ABCMdb

PMID: 22955427

Nishijima T, Komatsu H, Higasa K, Takano M, Tsuchiya K, Hayashida T, Oka S, Gatanaga H
Single Nucleotide Polymorphisms in ABCC2 Associate With Tenofovir-Induced Kidney Tubular Dysfunction in Japanese Patients With HIV-1 Infection: A Pharmacogenetic Study.
Clin Infect Dis. 2012 Sep 24., [PubMed]

Sentences

No. Mutations Sentence Comment

60 ABCC4 p.Glu757Lys ABCC4 p.Glu757Lys ABCC2 p.Val417Ile ABCC2 p.Val417Ile ABCC4 p.Gly187Trp ABCC4 p.Gly187Trp ABCC2 p.Ser789Phe ABCC2 p.Ser789Phe ABCC4 p.Lys304Asn ABCC4 p.Lys304Asn The 14 SNPs selected were (1) ABCC2 (encodes MRP2) -24C → T (in the promoter; rs717620); 1249G → A (Val417Ile; rs2273697); 2366C → T (Ser789Phe; rs56220353); 2934G → A (Ser978Ser; rs3740070), (2) ABCC4 (encodes MRP4) 559G →; T (Gly187Trp; rs11568658); 912G ș2; T (Lys304Asn; rs2274407); 2269G !92; A (Glu757Lys; rs3765534); 3348A → G (Lys1116Lys; rs1751034); 4135T → G [in the 3' untranslated region (UTR); (rs3742106)]; 4976T → C (3' UTR; rs1059751), (3) ABCC10 (encodes MRP10) 526G → A (intron; rs9349256); 2759T → C (Ile920Thr; rs2125739), (4) SLC22A6 (encodes OAT1) 180C → T (Asn60Asn; rs11568630), and (5) ABCB1 (encodes P-glycoprotein) 2677T → A/G (A:Ser893Thr, G:Ser893Ala; rs2032582). Login to comment 84 ABCC4 p.Glu757Lys ABCC4 p.Glu757Lys ABCC2 p.Val417Ile ABCC2 p.Val417Ile ABCC4 p.Gly187Trp ABCC4 p.Gly187Trp ABCC2 p.Ser789Phe ABCC2 p.Ser789Phe Genotype Frequencies at ABCC2, ABCC4, ABCC10, SLC22A6, and ABCB1 in Patients With and Without Kidney Tubular Dysfunction Genotype Amino Acid Patients With KTD (n = 19) Patients With Normal Tubular Function (n = 171) P Valuea ABCC2 (MRP2) -24 C → T, rs717620 C/C 18 (94.7) 108 (63.2) C/T 1 (5.3) 52 (30.4) .018 T/T 0 (0) 11 (6.4) 1249 G → A, rs2273697 Val417Ile G/G 11 (57.9) 133 (77.8) A/G 5 (26.3) 34 (19.9) .017 A/A 3 (15.8) 4 (2.3) 2366 C → T, rs56220353 Ser789Phe C/C 19 (100) 167 (97.7) C/T 0 (0) 3 (1.8) 1.000 T/T 0 (0) 1 (0.6) 2934 G → A, rs3740070 Ser978Ser G/G 18 (94.7) 159 (93.0) G/A 1 (5.3) 11 (6.4) 1.000 A/A 0 (0) 1 (0.6) ABCC4 (MRP4) 559 G → T, rs11568658 Gly187Trp G/G 13 (68.4) 133 (77.8) G/T 4 (21.1) 34 (19.9) .126 T/T 2 (10.5) 4 (2.3) 912G → T, rs2274407 G/G 13 (68.4) 102 (59.6) T/G 6 (31.6) 52 (30.4) .461 T/T 0 (0) 17 (9.9) 2269 G → A, rs3765534 Glu757Lys G/G 15 (78.9) 129 (75.4) G/A 2 (10.5) 35 (20.5) .241 A/A 2 (10.5) 7 (4.1) 3348 A → G, rs1751034 Lys1116Lys A/A 13 (68.4) 98 (57.3) A/G 3 (15.8) 58 (33.9) .185 G/G 3 (15.8) 15 (8.8) 4135 T → G, rs3742106 T/T 6 (31.6) 46 (26.9) T/G 7 (36.8) 79 (46.2) .707 G/G 6 (31.6) 46 (26.9) 4976T → C, rs1059751 T/T 6 (31.6) 46 (26.9) T/C 5 (26.3) 86 (50.3) .090 C/C 8 (42.1) 39 (22.8) ABCC10 (MRP7) 526G → A, rs9349256 G/G 4 (21.1) 32 (18.7) A/G 9 (47.4) 65 (38) .569 A/A 6 (31.6) 74 (43.3) Table 2 summarizes the distribution of genotypes at the ABCC2, ABCC4, ABCC10, SLC22A11, and ABCB1 genes in the 2 groups. Login to comment