RGD Reference Report - Polymorphism in CYP1A1, GSTMI, GSTT1 genes and organochlorine pesticides in the etiology of hypospadias. - Rat Genome Database

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Polymorphism in CYP1A1, GSTMI, GSTT1 genes and organochlorine pesticides in the etiology of hypospadias.

Authors: Shekharyadav, Chandra  Bajpai, Minu  Kumar, Vivek  Ahmed, Rafat Sultana  Gupta, Piyush  Banerjee, Basu Dev 
Citation: Shekharyadav C, etal., Hum Exp Toxicol. 2011 Oct;30(10):1464-74. doi: 10.1177/0960327110392402. Epub 2011 Feb 7.
RGD ID: 11576313
Pubmed: PMID:21300689   (View Abstract at PubMed)
DOI: DOI:10.1177/0960327110392402   (Journal Full-text)

Exposure to endocrine-disrupting chemicals (EDCs) and maternal endogenous estrogen may cause hypospadias, common congenital anomaly. Several organochlorine pesticides (OCPs) have been reported to possess an endocrine-disrupting potential. Cytochrome P4501A1 (CYP1A1) and glutathione S-transferases (GSTM1 and GSTT1) of xenobiotic metabolizing enzyme family are involved in the metabolism of various environmental toxicants and steroidal hormones. Hence, the present study was designed to evaluate the role of CYP1A1, GSTM1, GSTT1 genes polymorphism, OCPs levels and risk of hypospadias. A total of 80 hypospadiac and 120 age-matched control boys were included. OCP levels in blood were determined using Gas Chromatograph equipped with electron capture detector (GC-ECD) and polymorphism in CYP1A1, GSTM1 and GSTT1 genes was evaluated by RFLP and multiplex PCR method. We observed significant high levels of ß-hexachlorohexane (HCH), γ-HCH, and p,p'-dichlorodiphenyl-dichloroethylene (p,p'-DDE) in the cases. CYP1A1 polymorphisms were not significantly different among cases and controls, whereas concomitant deletion of GSTM1 and GSTT1 genotypes was significantly higher in cases as compared to controls. However, after adjusting for low birth weight and maternal occupational exposure, the results did not remain significant but odds of risk was higher (OR = 1.72, p = 0.14) among cases. In conclusion, our study suggests irrespective of genetic predisposition, higher level of some OCPs may be associated with increased risk of hypospadias.

RGD Manual Disease Annotations    Click to see Annotation Detail View

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CYP1A1Humanhypospadias no_associationIAGP  RGD 
Cyp1a1Rathypospadias no_associationISOCYP1A1 (Homo sapiens) RGD 
Cyp1a1Mousehypospadias no_associationISOCYP1A1 (Homo sapiens) RGD 
GSTM1Humanhypospadias  IAGP DNA:deletion and haplotype: : (human)RGD 
GSTT1Humanhypospadias  IAGP DNA:deletion and haplotype: : (human)RGD 
Gstm1Rathypospadias  ISOGSTM1 (Homo sapiens)DNA:deletion and haplotype: : (human)RGD 
Gstm1Mousehypospadias  ISOGSTM1 (Homo sapiens)DNA:deletion and haplotype: : (human)RGD 
Gstt1Rathypospadias  ISOGSTT1 (Homo sapiens)DNA:deletion and haplotype: : (human)RGD 
Gstt1Mousehypospadias  ISOGSTT1 (Homo sapiens)DNA:deletion and haplotype: : (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
GSTM1HumanDisplacement of the urethral meatus  IAGP DNA:deletion and haplotype: :RGD 
GSTT1HumanDisplacement of the urethral meatus  IAGP DNA:deletion and haplotype: :RGD 
Objects Annotated

Genes (Rattus norvegicus)
Cyp1a1  (cytochrome P450, family 1, subfamily a, polypeptide 1)
Gstm1  (glutathione S-transferase mu 1)
Gstt1  (glutathione S-transferase theta 1)

Genes (Mus musculus)
Cyp1a1  (cytochrome P450, family 1, subfamily a, polypeptide 1)
Gstm1  (glutathione S-transferase, mu 1)
Gstt1  (glutathione S-transferase, theta 1)

Genes (Homo sapiens)
CYP1A1  (cytochrome P450 family 1 subfamily A member 1)
GSTM1  (glutathione S-transferase mu 1)
GSTT1  (glutathione S-transferase theta 1)

Additional Information