title: Multidrug resistance protein 3 R652G may reduce susceptibility to idiopathic infant cholestasis.
abstract: OBJECTIVE
  To evaluate the role of genetic factors in the pathogenesis of idiopathic infant cholestasis.
  
  
  METHODS
  We performed a case-control study, including 78 infants with idiopathic infant cholestasis and 113 healthy infants as controls. Genomic DNA was extracted from peripheral venous blood leukocytes using phenol chloroform methodology. Polymerase chain reaction was used to amplify the multidrug resistance protein 3 (MDR3) R652G fragment, and products were sequenced using the ABI 3100 Sequencer.
  
  
  RESULTS
  The R652G single nucleotide polymorphism (SNP) was significantly more frequent in healthy infants (allele frequency 8.0%) than in patients (allele frequency 2.60%) (P < 0.05), odds ratio, 0.29; 95% confidence interval, 0.12-0.84. The conjugated bilirubin in patients with the AG genotype was significantly lower than in those with the AA genotype (44.70 +/- 6.15 micromol/L vs 95.52 +/- 5.93 micromol/L, P < 0.05).
  
  
  CONCLUSIONS
  MDR3 R652G is negatively correlated with idiopathic infant cholestasis. Children with the R652G SNP in Guangxi of China may have reduced susceptibility to infant intrahepatic cholestasis.
authors.affiliation: Department of Pediatrics, First Affiliated Hospital, Guangxi Medical University, Nanning 530021, Guangxi Zhuang Autonomous Region, China.
authors.forename: Xiu-Qi
authors.initials: XQ
authors.lastname: Chen
authors.forename: Lin-Lin
authors.initials: LL
authors.lastname: Wang
authors.forename: Qing-Wen
authors.initials: QW
authors.lastname: Shan
authors.forename: Qing
authors.initials: Q
authors.lastname: Tang
authors.forename: Shu-Jun
authors.initials: SJ
authors.lastname: Lian
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D002779:Cholestasis / Q000235:genetics* / Q000503:physiopathology; D004198:Disease Susceptibility; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D018435:ATP Binding Cassette Transporter, Subfamily B; C095122:multidrug resistance protein 3