Table 3.
Population-specific frequencies of clinically important variants in ABCG2 (BCRP)
| Variant | Type | Minor allele frequencies (in %) | Clinical association of the minor allele | Effect or statistic | Reference | Sample size | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| EUR | AFR | EAS | SAS | AMR | AJ | ||||||
| rs2231135 | 5′ UTR | 7.0 | 2.0 | 0 | N.A | 4.3 | 4.0 | Increased risk of mucositis in osteosarcoma patients treated with high-dose methotrexate | OR = 2.5 for grade 2–3 mucositis in carriers compared to control | Jabeen et al. (2015) | 57 |
| rs2231142 | Missense (Q141K) | 10.4 | 2.7 | 30.7 | 9.3 | 22.6 | 6.6 | Increased diflomotecan exposure | Plasma levels increased threefold in het carriers compared to controls | Sparreboom et al. (2004) | 22 |
| Gefitinib toxicity in NSCLC patients | OR = 5.7 for dose-limiting diarrhea | Cusatis et al. (2006) | 124 | ||||||||
| Higher rate of major molecular response to imatinib therapy (meta analysis) | OR = 0.65 | Jiang et al. (2017) | 2184 | ||||||||
| Increased PFS of advanced stage ovarian cancer patients treated with platinum and taxane-based chemotherapy | 22.7 months PFS in carriers versus 16.8 months in controls | Tian et al. (2012) | 506 | ||||||||
| Decreased response of allopurinol | p = 3.4 × 10–7 | Wen et al. (2015) | 2027 | ||||||||
| rs2231137 | Missense (V12M) | 4.1 | 6.6 | 32.8 | 14.0 | 23.7 | 10.5 | Severe toxicity of irinotecan in NSCLC patients | OR = 5.1 | Han et al. (2009) | 107 |
| Improved response to imatinib therapy in chronic myeloid leukemia patients | OR = 0.64 for complete cytogenetic response in carriers compared to controls | Kim et al. (2009a) | 229 | ||||||||
| Longer OS in NSCLC patients receiving TKI therapy | 31 months OS in carriers versus 18 months in controls | Chen et al. (2015b) | 70 | ||||||||
| Improved treatment outcomes in acute myeloid leukemia patients receiving cytarabine or anthracyclines | HR = 0.44 for OS | Hampras et al. (2010) | 261 | ||||||||
| Increased toxicity in acute myeloid leukemia patients receiving cytarabine or anthracyclines | OR = 8.4 | Hampras et al. (2010) | 261 | ||||||||
| rs7699188 | Intron | 15.6 | 44.1 | 7.6 | N.A | 13.2 | 23.1 | Toxicity in in metastatic colorectal cancer patients receiving first-line FOLFIRI treatment | OR = 7.3 | De Mattia et al. (2013) | 250 |
| rs3109823 | Intron | 71.8 | 44 | 78.8 | N.A | 80.6 | 83.4 | Improved response and OS of SCLC patients undergoing etoposide and/or platinum-based therapy | OR = 0.3 and 0.6 for response and OS, respectively | Campa et al. (2012) | 171 |
| rs13120400 | Intron | 30.5 | 6.2 | 0 | N.A | 14.7 | 17.4 | Increased blood concentration of deferasirox | OR = 4.1 | Allegra et al. (2016) | Not reported |
| rs2199936 | Intron | 89.4 | 87.6 | 67.1 | N.A | 80.9 | 92.8 | Decreased Increased response to rosuvastatin | Effect of + 5.2 mg/dl | Chasman et al. (2012) | 6989 |
| rs4148155 | Intron | 10.5 | 2.3 | 32.8 | N.A | 18.6 | 6.6 | Increased response to allopurinol | p = 7.89 × 10–9 | Brackman et al. (2019) | 4446 |
PFS progression-free survival, OR odds ratio, NSCLC non-small cell lung cancer, SCLC small cell lung cancer, TKI tyrosine kinase inhibitor, OS overall survival, EUR Europeans, AFR Africans, EAS East Asians, SAS South Asians, AMR Latinos, AJ Ashkenazi Jews, N.A. not available