Brief Article
Copyright ©2009 The WJG Press and Baishideng. All rights reserved.
World J Gastroenterol. Dec 14, 2009; 15(46): 5855-5858
Published online Dec 14, 2009. doi: 10.3748/wjg.15.5855
Multidrug resistance protein 3 R652G may reduce susceptibility to idiopathic infant cholestasis
Xiu-Qi Chen, Lin-Lin Wang, Qing-Wen Shan, Qing Tang, Shu-Jun Lian
Xiu-Qi Chen, Lin-Lin Wang, Qing-Wen Shan, Qing Tang, Shu-Jun Lian, Department of Pediatrics, First Affiliated Hospital, Guangxi Medical University, Nanning 530021, Guangxi Zhuang Autonomous Region, China
Author contributions: Chen XQ performed the experiments and wrote the paper; Wang LL contributed the conception and design of study and revised the paper; Shan QW and Tang Q analyzed the data and were also involved in editing the manuscript; Lian SJ collected the specimens and performed a small number of the experiments.
Supported by Guangxi Scientific Research and Technological Development Projects Funding (Ministry Science & Technology of Guangxi, No. 0816004-6)
Correspondence to: Lin-Lin Wang, Professor, Department of Pediatrics, First Affiliated Hospital, Guangxi Medical University, Nanning 530021, Guangxi Zhuang Autonomous Region, China. wll276@yahoo.com.cn
Telephone: +86-771-5356505 Fax: +86-771-5356781
Received: September 23, 2009
Revised: October 20, 2009
Accepted: October 27, 2009
Published online: December 14, 2009
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 μmol/L vs 95.52 ± 5.93 μmol/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.

Keywords: Multidrug resistance protein 3; Single nucleotide polymorphisms; R652G; Infant; Cholestasis