Table 2. Comparison of the allele frequencies of ERBB-family SNPs between the Irish HER2-Positive BC cohort and the 1000 Genomes UK and Chinese Han cohorts.
Gene | Protein Change | Accession number | HER2-IRE MAF n = 478 | 1kG-GBR MAF n = 182 | 1kG-CHB MAF n = 206 | HER2 IRE vs 1kG GBR | HER2 IRE vs 1kG CHB | ||
---|---|---|---|---|---|---|---|---|---|
P-value | Adjusted P-value | P-value | Adjusted P-value | ||||||
EGFR | N158N | rs2072454 | 0.416 | 0.54 | 0.44 | 0.014 | 0.04 | 0.566 | 0.57 |
T584T | rs2227984 | 0.125 | 0.3 | 0.48 | 9.12xe-06 | 4.56xe-05 | 1.27xe-16 | 1.91xe-15 | |
H656H | rs10258429 | 0.088 | 0.07 | 0.05 | 0.591 | 0.81 | 0.135 | 0.17 | |
Q787Q | rs1050171 | 0.357 | 0.64 | 0.17 | 9.80xe-09 | 7.35xe-08 | 9.86xe-06 | 2.11xe-05 | |
T903T | rs1140475 | 0.125 | 0.11 | 0.05 | 0.760 | 0.88 | 0.007 | 0.01 | |
D994D | rs2293347 | 0.092 | 0.07 | 0.26 | 0.481 | 0.72 | 2.18xe-06 | 5.45xe-06 | |
ERBB2 | I655V | rs1136201 | 0.247 | 0.27 | 0.17 | 0.653 | 0.82 | 0.049 | 0.07 |
P1170A | rs1058808 | 0.275 | 0.65 | 0.52 | 2.34xe-14 | 3.50xe-13 | 2.02xe-07 | 1.01xe-06 | |
ERBB3 | I390I | rs2229046 | 0.09 | 0.04 | 0 | 0.034 | 0.08 | 1.40xe-06 | 4.21xe-06 |
R1116R | rs2271189 | 0.42 | 0.42 | 0.38 | 0.921 | 0.99 | 0.438 | 0.47 |
MAF = Mutant Allele Frequency; IRE = Ireland (n = 239); 1 kG GBR = 1000 Genomes Study participants from Great Britain (n = 91); 1kG CHB = 1000 Genomes Study participants from Beijing, China (n = 103).