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CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda.

Abstract Porphyria cutanea tarda (PCT) is a cutaneous porphyria with sporadic (type 1) and familial (type 2) subtypes, both resulting from decreased hepatic uroporphyrinogen decarboxylase (UROD) activity. Environmental and genetic factors are involved in the development of PCT, and genetic variants in the cytochrome P450 (CYP ) genes, CYP1A1 and CYP1A2, have been implicated. We investigated the association between PCT and variants in CYP1A1, CYP1A2 and CYP2E1, and the glutathione-S-transferase (GST ) genes, GSTM1 and GSTT1. PCT diagnosis was based on urinary or plasma porphyrin profiles. Patients were classified as type 1 or 2 PCT based on UROD mutation analysis. The CYP1A2*1F promoter A allele frequency was significantly higher (P < 0.022) and the A/A genotype frequency marginally higher in PCT patients overall (P < 0.057), with the A/A genotype significantly more common in type 1 PCT (P < 0.043). The presence of the wild-type GSTM1 allele also was associated significantly with PCT (P < 0.019). Neither hemochromatosis (HFE) mutations, tobacco smoking, hepatitis C and HIV infection, ethanol consumption, nor estrogen use were associated with these allelic variants. Age at onset was significantly lower in type 2 PCT patients (P < 0.001), as observed previously. Thus, positive associations between PCT and the CYP1A2*1F promoter A allele and A/A genotype and the wild-type GSTM1 allele indicates that these functional hepatic biotransformation enzymes are risk factors for the development of this disease.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title molecular medicine (cambridge, mass.)
Publication Year Start




PMID- 20957336
OWN - NLM
STAT- MEDLINE
DCOM- 20110801
LR  - 20161019
IS  - 1528-3658 (Electronic)
IS  - 1076-1551 (Linking)
VI  - 17
IP  - 3-4
DP  - 2011 Mar-Apr
TI  - CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria
      cutanea tarda.
PG  - 241-7
LID - 10.2119/molmed.2010.00130 [doi]
AB  - Porphyria cutanea tarda (PCT) is a cutaneous porphyria with sporadic (type 1) and
      familial (type 2) subtypes, both resulting from decreased hepatic
      uroporphyrinogen decarboxylase (UROD) activity. Environmental and genetic factors
      are involved in the development of PCT, and genetic variants in the cytochrome
      P450 (CYP ) genes, CYP1A1 and CYP1A2, have been implicated. We investigated the
      association between PCT and variants in CYP1A1, CYP1A2 and CYP2E1, and the
      glutathione-S-transferase (GST ) genes, GSTM1 and GSTT1. PCT diagnosis was based 
      on urinary or plasma porphyrin profiles. Patients were classified as type 1 or 2 
      PCT based on UROD mutation analysis. The CYP1A2*1F promoter A allele frequency
      was significantly higher (P &lt; 0.022) and the A/A genotype frequency marginally
      higher in PCT patients overall (P &lt; 0.057), with the A/A genotype significantly
      more common in type 1 PCT (P &lt; 0.043). The presence of the wild-type GSTM1 allele
      also was associated significantly with PCT (P &lt; 0.019). Neither hemochromatosis
      (HFE) mutations, tobacco smoking, hepatitis C and HIV infection, ethanol
      consumption, nor estrogen use were associated with these allelic variants. Age at
      onset was significantly lower in type 2 PCT patients (P &lt; 0.001), as observed
      previously. Thus, positive associations between PCT and the CYP1A2*1F promoter A 
      allele and A/A genotype and the wild-type GSTM1 allele indicates that these
      functional hepatic biotransformation enzymes are risk factors for the development
      of this disease.
FAU - Wickliffe, Jeffrey K
AU  - Wickliffe JK
AD  - Department of Preventive Medicine and Community Health, University of Texas
      Medical Branch, Galveston, Texas 77555-1109, United States of America.
FAU - Abdel-Rahman, Sherif Z
AU  - Abdel-Rahman SZ
FAU - Lee, Chul
AU  - Lee C
FAU - Kormos-Hallberg, Csilla
AU  - Kormos-Hallberg C
FAU - Sood, Gagan
AU  - Sood G
FAU - Rondelli, Catherine M
AU  - Rondelli CM
FAU - Grady, James J
AU  - Grady JJ
FAU - Desnick, Robert J
AU  - Desnick RJ
FAU - Anderson, Karl E
AU  - Anderson KE
LA  - eng
GR  - UL1 RR029876-01/RR/NCRR NIH HHS/United States
GR  - 5 R21 DK073093/DK/NIDDK NIH HHS/United States
GR  - R01 FD002604/FD/FDA HHS/United States
GR  - UL1 TR000071/TR/NCATS NIH HHS/United States
GR  - M01 RR000073/RR/NCRR NIH HHS/United States
GR  - R01 DK026824/DK/NIDDK NIH HHS/United States
GR  - R21 DK073093/DK/NIDDK NIH HHS/United States
GR  - U54 DK083909/DK/NIDDK NIH HHS/United States
GR  - 1 U54 DK083909/DK/NIDDK NIH HHS/United States
GR  - 5 R01 DK026824/DK/NIDDK NIH HHS/United States
GR  - M01-RR000073/RR/NCRR NIH HHS/United States
GR  - UL1 RR029876/RR/NCRR NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, U.S. Gov't, P.H.S.
DEP - 20101015
PL  - United States
TA  - Mol Med
JT  - Molecular medicine (Cambridge, Mass.)
JID - 9501023
RN  - 0 (Isoenzymes)
RN  - EC 1.14.14.1 (Cytochrome P-450 CYP1A2)
RN  - EC 2.5.1.18 (Glutathione Transferase)
RN  - EC 2.5.1.18 (glutathione S-transferase M1)
SB  - IM
MH  - Alleles
MH  - Cytochrome P-450 CYP1A2/*genetics
MH  - Gene Frequency
MH  - Genetic Predisposition to Disease/*genetics
MH  - Genotype
MH  - Glutathione Transferase/*genetics
MH  - Humans
MH  - Isoenzymes/genetics
MH  - Linkage Disequilibrium
MH  - Porphyria Cutanea Tarda/*genetics
MH  - Promoter Regions, Genetic/genetics
MH  - Risk Factors
PMC - PMC3060985
EDAT- 2010/10/20 06:00
MHDA- 2011/08/02 06:00
CRDT- 2010/10/20 06:00
PHST- 2010/07/30 00:00 [received]
PHST- 2010/10/14 00:00 [accepted]
PHST- 2010/10/20 06:00 [entrez]
PHST- 2010/10/20 06:00 [pubmed]
PHST- 2011/08/02 06:00 [medline]
AID - molmed.2010.00130 [pii]
AID - 10.2119/molmed.2010.00130 [doi]
PST - ppublish
SO  - Mol Med. 2011 Mar-Apr;17(3-4):241-7. doi: 10.2119/molmed.2010.00130. Epub 2010
      Oct 15.