ABCMdb

ABCB1 p.Ser893Thr

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Publications

PMID: 20331623 [PubMed] Shim HJ et al: "BRCA1 and XRCC1 polymorphisms associated with survival in advanced gastric cancer treated with taxane and cisplatin."

No. Sentence Comment

56 Polymorphism primer sequences and method of study Genotype Primer and probe Polymorphism Method Reference GSTM1 F: GAGACAGAAGAGGAGAAGATTC R: GCCCAGCTGCATATGGTTGT Null TaqMan RQ (19) GST T1 F: CTTCCAGGAGGCCCATGAG R: CAGGGCATCAGCTTCTGCTT Null TaqMan RQ (19) GSTP1 F: TGGTGGACATGGTGAATGAC R: TGCAGATGCTCACATAGTTGG A / G, Val105Ile HRM ERCC1 F: TTGTCCAGGTGGATGTGGTA R: CCTCGCTGAGGTTTTAGCTG A / C, Intron 5 HRM XRCC3 F: CCATTCCGCTGTGAATTTG R: GAAGGCACTGCTCAGCTCAC C / T, Thr241Met HRM XRCC4 F: AGGCCTGATTCTTCACTACCTG R: GGCTGCTGTTTCTCAGAGTTTC G / T, Ser307Ser HRM XRCC1 F: ATAATACTGACCTTGCGGGACC R: Biotin-ACCCACGAGTCTAGGTCTCAA S: CTGAGGCCGGGGGCT C / T, Arg194Trp PYRO XRCC1 F: TCTCCCTTGGTCTCCAACCT R: AGTAGTCTGCTGGCTCTGG G / A, Arg399Gln RFLP: HpaII (20) BRCA1 F: CCACAGTCGGGAAACAAGCATAGA R: CTTCTGCATTTCCTGGATTTGAAACC C / T, Pro871Leu RFLP: HpaII (21) MTHFR F:CTTTGAGGCTGACCTGAAGC R:TCACAAAGCGGAAGAATGTG C / T, Ala677Val TaqMan RQ TYMS 6 bp F: CAA ATC TGA GGG AGC TGA GT R: CAG ATA AGT GGC AGT ACA GA` Insertion / deletion (3-UTR) EP (22) TYMS 2R3R F: GTG GCT CCT GCG TTT CCC CC R: CCA AGC TTG GCT CCG AGC CGG CCA CAG GCA TGG CGC GG Two or three 28-bp repeats (5-UTR) EP (23) ABCB1 1236 F: TCTTTGTCAC TTTATCCAGC R: TCTCACCATC CCCTCTGT T / C, Gly412Gly RFLP: EcoO191I (24) ABCB1 2677 F: TGCAGGCTATAGGTTCCAGG R: TTTAGTTTGACTCACCTTCCCG G / T / A, Ser893 Thr / Ala RFLP: Ban1, Rsa1 (24) ABCB1 3435 F: TGCTGGTCCTGAAGTTGATCTGTGAAC R: ACATAGGCAGTGACTCGATGAAGGCA C / T, Ile1145 Ile RFLP: Mbo1 (25) EP, electrophoresis on a 6% polyacrylamide gel; HRM, high resolution melter; PSQ, pyrosequencing; RFLP, restriction fragment length polymorphism; TaqMan RQ, TaqMan allelic discrimination assay. Login to comment

PMID: 23935969 [PubMed] Fountzilas G et al: "Ixabepilone administered weekly or every three weeks in HER2-negative metastatic breast cancer patients; a randomized non-comparative phase II trial."

No. Sentence Comment

86 Missense SNPs previously associated with taxanes toxicity (http://www.pharmgkb.org) were examined on DNA from peripheral blood samples: ABCB1 gene, rs2032582 (c.2677T/G/A, p.S893T/A), rs1128503 (c.1236T/C, p.G412G) and rs1045642 (c. Login to comment

PMID: 24756092 [PubMed] Kim HN et al: "Polymorphisms in DNA repair genes and MDR1 and the risk for non-Hodgkin lymphoma."

No. Sentence Comment

26 Genotype Primers and probe Method Reference DNA repair pathway ERCC1 rs3212961 A/C, IVS5 +33 F: TTGTCCAGGTGGATGTGGTA R: CCTCGCTGAGGTTTTAGCTG HRM ERCC2/XPD rs13181 G/T, Lys751Gln F: TCAAACATCCTGTCCCTACT R: CTGCGATTAAAGGCTGTGGA RFLP: PstI XPC rs2228001 A/C, Lys939Gln F: CCTCAAAACCGAGAAGATGAAG R: CAGGTGTGGGGCCTGTAGT HRM XRCC3 rs861539 C/T, Thr241Met F: CCATTCCGCTGTGAATTTG R: GAAGGCACTGCTCAGCTCAC HRM RAD51 rs1801321 G/T, 172 in 5'-UTR F: GTAGAGAAGTGGAGCGTAAGCC R: Biotin-CTGCGCCTCACACACTCA S: GGGGGCCGTGCGGGT PSQ XRCC4 rs1056503 G/T, Ser307Ser F: AGGCCTGATTCTTCACTACCTG R: GGCTGCTGTTTCTCAGAGTTTC HRM XRCC1 rs1799782 C/T, Arg194Trp F: ATAATACTGACCTTGCGGGACC R: Biotin-ACCCACGAGTCTAGGTCTCAA S: CTGAGGCCGGGGGCT PSQ XRCC1 rs25487 G/A, Arg399Gln F: TCTCCCTTGGTCTCCAACCT R: AGTAGTCTGCTGGCTCTGG RFLP: HpaII [31] OGG1 rs1052133 C/G, Ser326Cys F: CCCTCCTACAGGTGCTGTTC R: TGGGGAATTTCTTTGTCCAG HRM MGMT rs12917 C/T, Leu115Phe F: Biotin-CCCCTGTTCTCACTTTTGCA R: ACTGTGATGTCAGCGATCGTTAAT S: AAACGGGATGGTGAA PSQ BRCA1 rs799917 C/T, Pro871Leu F: CCACAGTCGGGAAACAAGCATAGA R: CTTCTGCATTTCCTGGATTTGAAACC RFLP: HpaII [32] WRN rs1800392 G/T, Leu787Leu F: TGGGAATTTGAAGGTCCAAC R: GCATGGTATGTTCCACAGGA HRM Multidrug resistance ABCB1 rs1128503 1236, T/C, Gly412Gly F: TCTTTGTCAC TTTATCCAGC R: TCTCACCATC CCCTCTGT RFLP: EcoO191I [33] ABCB1 rs2032582 2677, G/T/A, Ser893Thr/Ala F: TGCAGGCTATAGGTTCCAGG R: TTTAGTTTGACTCACCTTCCCG RFLP: Ban1, Rsa1 [34] ABCB1 rs1045682 3435, C/T, Ile1145 Ile F: GAGCCCATCCTGTTTGACTG R: AGAGAGGCTGCCACATGCT RFLP: Mbo1 [34] PSQ: Pyrosequencing; HRM: High-resolution melter; RFLP: Restriction fragment length polymorphism. Login to comment
41 SNP Genotype/ Haplotype Control n (%) NHL DLBCL T-cell lymphoma n (%) OR * (95% CI) p n (%) OR * (95% CI) p n (%) OR * (95% CI) p ABCB1 1236 TT 580 (34) 234 (34) 1 139 (37) 1 44 (32) 1 Gly412Gly TC 825 (49) 367 (53) 1.11 (0.91-1.36) 0.29 193 (51) 1.00 (0.78-1.28) 0.98 74 (53) 1.18 (0.80-1.74) 0.41 rs1128503 CC 295 (17) 87 (13) 0.74 (0.56-0.98) 0.04 44 (12) 0.64 (0.44-0.93) 0.02 21 (15) 0.93 (0.54-1.60) 0.80 TT/CC 1120 (66) 454 (66) 1.01 (0.84-1.22) 0.89 237 (63) 0.90 (0.71-1.14) 0.39 95 (68) 1.11 (0.77-1.62) 0.57 ABCB1 2677 GG 323 (19) 131 (19) 1 64 (17) 1 29 (21) 1 Ser893 Thr/Ala GW ߤ 886 (52) 340 (50) 0.96 (0.75-1.22) 0.74 189 (51) 1.10 (0.81-1.51) 0.54 69 (50) 0.86 (0.55-1.35) 0.51 rs2032582 WW 488 (29) 210 (31) 1.07 (0.82-1.39) 0.61 115 (31) 1.21 (0.86-1.71) 0.27 41 (29) 0.92 (0.56-1.51) 0.74 GW/WW 1374 (81) 550 (81) 1.00 (0.80-1.26) 0.99 304 (82) 1.14 (0.85-1.54) 0.39 110 (79) 0.88 (0.57-1.35) 0.56 ABCB1 3435 CC 708 (42) 234 (34) 1 128 (34) 1 46 (33) 1 Ile1145 Ile CT 800 (47) 377 (54) 1.50 (1.23-1.82) <0.0001 210 (56) 1.52 (1.19-1.94) 0.01 76 (54) 1.51 (1.04-2.22) 0.03 rs1045642 TT 192 (11) 83 (12) 1.43 (1.06-1.93) 0.02 40 (10) 1.25 (0.84-1.86) 0.27 18 (13) 1.54 (0.87-2.72) 0.14 CT/TT 992 (58) 460 (66) 1.48 (1.23-1.79) <0.0001 250 (66) 1.47 (1.16-1.86) 0.02 94 (67) 1.52 (1.05-2.19) 0.03 ABCB1 TTT 1037 (31) 444 (34) 1 242 (34) 1 88 (34) 1 HAP CGC 734 (22) 261 (20) 0.83 (0.69-0.995) 0.04 132 (19) 0.77 (0.61-0.98) 0.03 53 (20) 0.85 (0.60-1.21) 0.38 TGC 713 (21) 270 (21) 0.88 (0.73-1.05) 0.15 152 (22) 0.90 (0.71-1.13) 0.35 54 (21) 0.91 (0.64-1.29) 0.59 CAC 583 (18) 211 (16) 0.84 (0.69-1.02) 0.08 117 (17) 0.87 (0.68-1.11) 0.25 44 (17) 0.89 (0.61-1.29) 0.53 TTC 186 (6) 70 (6) 0.90 (0.67-1.21) 0.48 45 (6) 1.07 (0.75-1.53) 0.72 11 (4) 0.73 (0.38-1.39) 0.34 CGT 62 (2) 41 (3) 1.67 (1.10-2.54) 0.02 16 (2) 1.22 (0.68-2.18) 0.51 12 (4) 2.48 (1.28-4.79) 0.007 * ORs and 95% CIs were estimated using multiple logistic regression and adjusted for sex and age; ߤ W indicated all alleles except G allele. Login to comment

PMID: 25591549 [PubMed] Tecza K et al: "Genetic polymorphisms and gene-dosage effect in ovarian cancer risk and response to paclitaxel/cisplatin chemotherapy."

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101 The polymorphisms, which in univariate analysis were modulating ovarian cancer risk, were included in the Table 2 Case-control analyses of ovarian and breast and ovarian cancer risk Ovarian cancer all patients Ovarian cancer BRCA1- Ovarian cancer BRCA1+ Breast and ovarian cancer Gene polymorphism Genotype Controls n(%) n(%) OR (&#b1;95% CI) p n(%) OR (&#b1;95% CI) p n(%) OR (&#b1;95% CI) p n(%) OR (&#b1;95% CI) p PGR p.Val660Leu rs1042838 GG 239 (69.3) 143 (63.9) 1(ref) 131 (66.5) 1(ref) 12 (44.4) 1(ref) 46 (75.4) 1 (ref) GT 95 (27.5) 74 (33.0) 1.03 (0.90-1.88) 0.160 60 (30.5) 1.15 (0.78-1.70) 0.473 14 (51.9) 2.94 (1.31-6.58) 0.009 14 (23.0) 0.77 (0.40-1.46) 0.416 TT 11 (3.2) 7 (3.1) 1.06 (0.40-2.81) 0.901 6 (3.0) 1.00 (0.36-2.75) 0.993 1 (3.70) 1.81 (0.22-15.20) 0.584 1 (1.6) 0.47 (0.06-3.75) 0.478 GT + TT 106 (30.7) 81 (36.1) 1.20 (0.88-1.63) 0.249 66 (33.5) 1.14 (0.78-1.65) 0.504 15 (55.6) 2.82 (1.28-6.23) 0.010 15 (24.6) 0.74 (0.39-1.38) 0.336 ABCB1 p.Ser893Ala p.Ser893Thr rs2032582 GG 117 (33.7) 65 (29.0) 1(ref) 56 (28.4) 1(ref) 9 (33.4) 1(ref) 16 (26.2) 1 (ref) GT 156 (45.0) 115 (51.4) 1.33 (0.90-1.95) 0.152 104 (52.8) 1.39 (0.93-2.09) 0.108 11 (40.7) 0.92 (0.37-2.28) 0.852 33 (54.1) 1.55 (0.71-2.94) 0.184 TT 60 (17.3) 37 (16.5) 1.11 (0.67-1.85) 0.688 32 (16.3) 1.11 (0.65-1.90) 0.691 5 (18.5) 1.08 (0.35-3.38) 0.890 9 (14.8) 1.10 (0.46-2.63) 0.836 GA 9 (2.6) 2 (0.9) 0.40 (0.08-1.91) 0.250 2 (1.0) 0.46 (0.10-2.24) 0.337 - - - 2 (3.3) 1.63 (0.32-8.31) 0.557 TA 5 (1.4) 5 (2.2) 1.80 (0.50-6.45) 0.367 3 (1.5) 1.25 (0.29-5.49) 0.763 2 (7.4) 5.20 (0.87-31.18) 0.069 1 (1.6) 1.46 (0.16-13.6) 0.736 AA - - - - - - - - - - - - - GG + GT + GA 282 (81.3) 182 (81.3) 1 (ref) 162 (82.2) 1 (ref) 20 (74.1) 1 (ref) 51 (83.6) 1 (ref) TT + TA 65 (18.7) 42 (18.7) 1.00 (0.92-1.09) 1.000 35 (17.8) 0.94 (0.60-1.48) 0.780 7 (25.9) 1.52 (0.61-3.76) 0.364 10 (16.4) 0.85 (0.41-1.77) 0.664 ABCB1 p.Ile1145= rs1045642 CC 83 (24.0) 44 (19.6) 1(ref) 35 (17.8) 1(ref) 9 (33.3) 1(ref) 16 (26.2) 1 (ref) CT 162 (47.0) 122 (54.5) 1.42 (0.92-2.19) 0.113 112 (56.8) 1.64 (1.03-2.60) 0.036 10 (37.1) 0.57 (0.22-1.46) 0.239 26 (42.6) 0.83 (0.42-1.64) 0.596 TT 100 (29.0) 58 (25.9) 1.09 (0.67-1.78) 0.718 50 (25.4) 1.18 (0.70-2.00) 0.522 8 (29.6) 0.74 (0.27-2.00) 0.549 19 (31.2) 0.98 (0.48-2.04) 0.969 CT + TT 262 (76.0) 180 (80.4) 1.02 (0.81-1.30) 0.827 162 (82.2) 1.47 (0.94-2.28) 0.089 18 (66.7) 0.63 (0.27-1.46) 0.285 45 (73.8) 0.89 (0.48-1.66) 0.716 ABCG2 p. Gln141Lys rs2231142 CC 276 (80.2) 191 (86.4) 1 (ref) 167 (85.6) 1 (ref) 24 (92.3) 1 (ref) 56 (87.5) 1 (ref) CA 68 (19.8) 30 (13.6) 0.64 (0.40-1.02) 0.059 28 (14.4) 0.68 (0.42-1.10) 0.116 2 (7.7) 0.34 (0.08-0.47) 0.147 8 (12.5) 0.58 (0.26-1.28) 0.175 ATM p. Asp1853Asn rs1801516 GG 254 (75.8) 153 (68.6) 1 (ref) 134 (68.4) 1 (ref) 19 (70.4) 1 (ref) 45 (70.3) 1 (ref) GA 76 (22.7) 64 (28.7) 1.40 (0.95-2.06) 0.091 57 (29.1) 1.42 (0.95-2.13) 0.083 7 (25.9) 1.23 (0.50-3.05) 0.651 15 (23.4) 1.11 (0.59-2.11) 0.740 AA 5 (1.5) 6 (2.7) 1.99 (0.60-6.66) 0.262 5 (2.5) 1.90 (0.54-6.69) 0.319 1 (3.7) 2.67 (0.39-24.29) 0.380 4 (6.3) 4.52 (1.16-17.56) 0.029 GA + AA 81 (24.2) 70 (31.4) 1.43 (0.98-2.09) 0.061 62 (31.6) 1.45 (0.98-2.15) 0.062 8 (29.6) 1.32 (0.73-2.40) 0.352 19 (29.7) 1.32 (0.56-3.14) 0.528 TP53 p.Arg72Pro rs1042522 GG 167 (49.0) 130 (57.8) 1 (ref) 115 (58.1) 1 (ref) 15 (55.6) 1 (ref) 29 (48.3) 1 (ref) GC 150 (44.0) 79 (35.1) 0.68 (0.47-0.97) 0.031 70 (35.3) 0.68 (0.47-0.98) 0.039 9 (33.3) 0.67 (0.28-1.57) 0.355 29 (48.3) 1.11 (0.64-1.95) 0.707 CC 24 (7.0) 16 (7.1) 0.86 (0.44-1.68) 0.652 13 (6.6) 0.79 (0.39-1.61) 0.511 3 (11.1) 1.39 (0.38-5.16) 0.621 2 (3.3) 0.48 (0.11-2.14) 0.336 GC + CC 174 (51.0) 95 (42.2) 0.80 (0.61-1.05) 0.104 83 (41.9) 0.69 (0.49-0.99) 0.042 12 (44.4) 0.77 (0.35-1.69) 0.511 31 (51.67) 1.03 (0.59-1.78) 0.927 ATP7B p.Ser406Ala rs1801243 TT 103 (30.8) 41 (19.0) 1 (ref) 35 (18.5) 1 (ref) 6 (22.2) 1 (ref) 13 (20.3) 1 (ref) TG 157 (47.0) 113 (52.3) 1.81 (1.17-2.80) 0.008 100 (52.9) 1.87 (1.18-2.97) 0.007 13 (48.2) 1.42 (0.52-3.88) 0.490 32 (50.0) 1.61 (0.81-3.23) 0.174 GG 74 (22.2) 62 (28.7) 2.10 (1.28-3.46) 0.003 54 (28.6) 2.15 (1.27-3.62) 0.004 8 (29.6) 1.86 (0.61-5.61) 0.270 19 (29.7) 2.03 (0.94-4.40) 0.069 TG + GG 231 (69.2) 175 (81.0) 1.90 (1.26-2.88) 0.002 154 (81.5) 1.96 (1.27-3.03) 0.002 21 (77.8) 1.56 (0.61-3.99) 0.352 51 (79.7) 1.75 (0.91-3.36) 0.093 Table 2 Case-control analyses of ovarian and breast and ovarian cancer risk (Continued) ATP7B p.Arg952Lys rs732774 AA 103 (30.7) 86 (38.9) 1 (ref) 76 (39.2) 1 (ref) 10 (37.0) 1 (ref) 25 (39.7) 1 (ref) AG 159 (47.5) 96 (43.4) 0.72 (0.49-1.06) 0.096 82 (42.3) 0.70 (0.47-1.04) 0.078 14 (51.9) 0.91 (0.39-2.11) 0.821 31 (49.2) 0.80 (0.45-1.44) 0.471 GG 73 (21.8) 39 (17.7) 0.64 (0.39-1.04) 0.070 36 (18.5) 0.67 (0.41-1.10) 0.112 3 (11.1) 0.42 (0.11-1.61) 0.203 7 (11.1) 0.40 (0.16-0.97) 0.041 AG + GG 232 (69.3) 135 (61.1) 0.70 (0.49-1.00) 0.047 118 (60.8) 0.69 (0.48-1.00) 0.049 17 (63.0) 0.75 (0.33-1.71) 0.499 38 (60.3) 0.67 (0.39-1.18) 0.165 GST T1/M1 Gene deletions wt/wt 118 (34.6) 82 (36.8) 1(ref) 72 (36.7) 1(ref) 10 (37.0) 1(ref) 20 (31.3) 1(ref) wt/null 49 (14.4) 18 (8.1) 0.53 (0.29-0.98) 0.040 17 (8.7) 0.57 (0.30-1.07) 0.076 1 (3.7) 0.24 (0.03-1.96) 0.180 6 (9.4) 0.72 (0.27-1.92) 0.512 null/wt 138 (40.5) 95 (42.6) 0.99 (0.64-1.54) 0.967 82 (41.8) 0.97 (0.65-0.47) 0.90 13 (48.2) 1.11 (0.47-2.64) 0.810 31 (48.4) 1.32 (0.72-2.45) 0.368 null/null 36 (10.5) 28 (12.5) 1.12 (0.63-1.98) 0.698 25 (12.8) 1.14 (0.63-2.06) 0.667 3 (11.1) 0.98 (0.24-4.04) 0.982 7 (10.9) 1.14 (0.45-2.95) 0.774 GSTP1 p.Ile105Val rs1695 AA 151 (45.2) 104 (46.4) 1 (ref) 93 (47.2) 1 (ref) 11 (40.7) 1 (ref) 32 (52.4) 1 (ref) AG 162 (48.5) 95 (42.4) 0.85 (0.60-1.22) 0.376 84 (42.6) 0.84 (0.58-1.22) 0.361 11 (40.7) 0.93 (0.39-2.22) 0.873 36 (36.1) 0.64 (0.36-1.15) 0.137 GG 21 (6.3) 25 (11.2) 1.73 (0.92-3.26) 0.090 20 (10.2) 1.54 (0.79-3.01) 0.199 5 (18.6) 3.27 (1.03-10.42) 0.044 7 (11.5) 1.57 (0.61-4.03) 0.342 AG + GG 183 (54.8) 120 (53.6) 0.95 (0.68-1.34) 0.776 104 (52.8) 0.92 (0.65-1.32) 0.656 16 (49.3) 1.20 (0.54-2.67) 0.653 43 (47.6) 0.75 (0.43-1.29) 0.296 Statistically significant analyses are in bold. groups of risk reductors (favorable genotypes) or risk enhancers (unfavorable genotypes). 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131 Table 4 Progression-free survival/multivariate analysis/ Factor Variant Cases n (%) HR (&#b1;95% CI) P Histotype Non-serous 57 (44.2) 1 (ref) Serous 72 (55.8) 5.04 (2.05-12.37) 0.0004 FIGO 1 + 2 58 (46.0) 1 (ref) 3 + 4 68 (54.0) 2.19 (1.03-4.64) 0.041 ABCB1 p.Ser893Ala p.Ser893Thr rs2032582 Common allele carriers (GG + GT + GA) 101 (80.2) 1 (ref) Rare genotypes (AT + TT) 25 (19.8) 2.14 (1.07-4.28) 0.031 ATM p.Asp1853Asn rs1801516 Rare allele carriers (GA + AA) 87 (61.0) 1 (ref) Common homozygote (GG) 39 (39.0) 2.32 (1.06-5.10) 0.036 Statistically significant analyses are in bold. relevant compounds. Login to comment

PMID: 25861753 [PubMed] Wang ZC et al: "Genetic polymorphisms of the multidrug resistance 1 gene MDR1 and the risk of hepatocellular carcinoma."

No. Sentence Comment

80 Positions in different coding Table 1 Characteristics of the studies and cohorts included in the meta-analysis Name of studies Country Ethnicity Type of case/control Genotyping method Quality scores Age Male/female ratio Variant site Genotype frequency of case/control HWE Case Control Case Control 1/1 1/2 2/2 Mean SD Mean SD Chen Y [29] China Chinese HCC a /HP PCR-RFLP 6 55.8 14.7 54.5 13.9 91/9 90/10 2677G>T/A 18/19 56/53 26/28 0.492 Minoru F-1 [30] Japan Japanese HCC b /HP PCR-SSCP 8 70 7 - - 43/15 61 2677G>T/A 12/16 29/30 17/15 0.900 Minoru F-2 [30] Japan Japanese HCC b /HP PCR-SSCP 8 70 7 - - 43/15 61 3435C>T 16/14 29/39 13/8 0.023 Ren YQ [31] China Chinese HCC a /HP CRS-PCR 7 58.7 11.3 55.8 15.6 512/177 499/181 4125A>C 299/312 289/303 101/65 0.487 Gao J-1 [32] China Chinese HCC a /HP CRS-PCR 7 57.9 13.7 53.5 14.9 278/75 269/66 335T>C 141/172 150/128 62/35 0.132 Gao J-2 [32] China Chinese HCC a /HP CRS-PCR 7 57.9 13.7 53.5 14.9 278/75 269/66 3073A>C 116/155 158/139 79/41 0.261 Rui J [33] China Chinese HCC a /HP MALDI-TOF-MS 8 46 - 48 - 95/14 90/19 1236C>T 19/22 54/48 36/39 0.310 Yang D-1 [34] China Chinese HCC a /HP CRS-PCR 8 59.2 14.3 58.3 15.3 418/287 429/297 159G>T 312/342 298/308 95/76 0.591 Yang D-2 [34] China Chinese HCC a /HP CRS-PCR 8 59.2 14.3 58.3 15.3 418/287 429/297 1465C>T 294/367 306/292 105/67 0.420 Li XF [35] China Chinese HCC a /HP CRS-PCR 8 58.6 14.5 59.1 13.5 409/236 445/213 3751G>A 283/325 271/286 91/47 0.136 Wan YY [36] China Chinese HCC a /HP CRS-PCR 8 57.7 13.2 58.6 14.2 399/233 435/210 1564A>T 278/311 266/276 88/58 0.772 Total 4407 4436 1788/2055 1906/1902 713/479 1/1, 1/2, and 2/2 represent wild homozygous genotype, wild/mutant heterozygous genotype, and mutant homozygous genotype, respectively HCC hepatocellular carcinoma, HP healthy people, CHC chronic hepatitis C, CHB chronic hepatitis B, B-^ unclear, PCR-RFLP polymerase chain reaction-restriction fragment length polymorphism, PCR-SSCP polymerase chain reaction-single-strand conformation polymorphism, CRS-PCR created restriction site-polymerase chain reaction, MALDI-TOF-MS matrix-assisted laser desorption ionization timeof-flight mass spectrometry a Hepatitis B-related HCC b Hepatitis C-related HCC Table 2 Characteristics of the MDR1 polymorphisms included in the meta-analysis Studies Polymorphism site Exon location Variation type A.A. alteration FI a FI score a Feature key P. location description b P. function description b Chen Y [29] 2677G>T/A Exon 21 Nonsynonymous S893A Neutral -0.98 Topological domain Cytoplasmic ABC transmembrane type 1 S893T Low 1.66 Topological domain Cytoplasmic ABC transmembrane type 1 Minoru F-1 [30] 2677G>T/A Exon 21 Nonsynonymous S893A Neutral -0.98 Topological domain Cytoplasmic ABC transmembrane type 1 S893T Low 1.66 Topological domain Cytoplasmic ABC transmembrane type 1 Minoru F-2 [30] 3435C>T Exon 26 Synonymous - - - Topological domain Cytoplasmic ABC transporter Ren YQ [31] 4125A>C Exon 28 Nonsynonymous E1211A Low 1.805 Topological domain Cytoplasmic ABC transporter Gao J-1 [32] 335T>C 5'-UTR Noncoding - - - - - - Gao J-2 [32] 3073A>C Exon 22 Nonsynonymous L860F Medium 2.715 Transmembrane Helical ABC transmembrane type 1 Rui J [33] 1236C>T Exon 12 Synonymous - - - Topological domain Cytoplasmic ABC transporter Yang D-1 [34] 159G>T Exon 5 Synonymous - - - Transmembrane Helical ABC transmembrane type 1 Yang D-2 [34] 1465C>T Exon 14 Nonsynonymous R489C Medium 1.97 Topological domain Cytoplasmic ABC transporter Li XF [35] 3751G>A Exon 28 Nonsynonymous V1251I Neutral -0.365 Topological domain Cytoplasmic ABC transporter Wan YY [36] 1564A>T Exon 15 Nonsynonymous T522S Low 1.42 Topological domain Cytoplasmic ABC transporter A.A. amino acid, FI functional impact, ABC ATP-binding cassette a The functional impact is evaluated using online MutationAssessor.org b Location of SNP in the protein structure is assessed by Uniprot.org online service sequence subgroup analyses revealed that cytoplasmic polymorphisms correlated with a significantly higher HCC risk (cytoplasmic subgroup: OR=1.28, 95 % CI 1.19-1.37; P<0.00001), whereas transmembrane polymorphisms exhibited site-specific results (Gao J-2, 2013: OR=1.65, 95 % CI 1.32-2.05, P<0.0001; Yang D-1, 2013: OR=1.65, 95 % CI 0.98-1.33, P=0.10). Login to comment

PMID: 26535588 [PubMed] Nishijima T et al: "Drug Transporter Genetic Variants Are Not Associated with TDF-Related Renal Dysfunction in Patients with HIV-1 Infection: A Pharmacogenetic Study."

No. Sentence Comment

97 >10 ml/min/1.73 m2 decrement in eGFR from baseline >25% decrement in eGFR from baseline eGFR <60 ml/min/1.73 m2 Amino acid >10 ml/min/ 1.73 m2 decrement (n = 624) No decrement (n = 79) P value* >25% decrement (n = 119) No decrement (n = 584) P value* <60 ml/ min/1.73 m2 (n = 126) No decrement (n = 577) P value* ABCC2 (MRP2) -24 C!T, rs717620 C/C 382 (61) 51 (65) 76 (64) 357 (61) 83 (66) 350 (61) C/T 215 (35) 27 (34) 0.53 38 (32) 204 (35) 0.83 38 (30) 204 (35) 0.51 T/T 27 (4) 1 (1) 5 (4) 23 (4) 5 (4) 23 (4) 1249 G!A, rs2273697 Val417Ile G/G 483 (78) 61 (77) 93 (78) 451 (77) 100 (79) 444 (77) A/G 132 (21) 16 (20) 0.68 24 (20) 124 (21) 0.97 24 (19) 124 (21) 0.81 A/A 9 (1) 2 (3) 2 (2) 9 (2) 2 (2) 9 (2) ABCB1 (P-glycoprotein) 2677T!A/ G, rs2032582 A: Ser893Thr G: Ser893Ala T/T 112 (18) 13 (16) 19 (16) 106 (18) 21 (17) 104 (18) T/A 77 (12) 13 (16) 22 (18) 68 (11) 18 (14) 72 (12) G/G 122 (20) 13 (16) 0.74 20 (17) 115 (20) 0.40 21 (17) 114 (20) 0.94 G/T 195 (31) 29 (37) 39 (33) 185 (32) 41 (32) 183 (32) G/A 96 (15) 9 (12) 17 (14) 88 (15) 20 (16) 85 (15) A/A 22 (4) 2 (3) 2 (2) 22 (4) 5 (4) 19 (3) *By use of Fisher`s exact test for 2&#d7;3 table (2&#d7;6 table for rs2032582). Login to comment
102 >10 ml/min/1.73 m2 decrement in eGFR from baseline >25% decrement in eGFR from baseline eGFR <60 ml/min/1.73 m2 Amino acid >10 ml/min/ 1.73 m2 decrement (n = 624) No decrement (n = 79) P value* >25% decrement (n = 119) No decrement (n = 584) P value* <60 ml/ min/1.73 m2 (n = 126) No decrement (n = 577) P value* ABCC2 (MRP2) -24 C!T, rs717620 C/C 302 (62) 131 (61) 79 (64) 354 (61) 38 (66) 395 (61) C/T 166 (34) 76 (36) 0.59 39 (31) 203 (35) 0.62 18 (31) 224 (35) 0.91 T/T 22 (4) 6 (3) 6 (5) 22 (4) 2 (3) 26 (4) 1249 G!A, rs2273697 Val417Ile G/G 386 (79) 158 (74) 98 (79) 446 (77) 45 (78) 499 (77) A/G 95 (19) 53 (25) 0.20 24 (19) 124 (21) 0.86 12 (21) 136 (21) 1.00 A/A 9 (2) 2 (1) 2 (2) 9 (2) 1 (1) 10 (2) ABCB1 (P-glycoprotein) 2677T!A/ G, rs2032582 A: Ser893Thr G: Ser893Ala T/T 83 (17) 42 (20) 19 (15) 106 (18) 9 (15) 116 (18) T/A 62 (13) 28 (13) 24 (19) 66 (11) 8 (14) 82 (13) G/G 95 (19) 40 (19) 0.95 21 (17) 114 (20) 0.22 12 (21) 123 (19) 0.76 G/T 157 (32) 67 (31) 41 (33) 183 (32) 15 (26) 209 (32) G/A 75 (15) 30 (14) 17 (14) 88 (15) 12 (21) 93 (14) A/A 18 (4) 6 (3) 2 (2) 22 (4) 2 (3) 22 (4) *By use of Fisher`s exact test for 2&#d7;3 table (2&#d7;6 table for rs2032582). Login to comment