Multidrug resistance protein 3 R652G may reduce susceptibility to idiopathic infant cholestasis.

Abstract

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.

• Authors: Xiu-Qi Chen, Lin-Lin Wang, Qing-Wen Shan, Qing Tang, Shu-Jun Lian
• Journal: World journal of gastroenterology (World J Gastroenterol) Vol. 15 Issue 46 Pg. 5855-8 (Dec 14 2009) ISSN: 2219-2840 [Electronic] United States
• PMID: 19998509 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• ATP Binding Cassette Transporter, Subfamily B
• multidrug resistance protein 3

Topics

• ATP Binding Cassette Transporter, Subfamily B (genetics)
• Asian People (genetics)
• Base Sequence
• China
• Cholestasis (genetics, physiopathology)
• Disease Susceptibility
• Gene Frequency
• Genotype
• Humans
• Infant
• Molecular Sequence Data
• Polymorphism, Single Nucleotide
• Sequence Analysis, DNA