Table 6.
Single nucleotide polymorphisms in DCK and related phenotypes
| rsID | Location/Effect | Findings | PMID |
|---|---|---|---|
| rs4694362 | IVS6 – 1205C>T | The TT genotype was associated with an increased risk of neutropenia, but is not associated with response compared to the CT and TT genotypes in people with pancreatic cancer when treated with a combination of gemcitabine and radiotherapy, or platinum. | 20665488 |
| rs4694362 | IVS6 – 1205C>T | The T allele is not associated with response compared to the C allele in people with metastatic breast cancer treated with a combination of gemcitabine and paclitaxel. | 24361227 |
| rs4694362 | IVS6 −1205C>T | The T allele is associated with increased disease progression compared to the C allele when part of a haplotype (GGCCGTGT in rs3925058, rs7543016, rs4600090, rs9436883, rs35687416, rs1044457, rs7684954, rs4694362) in people with pancreatic cancer. | 22838950 |
| rs12648166 | 207+9846A>G | Genotype AA is not associated with response compared to genotypes AG and GG in people with pancreatic cancer when treated with a combination of gemcitabine and radiotherapy, or platinum. | 20665488 |
| rs12648166 | 207+9846A>G | The A allele is not associated with response compared to the G allele in people with breast cancer treated with a combination of gemcitabine and paclitaxel. | 24361227 |
| rs66878317 | 70A>G (Ile24Val) | The AG and GG genotypes are associated with increased clearance of gemcitabine compared to the AA genotypes in purified proteins (in vitro). | 23230131 |
| rs3775289 | IVS1 −1110T>C | Genotype CC is not associated with response, or risk of neutropenia in people with NSCLC compared to genotypes CT and TT in people with NSCLC. | 18538455 |
| rs2306744 | −201C>T | The T allele is associated with increased DCK expression both in vitro and in vivo, when part of a haplotype with the G allele of rs80143932 in people with AML. The two SNPs were found to be in strong LD. * | 15564883 |
| rs80143932 | −360C>G | The G allele is associated with increased DCK expression both in vitro and in vivo, when part of a haplotype with the T allele of rs2306744 in people with AML. The two SNPs were found to be in strong LD.* | 15564883 |
All alleles reported in the table are on the positive strand. Variants marked by an * are the complement of what is reported in the study.
Abbreviations: SNP (single nucleotide polymorphism), NSCLC (non-small cell lung cancer), AML (acute myeloid leukemia), DCK (deoxycytidine kinase), LD (linkage disequilibrium).