RGD Reference Report - Association of CYP2E1 and NAT2 gene polymorphisms with chronic obstructive pulmonary disease. - Rat Genome Database

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Association of CYP2E1 and NAT2 gene polymorphisms with chronic obstructive pulmonary disease.

Authors: Arif, E  Vibhuti, A  Alam, P  Deepak, D  Singh, B  Athar, M  Pasha, MA 
Citation: Arif E, etal., Clin Chim Acta. 2007 Jul;382(1-2):37-42. Epub 2007 Mar 24.
RGD ID: 4892219
Pubmed: PMID:17442289   (View Abstract at PubMed)
DOI: DOI:10.1016/j.cca.2007.03.013   (Journal Full-text)

BACKGROUND: Detoxification genes are potential candidates in the susceptibility of patients with chronic obstructive pulmonary disease. Polymorphisms in these genes alter the metabolism of xenobiotics such as present in cigarette smoke. METHODS: We conducted a case-control study to investigate total 9 polymorphisms of CYP2E1, CYP2D6 and NAT2 genes by PCR-RFLP. RESULTS: The -1053C/T and -1293G/C promoter polymorphisms of CYP2E1 were found to be in complete linkage disequilibrium (LD) (D'=1.00, r(2)=1.0, p<0.0001), whereas -1293G/C and 7632T/A polymorphisms of the same gene were also in significant LD (D'=0.5183, r(2)=1.0, p=0.01) in patients. The patients over-represented the -1293GC+CC genotypes of -1293G/C polymorphism of CYP2E1 (p=0.03) and NAT2*4/7, NAT2()5/6, NAT2*5/7, NAT2*6/6 and NAT2*6/7 genotypes of NAT2 (p=0.01, p=0.039, p=0.01, p=0.032, p=0.006, respectively), resulting in to higher frequency of -1293C (OR=7.02, 95% CI=1.63-30.15, p=0.002), NAT2*6 (OR=1.90, 95% CI=1.27-2.83, p=0.001) and NAT2*7 (OR=2.91, 95% CI=1.65-5.12, p=0.0001) alleles. The 7632T/A and 9893C/G polymorphisms of CYP2E1 and 1934G/A polymorphism of CYP2D6 did not associate with the disease (p>0.05). The haplotypes -1293G:9893C and -1293G:7632T:9893C were under-represented (p<0.001), whereas haplotypes -1293C:7632T, -1293C:9893C, -1293C:9893G and -1293C:7632T:9893C of the 4 CYP2E1 polymorphisms were over-represented in patients (p<0.05). CONCLUSION: The CYP2E1 and NAT2 variants associated with COPD.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CYP2E1Humanchronic obstructive pulmonary disease  IAGP DNA:polymorphisms: :-1293G>C more ...RGD 
Cyp2e1Ratchronic obstructive pulmonary disease  ISOCYP2E1 (Homo sapiens)DNA:polymorphisms: :-1293G>C more ...RGD 
Cyp2e1Mousechronic obstructive pulmonary disease  ISOCYP2E1 (Homo sapiens)DNA:polymorphisms: :-1293G>C more ...RGD 
NAT2Humanchronic obstructive pulmonary disease susceptibilityIAGP DNA:polymorphisms: :RGD 
Nat2Ratchronic obstructive pulmonary disease susceptibilityISONAT2 (Homo sapiens)DNA:polymorphisms: :RGD 
Nat2Mousechronic obstructive pulmonary disease susceptibilityISONAT2 (Homo sapiens)DNA:polymorphisms: :RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cyp2e1  (cytochrome P450, family 2, subfamily e, polypeptide 1)
Nat2  (N-acetyltransferase 2)

Genes (Mus musculus)
Cyp2e1  (cytochrome P450, family 2, subfamily e, polypeptide 1)
Nat2  (N-acetyltransferase 2 (arylamine N-acetyltransferase))

Genes (Homo sapiens)
CYP2E1  (cytochrome P450 family 2 subfamily E member 1)
NAT2  (N-acetyltransferase 2)


Additional Information