PMID: 17241877

Daly AK, Aithal GP, Leathart JB, Swainsbury RA, Dang TS, Day CP
Genetic susceptibility to diclofenac-induced hepatotoxicity: contribution of UGT2B7, CYP2C8, and ABCC2 genotypes.
Gastroenterology. 2007 Jan;132(1):272-81. Epub 2006 Nov 17., [PubMed]
Sentences
No. Mutations Sentence Comment
33 ABCC2 p.Val417Ile
X
ABCC2 p.Val417Ile 17241877:33:1468
status: NEW
view ABCC2 p.Val417Ile details
ABCC2 p.Cys1515Tyr
X
ABCC2 p.Cys1515Tyr 17241877:33:1787
status: NEW
view ABCC2 p.Cys1515Tyr details
ABCC2 p.Val1188Glu
X
ABCC2 p.Val1188Glu 17241877:33:1622
status: NEW
view ABCC2 p.Val1188Glu details
PCR-RFLP Assay Primers and Conditions Gene and polymorphism Primers Annealing temperature Restriction enzyme PCR product and digestion pattern UGT2B7 C-161T GTGAACAGATCATTTACCTTCATTTGTCTT 1 min at 53°C BbsI C allele 239 bp and 20 bp (rs17551675) CAATTCCCAGAGCTAAAGCAAAAGCTCAGT T allele 259 bp (not digested) UGT2B7 A-79G GTGAACAGATCATTTACCTTCATTTGTCTT 1 min at 53°C HpyCH4III A allele 210 bp and 49 bp (no rs listed) CAATTCCCAGAGCTAAAGCAAAAGCTCAGT G allele 259 bp (not digested) UGT2B7 C801T ACAATGCGGAAAGCTGACG 1 min at 57°C FokI C allele 126 bp (not digested) (H268Y)(rs7439366) CTTAGGCAGGGGTTTGGCA T allele 84 bp and 24 bp CYP2C8 G416A TTTTTATTAGGAATCATTTC 1 min at 48°C BseRI G allele 110 bp, 40 bp and 20 bp (R139K)(rs11572080) AGTCACCCACCCTTGGTTTT A allele150 bp and 20 bp CYP2C8 C792G AAAAATGTTGCTCTTACACG 1 min at 55°C TaqI C allele 90 bp and 35 bp (I264M)(rs1058930) ATTTTACCTGCTCCATTTTG G allele 125 bp (not digested) CYP2C8 A1196G ACTACTTCTCCTCACTTCTG 1 min at 57°C SSCP assay 277 bp product (K399R)(rs10509681) TGCCATGTAAATTCCAACTA ABCC2 G-1023A TTAGCTAGGATACTGCATGGG 1 min at 62°C StyI G allele 306 bp and 204 bp (rs17216114) GTGGCATCAGTCGCTAGAAA A allele 510 bp (not digested) ABCC2 C-24T TGTCCATCCACTGTTTCAATG 1 min at 58°C TaqI C allele 174 bp and 19 bp (rs717620) CTGGACTGCGTCTGGATC T allele 193 bp (not digested) ABCC2 G1249A TCACTTCCTGAGCTTCCTCTTC 1 min at 62°C HpyCH4III G allele 165 bp, 118 bp, 12 bp (V417I)(rs2273697) TGGGATTACAAGCACCATCA A allele 165 bp, 130 bp ABCC2 T3563A CCCCAGTCTTCTCATTGGTC 1 min at 62°C HphI T allele 216 bp, 120 bp, 23 bp, (V1188E)(rs8187694) CACCTGTTGGAGGTGATCCA A allele 216 bp, 141 bp, 23 bp ABCC2 G4544A TCCTGGTTATTCTTATAAATGCCTA 1 min at 60°C RsaI G allele 307 bp, 71 bp, 22 bp (C1515Y)(rs8187710) ACAATCGAGGGGTTTCTCAA A allele 196 bp, 111 bp, 71 bp, 22 bp A mismatch in the primer sequence is indicated by an underlined nucleotide. Login to comment
99 ABCC2 p.Val417Ile
X
ABCC2 p.Val417Ile 17241877:99:553
status: NEW
view ABCC2 p.Val417Ile details
ABCC2 p.Val1188Glu
X
ABCC2 p.Val1188Glu 17241877:99:782
status: NEW
view ABCC2 p.Val1188Glu details
ABCC2 Genotype Frequencies in Cases and Controls W/W W/M M/M OR for possession of variant P ABCC2 G-1023A Cases (n ϭ 24) 17 (0.71) 7 (0.29) 0 Hospital controls (n ϭ 46) 41 (0.89) 3 (0.07) 2 (0.04) 3.38 (0.94-2.14) .09 Community controls (n ϭ100) 71 (0.71) 25 (0.25) 4 (0.04) 1.0 (0.38-2.69) 1.0 ABCC2 C-24T Cases (n ϭ 24) 7 (0.29) 15 (0.62) 2 (0.08) Hospital controls (n ϭ 46) 31 (0.67) 12 (0.26) 3 (0.13) 5.02 (1.71-14.7) .005 Community controls (n ϭ 100) 72 (0.72) 25 (0.25) 3 (0.03) 6.25 (2.38-16.7) .0002 G1249A (V417I) Cases (n ϭ 24) 19 (0.79) 4 (0.17) 1 (0.04) Hospital controls (n ϭ 46) 31 (0.67) 11 (0.24) 4 (0.08) 0.54 (0.17-1.74) .4 Community controls (n ϭ 100) 69 (0.69) 30 (0.30) 1 (0.01) 0.57 (0.2-1.71) .5 T3563A (V1188E) Cases (n ϭ 24) 22 (0.92) 2 (0.08) 0 Hospital controls (n ϭ 46) 41 (0.91) 5 (0.11) 0 0.75 (0.13-4.16) 1.0 Community controls (n ϭ 100) 88 (0.88) 11 (0.11) 1 (0.01) 0.67 (0.14-3.24) 1.0 Table 8. Login to comment