ABCMdb

PMID: 18313914

Campa D, Vodicka P, Pardini B, Novotny J, Forsti A, Hemminki K, Barale R, Canzian F
Could polymorphisms in ATP-binding cassette C3/multidrug resistance associated protein 3 (ABCC3/MRP3) modify colorectal cancer risk?
Eur J Cancer. 2008 Apr;44(6):854-7. Epub 2008 Mar 7., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC3 p.Arg1297His In this report, we investigated the hypothesis that a functional missense variant, namely the Arg1297His, and a polymorphism in the promoter region, namely the -211 C > Tof the ABCC3 gene, could be associated with colorectal cancer risk. Login to comment 15 ABCC3 p.Arg1297His In this report, we investigated the hypothesis that a functional missense variant, namely the Arg1297His, and a polymorphism in the promoter region, namely the -211 C > T of the ABCC3 gene could be associated with colorectal cancer risk (CRC). Login to comment 62 ABCC3 p.Arg1297His We did not find any significant association between ABCC3 Arg1297His or the -211 C > T polymorphisms and CRC risk, either overall or when subjects were stratified on the basis of gender. Login to comment 63 ABCC3 p.Arg1297His We did not find any significant association between ABCC3 Arg1297His or the -211 C > T polymorphisms and CRC risk, either overall or when subjects were stratified on the basis of gender. Login to comment 68 ABCC3 p.Arg1297His 3.1. Statistical power Our study has 80% power to detect a minimum odds ratio of 2 for the Arg1297His SNP, present with a minor allele frequency (MAF) of 0.04 in our controls, and a minimum odds ratio of 1.4 for the -211 C > T (MAF = 0.46 in the controls of our study), assuming a = 0.05, two-sided test and a codominant model. Login to comment 69 ABCC3 p.Arg1297His 3.1. Statistical power Our study has 80% power to detect a minimum odds ratio of 2 for the Arg1297His SNP, present with a minor allele frequency (MAF) of 0.04 in our controls, and a minimum odds ratio of 1.4 for the -211 C > T (MAF = 0.46 in the controls of our study), assuming a = 0.05, two-sided test and a codominant model. Login to comment 71 ABCC3 p.Arg1297His Non-synonymous mutations in NBDs, which are highly conserved domains amongst ABC transporters, may cause deficient maturation and impaired trafficking.16 The Arg1297His SNP of ABCC3 has been postulated to exert such an effect.17 Lang and coworkers14 showed that the -211 C > T polymorphism of ABCC3 alters mRNA expression affecting the binding of nuclear factors to the promoter. Login to comment 72 ABCC3 p.Arg1297His Non-synonymous mutations in NBDs, which are highly conserved domains amongst ABC transporters, may cause deficient maturation and impaired trafficking.16 The Arg1297His SNP of ABCC3 has been postulated to exert such an effect.17 Lang and coworkers14 showed that the -211 C > T polymorphism of ABCC3 alters mRNA expression affecting the binding of nuclear factors to the promoter. Login to comment 75 ABCC3 p.Arg1297His Considering the low frequency of the Arg1297His SNP and the available sample size in this study, we cannot exclude that this polymorphism may be associated with a small alteration of risk. Login to comment 76 ABCC3 p.Arg1297His Considering the low frequency of the Arg1297His SNP and the available sample size in this study, we cannot exclude that this polymorphism may be associated with a small alteration of risk. Login to comment 77 ABCC3 p.Arg1297His In conclusion, our study does not support a major role of Arg1297His and -211 C > T polymorphisms of ABCC3 gene in risk of CRC. Login to comment 78 ABCC3 p.Arg1297His In conclusion, our study does not support a major role of Arg1297His and -211 C > T polymorphisms of ABCC3 gene in risk of CRC. Login to comment 83 ABCC3 p.Arg1297His Table 1 - Associations of ABCC3 functional polymorphisms with colorectal cancer risk Casesa Controlsa,b OR (95%)c P value P trend rs11568591 (Arg1297His) A/A 590 548 1 0.74 A/G 67 43 1.44 (0.96-2.11) 0.07 G/G 1 1 0.92 (0.51-14.44) 0.64 A/G+G/G 68 44 1.43 (0.97-2.13) 0.07 rs4793665 (-211 C > T) T/T 152 151 1 0.16 C/T 339 280 1.20 (0.91-1.58) 0.18 C/C 132 104 1.26 (0.89-1.77) 0.18 C/T + CC 471 384 1.22(0.94-1.58) 0.13 a Numbers may not add up to 100% of subjects due to genotyping failure. Login to comment 84 ABCC3 p.Arg1297His Table 1 - Associations of ABCC3 functional polymorphisms with colorectal cancer risk Casesa Controlsa,b OR (95%)c P value P trend rs11568591 (Arg1297His) A/A 590 548 1 0.74 A/G 67 43 1.44 (0.96-2.11) 0.07 G/G 1 1 0.92 (0.51-14.44) 0.64 A/G+G/G 68 44 1.43 (0.97-2.13) 0.07 rs4793665 (-211 C > T) T/T 152 151 1 0.16 C/T 339 280 1.20 (0.91-1.58) 0.18 C/C 132 104 1.26 (0.89-1.77) 0.18 C/T + CC 471 384 1.22(0.94-1.58) 0.13 a Numbers may not add up to 100% of subjects due to genotyping failure. Login to comment 144 ABCC3 p.Arg1297His Lee YM, Cui Y, Konig J, et al. Identification and functional characterization of the natural variant MRP3-Arg1297His of human multidrug resistance protein 3 (MRP3/ABCC3). Login to comment 147 ABCC3 p.Arg1297His Lee YM, Cui Y, Konig J, et al. Identification and functional characterization of the natural variant MRP3-Arg1297His of human multidrug resistance protein 3 (MRP3/ABCC3). Login to comment