Functional significance of different human CYPlAl genotypes

Crofts, Frances; Taioll, E.; Trachman, Julie; Cosma, Greg; Currie, Diane; Toniolo, Patricia A.; Garte, Seymour

doi:10.1093/carcin/15.12.2961

Cited by 282 publications

(153 citation statements)

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“…Two polymorphisms were studied: 1 in the 7th exon (4889AϾG), and another in the 3= untranslated region [6235(TϾC)]. Although the SNP in the coding region seems to give rise to increased enzymatic activity [86,87], no difference was detected in the distribution of various genotypes and alleles in the controls and the acne patients, suggesting that it does not play a role in the predisposition to acne [33]. Carriers of the rare C allele of the 6235(TϾC) SNP were overrepresented in the patient group, but the difference was not statistically significant in this case either [33].…”

Section: Genetic Polymorphisms Of Cytochrome P450 Family Genes and Acnementioning

confidence: 99%

Studying the genetic predisposing factors in the pathogenesis of acne vulgaris

Szabó

Kemény

2011

Human Immunology

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A B S T R A C TAcne is one of the most common dermatologic diseases in the developed regions of the world, affecting a large percentage of the population. Despite the great improvement in the number and quality of studies of the molecular etiology of this disease in the past 3 decades, the detailed molecular pathogenesis and the cause of the large individual variations in severity of skin symptoms remain unknown. The roles of genetic inheritance and special genetic susceptibility and protective factors have been suggested for over 100 years, but their identification and determination started only in the 1990s. To date, only a small number of genetic polymorphisms affecting the expression and/or function of a handful of genes have been investigated. This review surveys the major findings of the classic and molecular genetic studies that have been conducted in this field, draws conclusions, and indicates how the available data help our current understanding of the pathogenesis of this common skin disease. ᭧

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Section: Genetic Polymorphisms Of Cytochrome P450 Family Genes and Acnementioning

confidence: 99%

Studying the genetic predisposing factors in the pathogenesis of acne vulgaris

Szabó

Kemény

2011

Human Immunology

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“…It should be noted that these findings were based on 109 cases and 423 controls, of which only 9 individuals carried the C/C genotype. While an early functional study suggested that CYP1A1 MspI variant genotypes result in increased ethoxyresorufin-O-deethylase (EROD) activity [21], later studies suggest that differing expression levels are due to polymorphisms in CYP1A1 exon 7 Ile 462 Val [22,23], and may also be influenced by smoking status [24] and gender [25,26].…”

Section: Cyp1a1 Mspimentioning

confidence: 99%

Combinations of cytochrome P-450 genotypes and risk of early-onset lung cancer in Caucasians and African Americans: A population-based study

et al. 2007

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Polymorphisms in CYP1A1 and CYP1B1 genes in humans are associated with reduction of enzymatic activity towards several substrates, including those found in tobacco smoke. To investigate the potential role these polymorphisms have as modulators of early-onset lung cancer risk, a populationbased case-control study involving early-onset lung cancer cases was performed. Biological samples were available for 383 individuals diagnosed prior to 50 years of age identified from the metropolitan Detroit Surveillance, Epidemiology and End Results (SEER) program and 449 age, race and sexmatched controls ascertained through random digit dialing. Genotype frequencies varied significantly by race for CYP1A1 exon 7 Ile 462 Val and CYP1B1 Leu 432 Val genotypes, so all analyses were stratified by race. No association was seen between lung cancer risk and polymorphisms in CYP1A1 MspI or CYP1B1 Leu 432 Val for Caucasians or African Americans, after adjusting for age at diagnosis, sex, pack years of smoking and family history of lung cancer. In Caucasians, those with the Ile/Val genotype at CYP1A1 exon 7 locus were at decreased risk of having lung cancer compared to those with the Ile/Ile genotype, after adjusting for age at diagnosis, sex, pack years of smoking and family history of cancer (OR=0.41 95% CI 0.19-0.90). These results were not replicated among the African American population, nor were they modified by amount of smoking.

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“…(Nakachi et al, 1993). It is likely that the effect of the MspI polymorphism is essentially ascribed to the Ile-Val polymorphism which was associated with gene inducibility and enzymatic activity (Kawajiri et al, 1993;Crofts et al, 1994). This hypothesis was examined in Table 5.…”

Section: Interaction Between Cigarette Smoking and Cyp1a1 Polymorphismentioning

confidence: 99%

Cytochrome P450 1A1 genetic polymorphisms and risk of hepatocellular carcinoma among chronic hepatitis B carriers

et al. 1999

Br J Cancer

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Summary Cigarette smoking has been associated with increased risk of hepatocellular carcinoma (HCC) in some epidemiological studies. Cytochrome P450 1A1 (CYP1A1) is involved in the biotransformation of tobacco-derived polycyclic aromatic hydrocarbons (PAHs) into carcinogenic metabolites. The aim of this study was to determine whether CYP1A1 polymorphisms were related to HCC risk among chronic hepatitis B virus (HBV) carriers. Genotypic variants of CYP1A1 were determined using polymerase chain reaction in 81 incident cases of HCC and 409 controls nested in a cohort study of 4841 male chronic HBV carriers. No overall association between CYP1A1 genotypes and HCC was observed. The presence of the MspI (odds ratio (OR) 3.15, P = 0.0196) or Ile-Val (OR 1.99, P = 0.0855) variant allele of CYP1A1 increased HCC risk among smokers, but posed no increased risk among non-smokers. The smoking-related HCC risk was most pronounced among those who had a susceptible allele of the CYP1A1 and a deficient genotype of glutathione S-transferase M1, which detoxifies PAH electrophilic metabolites produced by CYP1A1. In the absence of the Ile-Val variant allele, the MspI polymorphism was still associated with smoking-related HCC. This study suggests that tobacco-derived PAHs play a role in HCC risk among chronic HBV carriers, and CYP1A1 polymorphism is an important modulator of the hepatocarcinogenic effect of PAHs. The MspI and Ile-Val polymorphisms of CYP1A1 may have different mechanisms for increasing susceptibility to smoking-related HCC.

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Functional significance of different human CYPlAl genotypes

Cited by 282 publications

References 0 publications

Studying the genetic predisposing factors in the pathogenesis of acne vulgaris

Studying the genetic predisposing factors in the pathogenesis of acne vulgaris

Combinations of cytochrome P-450 genotypes and risk of early-onset lung cancer in Caucasians and African Americans: A population-based study

Cytochrome P450 1A1 genetic polymorphisms and risk of hepatocellular carcinoma among chronic hepatitis B carriers

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