RGD Reference Report - Correlating of GSTM1, GSTT1, and GSTP1 genetic polymorphisms with the risk and expressions in children with isolated Hirschsprung disease. - Rat Genome Database

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

Authors: Gao, Hong  He, Rong  He, Xiaojing  Zhang, Zhibo  Wang, Dajia  Lv, Liangying  Wang, Weilin  Huang, Ying 
Citation: Gao H, etal., Int J Colorectal Dis. 2011 Jan;26(1):117-25. doi: 10.1007/s00384-010-1013-7. Epub 2010 Jul 27.
RGD ID: 12792222
Pubmed: PMID:20661602   (View Abstract at PubMed)
DOI: DOI:10.1007/s00384-010-1013-7   (Journal Full-text)


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 expressions 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 expressions 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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Hirschsprung's disease susceptibilityIAGP 12792222DNA:missense mutation:cds:p.K173N (human) (rs1065411)RGD 
Hirschsprung's disease susceptibilityIAGP 12792222DNA:missense mutation:cds:p.V155I (human) (rs2266637)RGD 
Hirschsprung's disease susceptibilityISOGSTM1 (Homo sapiens)12792222; 12792222DNA:missense mutation:cds:p.K173N (human) (rs1065411)RGD 
Hirschsprung's disease susceptibilityISOGSTT1 (Homo sapiens)12792222; 12792222DNA:missense mutation:cds:p.V155I (human) (rs2266637)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Gstm1  (glutathione S-transferase mu 1)
Gstt1  (glutathione S-transferase theta 1)

Genes (Mus musculus)
Gstm1  (glutathione S-transferase, mu 1)
Gstt1  (glutathione S-transferase, theta 1)

Genes (Homo sapiens)
GSTM1  (glutathione S-transferase mu 1)
GSTT1  (glutathione S-transferase theta 1)


Additional Information