ABCMdb

PMID: 17083032

Izzedine H, Hulot JS, Villard E, Goyenvalle C, Dominguez S, Ghosn J, Valantin MA, Lechat P, Deray AG
Association between ABCC2 gene haplotypes and tenofovir-induced proximal tubulopathy.
J Infect Dis. 2006 Dec 1;194(11):1481-91. Epub 2006 Oct 26., [PubMed]

Sentences

No. Mutations Sentence Comment

71 ABCC2 p.Val417Ile ABCC2 p.Val417Ile All group 2 subjects were genotyped for the -24 CrT SNP (rs717620) in exon 1 and for the 1249 GrT SNP (Val417Ile; rs2273697) in exon 10 of the ABCC2 gene by 5 nuclease allelic discrimination assays (ABI PRISM 7700; Applied Biosystems). Login to comment 73 ABCC2 p.Cys1515Tyr ABCC2 p.Val1188Glu The 3563 TrA SNP (Val1188Glu; rs8187694) in exon 25 and the 4544 GrA SNP (Cys1515Tyr; rs8187710) in exon 32 of ABCC2 were genotyped by restriction fragment-length Table 2. Login to comment 77 ABCC2 p.Val417Ile ABCC2 p.Val417Ile ABCC4 p.Gly187Trp ABCC4 p.Gly187Trp ABCC2 p.Arg353His ABCC2 p.Arg353His ABCC2 p.Cys1515Tyr ABCC2 p.Cys1515Tyr ABCC2 p.Val1188Glu ABCC2 p.Val1188Glu (%) P Group 1 (n p 13) Group 2 (n p 17) ABCC2 Exon 1, -24 CrT (rs717620) … Genotype .29 CC 9 (69) 11 (64) CT 3 (23) 5 (29) TT 1 (8) 1 (6) Allele C 21 (80.8) 27 (79.4) T 5 (19.2) 7 (20.6) Exon 9, 1058 GrA (rs7080681) Arg353His Genotype .43 GG 12 (92) 17 (100) GA 1 (8) 0 AA 0 0 Allele G 25 (96.2) 34 (100) A 1 (3.8) 0 Exon 10, 1249 GrA (rs2273697) Val417Ile Genotype .02 GG 3 (23) 11 (64) GA 9 (69) 6 (35) AA 1 (8) 0 Allele G 15 (57.7) 28 (82.4) A 11 (42.3) 6 (17.6) Exon 25, 3563 TrA (rs8187694) Val1188Glu Genotype .01 TT 13 (100) 10 (59) TA 0 6 (35) AA 0 1 (6) Allele T 26 (100) 26 (76.5) A 0 8 (23.5) Exon 28, 3972 CrT (rs3740066) Ile1324Ile Genotype .96 CC 6 (46) 8 (47) CT 4 (31) 7 (41) TT 3 (23) 2 (12) Allele C 16 (61.5) 23 (67.7) T 10 (38.5) 11 (32.3) Exon 32, 4544 GrA (rs8187710) Cys1515Tyr Genotype .01 GG 13 (100) 10 (59) GA 0 6 (35) AA 0 1 (6) Allele G 26 (100) 26 (76.5) A 0 8 (23.5) ABCC4 Exon 5, 559GrT (rs11568658) Gly187Trp Genotype .07 GG 10 (77) 17 (100) GT 3 (23) 0 TT 0 0 Allele G 23 (88.5) 34 (100) T 3 (11.5) 0 (continued) 1485 Table 2. Login to comment 81 ABCC4 p.Lys304Asn (%) P Group 1 (n p 13) Group 2 (n p 17) Exon 6, 669 CrT (rs899494) Ile223Ile Genotype .04 CC 6 (46) 14 (82) CT 7 (54) 3 (18) TT 0 0 Allele C 19 (73.1) 31 (91.2) T 7 (26.9) 3 (8.8) Exon 8, 912 GrT (rs2274407) Lys304Asn Genotype .43 GG 12 (92) 17 (100) GT 1 (8) 0 TT 0 0 Allele G 25 (96.2) 34 (100) T 1 (3.8) 0 Exon 8, 951 GrA (rs2274406) Arg317Arg Genotype .31 GG 4 (31) 6 (33) GA 6 (46) 6 (33) AA 3 (23) 5 (33) Allele G 14 (53.9) 18 (53.0) A 12 (46.1) 16 (47.0) Exon 8, 969 GrA (rs2274405) Ser323Ser Genotype .93 GG 5 (38) 7 (40) GA 5 (38) 6 (33) AA 3 (24) 4 (27) Allele G 15 (57.7) 20 (58.8) A 11 (42.3) 14 (41.2) Exon 11, 1497 CrT (rs1557070) Tyr499Tyr Genotype .43 CC 12 (92) 17 (100) CT 1 (8) 0 TT 0 0 Allele C 25 (96.2) 34 (100) T 1 (3.8) 0 Exon 26, 3310 TrC (rs11568655) Leu1104Leu Genotype .43 TT 12 (92) 17 (100) TC 1 (8) 0 CC 0 0 Allele T 25 (96.2) 34 (100) C 1 (3.8) 0 Exon 26, 3348 ArG (rs1751034) Lys1116Lys Genotype .44 AA 8 (61) 8 (47) AG 3 (23) 7 (41) GG 2 (15) 2 (12) Allele A 19 (73.1) 23 (67.7) G 7 (26.9) 11 (32.3) (continued) Table 2. Login to comment 85 ABCC1 p.Ala893Ser (%) P Group 1 (n p 13) Group 2 (n p 17) Exon 28, 3609 GrA (rs11568695) Ala1203Ala Genotype .43 GG 12 (92) 17 (100) GA 1 (8) 0 AA 0 0 Allele G 25 (96.2) 34 (100) A 1 (3.8) 0 ABCB1 Exon 12, 1236CrT (rs1128503) Gly412Gly Genotype .66 CC 7 (54) 6 (35.2) CT 5 (38) 9 (52.9) TT 1 (8) 2 (11.9) Allele C 19 (73.0) 21 (62.8) T 7 (27.0) 13 (38.2) Exon 21, 2677GrT/A (rs2032582) Ala893Ser/Thr Genotype .82 GG 5 (38) 8 (47) GT 5 (38) 7 (41) TT 1 (8) 1 (6) GA 1 (8) 0 AA 0 1 (6) TA 1 (8) 0 Allele G 16 (61.5) 23 (67.8) T 8 (30.8) 9 (26.4) A 2 (7.7) 2 (5.8) Exon 26, 3435CrT (rs1045642) Ile1145Ile Genotype .25 CC 7 (54) 5 (29.4) CT 3 (23) 9 (52.9) TT 3 (23) 3 (17.7) Allele C 17 (65.4) 19 (55.9) T 9 (34.6) 15 (44.1) NOTE. Login to comment 166 ABCC2 p.Cys1515Tyr ABCC2 p.Val1188Glu In a study by Wojnowski et al. [39], the 2 missense polymorphisms 3563 TrA (Val1188Glu) and 4544 GrA (Cys1515Tyr) in ABCC2 were associated with anthracycline- induced cardiotoxicity; these SNPs were found at a similar allelic frequency in our study patients (23.5% vs. 15% [39]) but were observed only in group 2 and not in group 1. Login to comment