ABCMdb

PMID: 21063774

Parkman HP, Jacobs MR, Mishra A, Hurdle JA, Sachdeva P, Gaughan JP, Krynetskiy E
Domperidone treatment for gastroparesis: demographic and pharmacogenetic characterization of clinical efficacy and side-effects.
Dig Dis Sci. 2011 Jan;56(1):115-24. Epub 2010 Nov 10., [PubMed]

Sentences

No. Mutations Sentence Comment

89 ABCB1 p.Asn21Asp Between-group comparisons were carried out using analysis of Table 1 SNPs evaluated in this study, corresponding genes, and functional consequences of polymorphisms SNP marker Gene/allele Description Effect of genetic polymorphism rs1045642 ABCB1/3435T[C Transporter Ile1145Ile Decreased function rs2032582 ABCB1/2677T[G/A Transporter Ala893Ser Decreased function rs2229109 ABCB1/1199G[A Transporter Asn400Ser Decreased function rs9282564 ABCB1/61A[G Transporter Asn21Asp Decreased function rs3892097 CYP2D6*4/1846G[A Metabolism SNP in intron Loss of function rs5030655 CYP2D6*6/544del Metabolism Frame shift Loss of function rs35742686 CYP2D6*3/865del Metabolism Frame shift Loss of function rs6275 DRD2/1174C[T Dopamine receptor His313His Phenotype-associated allele rs6277 DRD2/1192T[C Dopamine receptor Pro319Pro Phenotype-associated allele rs727957 KCNE1 G/T Potassium voltage-gated channel, Isk-related member 1 SNP in intron Phenotype-associated allele rs16991652 KCNE2/165C[G Potassium voltage-gated channel, Isk-related member 2 Gln9Glu Phenotype-associated allele rs1805123 KCNH2/2703A[C Potassium voltage-gated channel H (eag-related) member 2 K897T Phenotype-associated allele rs3815459 KCNH2 A/G Potassium voltage-gated channel H (eag-related) member 2 SNP in intron Phenotype-associated allele rs757092 KCNQ1 A/G Potassium voltage-gated channel, KQT-like member 1 SNP in intron Phenotype-associated allele rs6107461 ADRA1D C/T Adrenergic receptor a1D SNP upstream of the gene rs6084673 ADRA1D G/A Adrenergic receptor a1D SNP upstream of the gene rs6052462 ADRA1D A/G Adrenergic receptor a1D SNP upstream of the gene rs4813680 ADRA1D C/A Adrenergic receptor a1D SNP upstream of the gene variance (ANOVA) for continuous data and Fisher`s exact test for categorical data. Login to comment 163 ABCB1 p.Asn21Asp This non-synonymous SNP results in amino acid change Asn21Asp in the intracellular domain of P-gp transporter protein, and was demonstrated to modulate inhibition of calcein-AM transport by cyclosporine A [32]. Login to comment