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International Journal of Colorectal Disease
Published in: International Journal of Colorectal Disease 1/2011

01-01-2011 | Original Article

Correlating of GSTM1, GSTT1, and GSTP1 genetic polymorphisms with the risk and expressions in children with isolated Hirschsprung disease

Authors: Hong Gao, Rong He, Xiaojing He, Zhibo Zhang, Dajia Wang, Liangying Lv, Weilin Wang, Ying Huang

Published in: International Journal of Colorectal Disease | Issue 1/2011

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Abstract

Purpose

The present study aimed to examine an association between the glutathione S-transferases (GSTs) polymorphisms (GSTM1, GSTT1, and GSTP1) genetic polymorphisms with the risk and expression in children with isolated Hirschsprung disease (HD).

Methods

GSTM1, GSTT1, and GSTP1 genetic polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism analysis in 80 HD and 180 normal children (controls). The genic expressions were detected by semi-quantitative reverse transcription polymerase chain reaction (RT-PCR) and real-time quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR). The protein expressions were detected by Western blot.

Results

The GSTM1 null genotype especially is associated with a greater risk of HD (X 2  = 1.129, P = 0.288, OR = 0.851, 95% CI = 0.632–1.146). The GSTT1 null genotype especially is associated with a greater risk of HD (X 2  = 6.165, P = 0.013, OR = 1.472, 95% CI = 1.084–1.999). The GSTP1 null genotype especially is associated with a greater risk of HD (X 2  = 4.748, P = 0.029, OR = 0.701, 95% CI = 0.509–0.964). GSTP1 and GSTP1 expressiones were higher than GSTM1 in HD patients. Positive expressive rate of the GSTT1 and GSTP1 were 40.56% and 56.67% in HD. The mRNA and protein expressiones level of GSTT1 and GSTP1 genes were significantly higher in HD than controls (P < 0.05). Positive expressive rate of the GSTM1 was 10.56% in HD. The GSTM1 was low expressed between in HD and controls (P > 0.05).

Conclusions

The GSTP1 genetic polymorphisms correlate to HD. We postulate that inherited gene deletion of GSTT1 and GSTP1 may produce increased genotoxic susceptibility for HD respectively, following exposure to xenobiotics that are substrates for these enzymes.
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Metadata
Title
Correlating of GSTM1, GSTT1, and GSTP1 genetic polymorphisms with the risk and expressions in children with isolated Hirschsprung disease
Authors
Hong Gao
Rong He
Xiaojing He
Zhibo Zhang
Dajia Wang
Liangying Lv
Weilin Wang
Ying Huang
Publication date
01-01-2011
Publisher
Springer-Verlag
Published in
International Journal of Colorectal Disease / Issue 1/2011
Print ISSN: 0179-1958
Electronic ISSN: 1432-1262
DOI
https://doi.org/10.1007/s00384-010-1013-7

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