ABCMdb

PMID: 24465238

Yi JH, Cho YJ, Kim WJ, Lee MG, Lee JH
Genetic Variations of ABCC2 Gene Associated with Adverse Drug Reactions to Valproic Acid in Korean Epileptic Patients.
Genomics Inform. 2013 Dec;11(4):254-62. doi: 10.5808/GI.2013.11.4.254. Epub 2013 Dec 31., [PubMed]

Sentences

No. Mutations Sentence Comment

35 ABCC2 p.Arg768Trp In addition, the c.2302C &#ff1e; T (exon 18, Arg768Trp) mutation is responsible for Dubin-Johnson syndrome [21, 22]. Login to comment 36 ABCC2 p.Val417Ile The c.2302C &#ff1e; T and c.4348G &#ff1e; A genotypes correlate with significantly lower MRP2 protein expression levels compared to wild-type and V417I [21]. Login to comment 76 ABCC2 p.Val417Ile ABCC2 p.Thr486Ile Based on logistic regression, ADRs were more likely to occur in Variant Allele Control Epilepsy patient p-value CNS ADR-Yes CNS ADR-No g.ߜ1774delG G 146 (66.4) 65 (79.3) 158 (62.7) 0.0057** del 74 (33.6) 17 (20.7) 94 (37.3) g.ߜ1549G > A G 174 (79.1) 59 (72.0) 199 (80.2) 0.1151 A 46 (20.6) 23 (28.0) 49 (19.8) g.ߜ24C > T C 182 (72.7) 54 (65.9) 198 (78.0) 0.0278* rs717620 T 38 (17.3) 28 (34.1) 56 (22.0) g.ߜ23G > A G 215 (97.7) 82 (100.0) 253 (99.6) 0.5693 A 5 (2.3) 0 (0.0) 1 (0.4) c.1249G > A G 199 (90.5) 73 (89.0) 235 (92.5) 0.3194 (p.V417I, rs2273697) A 21 (9.5) 9 (11.0) 19 (7.5) c.1457C > T C 217 (98.6) 82 (100.0) 254 (100.0) - (p.T486I) T 3 (1.4) 0 (0.0) 0 (0.0) c.2620 + 3A > G A 220 (100) 82 (100.0) 254 (100.0) - G 0 0 (0.0) 0 (0.0) c.2934G > A G 209 (95.0) 79 (96.3) 244 (96.1) 0.9095 (p.S978S, rs3740070) A 11 (5.0) 3 (3.7) 10 (3.9) c.3972C > T C 169 (76.8) 53 (64.6) 192 (75.6) 0.0522 (p.I1324I, rs3740066) T 51 (23.2) 29 (35.4) 62 (24.4) c.4147 ߜ 35G > A G 217 (98.6) 80 (97.6) 253 (99.6) 0.0869 A 3 (1.4) 2 (2.4) 1 (0.4) c.4508 + 12G > A G 218 (99.1) 82 (100.0) 254 (100.0) - A 2 (0.9) 0 (0.0) 0 (0.0) Values are presented as number (%). Login to comment 95 ABCC2 p.Thr486Ile ABCC2 p.Val471Ile The frequency of haplotype 3 was higher in ID ߜ1774 Gdel ߜ1549 G/A ߜ24C/T ߜ23G/A V471I T486I 2620+ 3A/G 2934 G/A 3972C/ T 4147&#ff0d; 35G/A 4508+ 12G/A Group Control CNS ADR -Yes CNS ADR -No 1 del G C G V C A G C G G 69 (31.3) 13 (15.8) 82 (32.3)** 2 G G C G V C A G C G G 54 (24.4) 24 (29.0) 65 (25.7) 3 G A T G V C A G T G G 31 (14.2) 18 (22.3)* 29 (11.4) 4 G G C G I C A G C G G 19 (8.7) 8 (9.3) 17 (6.7) 5 G G T G V C A G T G G 4 (1.7) 9 (10.6) 25 (9.8) ľd; ľd; ľd; ľd; ľd; ľd; ľd; ľd; ľd; ľd; ľd; ľd; ľd; ľd; ľd; Total 220 82 254 Values are presented as number (%). Login to comment 104 ABCC2 p.Val417Ile ABCC2 p.Thr486Ile Frequency of MRP2 haplotypes in control and epilepsy patients Variant Control Epilepsy patient p-value CNS ADR-Yes CNS ADR-No g.ߜ1774delG +/+a 50 (45.5) 25 (61.0) 50 (39.7) 0.019* +/ߜ 46 (41.8) 15 (36.6) 58 (46.0) ߜ/ߜ 14 (12.7) 1 (2.4) 18 (14.3) g.ߜ1549G > A +/+ 66 (60.0) 21 (51.2) 82 (66.1) 0.440 +/ߜ 42 (38.2) 17 (41.5) 35 (28.2) ߜ/ߜ 2 (1.8) 3 (7.3) 7 (5.6) g.ߜ24C > T +/+ 74 (67.3) 17 (41.5) 79 (62.2) 0.243 rs717620 +/ߜ 34 (30.9) 20 (48.8) 40 (31.5) ߜ/ߜ 2 (1.8) 4 (9.8) 8 (6.3) g.ߜ23G > A +/+ 105 (95.5) 41 (100.0) 126 (99.2) >0.999 +/ߜ 5 (4.5) 0 (0.0) 1 (0.8) c.1249G > A +/+ 92 (83.6) 32 (78.0) 109 (85.8) >0.999 (p.V417I) +/ߜ 15 (13.6) 9 (22.0) 17 (13.4) rs2273697 ߜ/ߜ 3 (2.7) 0 (0.0) 1 (0.8) c.1457C > T +/+ 107 (97.3) 41 (100.0) 127 (100.0) - (p.T486I) +/ߜ 3 (2.7) 0 (0.0) 0 (0.0) c.2620 + 3A > G +/+ 110 (100.0) 41 (100.0) 127 (100.0) - c.2934G > A +/+ 100 (90.9) 38 (92.7) 117 (92.1) - (p.S978S) +/ߜ 9 (8.2) 3 (7.3) 10 (7.9) rs3740070 ߜ/ߜ 1 (0.9) 0 (0.0) 0 (0.0) c.3972C > T +/+ 61 (55.5) 17 (41.5) 74 (58.3) 0.164 (p.I1324I) +/ߜ 47 (42.7) 19 (46.3) 44 (34.6) rs3740066 ߜ/ߜ 2 (1.8) 5 (12.2) 9 (7.1) c.4147 ߜ 35G > A +/+ 107 (97.3) 39 (95.1) 126 (99.2) 0.141 +/ߜ 3 (2.7) 2 (4.9) 1 (0.8) c.4508 + 12G > A +/+ 108 (98.2) 41 (100.0) 127 (100.0) - +/ߜ 2 (1.8) 0 (0.0) 0 (0.0) Values are presented as number (%). Login to comment