Document Detail

Multidrug resistance protein 3 R652G may reduce susceptibility to idiopathic infant cholestasis.
MedLine Citation:
PMID:  19998509     Owner:  NLM     Status:  MEDLINE    
AIM: 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).
CONCLUSION: 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.
Xiu-Qi Chen; Lin-Lin Wang; Qing-Wen Shan; Qing Tang; Shu-Jun Lian
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  World journal of gastroenterology : WJG     Volume:  15     ISSN:  2219-2840     ISO Abbreviation:  World J. Gastroenterol.     Publication Date:  2009 Dec 
Date Detail:
Created Date:  2009-12-09     Completed Date:  2010-02-05     Revised Date:  2014-05-20    
Medline Journal Info:
Nlm Unique ID:  100883448     Medline TA:  World J Gastroenterol     Country:  China    
Other Details:
Languages:  eng     Pagination:  5855-8     Citation Subset:  IM    
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MeSH Terms
Asian Continental Ancestry Group / genetics
Base Sequence
Cholestasis / genetics*,  physiopathology
Disease Susceptibility*
Gene Frequency
Molecular Sequence Data
P-Glycoproteins / genetics*
Polymorphism, Single Nucleotide*
Sequence Analysis, DNA
Reg. No./Substance:
0/P-Glycoproteins; 0/multidrug resistance protein 3

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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