-1.23)1.22 (0.55-2.72)1.12 (1.02-1.23)
29,842
Ptrend = 0.02

Abbreviations: MAF, minor allele frequency in controls expressed as a percentage; N/A, not available.

  • *Median and range.

  • The OR for being a compound heterozygote was 1.04 (0.94-1.15). Due to the correlation between F858L and P1054R, however, 1,587 of 1,690 (93.9%) compound heterozygotes were carriers of the 858L 1054R haplotype.

  • To calculate the combined MAF, we assumed that all carriers of the rare allele of F858L also carried the rare allele of P1054R and independence between the other SNPs.

  • §Heterozygote for any of the five SNPs.

  • Rare homozygote for any of the five SNPs.