Table 1.
Gene | Chromosome | Location | Position | SNP | Allele* | MAF (CHB)† | MAF (observed)‡ |
---|---|---|---|---|---|---|---|
TP53 | 17p13.1 | exon 4 | 7579472 | rs1042522 | G/C | 0.489 | 0.413 |
TP53INP1 | 8q22 | 3’UTR (miR-330-5p target site) | 95938422 | rs7760 | G/T | 0.109 | 0.113 |
TP53BP1 | 15q15-q21 | promoter | 43803621 | rs1869258 | T/G | 0.489 | 0.452 |
exon 9 | 43767774 | rs560191 | C/G | 0.444 | 0.424 | ||
exon 17 | 43724646 | rs2602141 | G/T | 0.478 | 0.425 | ||
CDKN2A | 9p21 | exon 3 | 21968199 | rs11515 | C/G | 0.011 | 0.022 |
exon 3 | 21968159 | rs3088440 | T/C | 0.107 | 0.123 | ||
CDKN1A | 6p21.2 | exon 2 | 36651971 | rs1801270 | A/C | 0.449 | 0.488 |
3’UTR | 36653597 | rs1059234 | T/C | 0.442 | 0.496 | ||
CDKN1B | 12p13.1-p12 | promoter | 12869936 | rs36228499 | A/C | 0.408 | 0.414 |
promoter | 12870695 | rs34330 | T/C | 0.470 | 0.461 | ||
exon 1 | 12871099 | rs2066827 | G/T | 0.044 | 0.022 | ||
MDM2 | 12q14.3-q15 | promoter | 69202580 | rs2279744 | T/G | 0.358 | 0.465 |
BAX | 19q13.3-q13.4 | promoter | 49457938 | rs4645878 | A/G | 0.051 | 0.068 |
CCND1 | 11q13 | exon 4 | 69462910 | rs603965 (rs9344) | G/A | 0.438 | 0.422 |
BCL2 | 18q21.3 | P2 promoter (5’flanking) | 60986837 | rs2279115 | A/C | 0.433 | 0.411 |
Abbreviations: MAF, minor allele frequency; CHB, Chinese Han in Beijing.
Minor allele/major allele.
Obtained from the International Hap Map Project database (http://hapmap.ncbi.nlm.nih.gov/).
Estimated from 362 HCC patients receiving surgical resection of the tumor.