Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1and colorectal cancer risk

Bethke, Lara; Webb, Emily L.; Sellick, Gabrielle S.; Rudd, Matthew; Penegar, Steven; Withey, Laura; Qureshi, Mobshra; Houlston, Richard S.

doi:10.1186/1471-2407-7-123

Cited by 58 publications

(43 citation statements)

References 21 publications

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“…In order to further understand our results, we performed literature searches for the top 10 up and downregulated genes using the Gene Cards and PubMed databases. Of these 20 genes, 16 had a known association with HCC (Reubi et al, 2000;Okabe et al, 2001;Kim et al, 2004;Chen et al, 2006) or other tumors (Hein, 2002;Tomonaga et al, 2003;Agundez, 2004;Lu et al, 2005;Osthus et al, 2005;Hayward and Fry, 2006;Bethke et al, 2007). Therefore, our results are consistent with the literature.…”

Section: Discussionsupporting

confidence: 83%

Aberrant gene expression profiles in hepatocellular carcinoma detected by microdissection

Wei

Li²,

Zhang³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. The aim of this study was to identify genomic aberrations in hepatocellular carcinoma (HCC) by using laser capture microdissection (LCM) combined with microarray analysis. Samples were procured by LCM from HCC and patient-matched normal liver tissue surgically resected from 4 patients. RNA was isolated from the samples and reverse transcribed into cDNA. After 2-cycle linear amplification and 2-color fluorescent labeling, the cRNA was hybridized onto a whole genome microarray. All genes expressed in the normal and HCC samples were counted and analyzed. Differentially expressed genes were identified and the top 10 up and downregulated genes (totally 20 genes) were further evaluated. LCM was able to accurately capture 50-200 cells from HCC and control tissues. The microarray spectrum showed satisfactory detection of HCC-enriched genes. A total of 1361 differentially expressed genes were identified, among which, 607 were upregulated and 754 were downregulated. Among the top 20 up and downregulated genes, 4 genes had not been documented in the literature as being differentially expressed in any tumors. Thus, LCM is an effective approach for identifying aberrantly expressed genes in HCC, and may lead to the discovery of biomarkers for diagnostic and therapeutic applications.

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Section: Discussionsupporting

confidence: 83%

Aberrant gene expression profiles in hepatocellular carcinoma detected by microdissection

Wei

Li²,

Zhang³

et al. 2013

Genet. Mol. Res.

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“…In contrast, for Africans the most frequent genotype is CYP1B1*3*3, 68% in African Americans with the level of 87% in the Yoruba in Ibadan, Nigeria, YRI (HapMap) (20,21). The Tatar ethnic group is significantly different in distribution from genotype frequencies of Caucasians living in England, but is similar to Caucasians in general (20,22). Generally, Russians appear to differ significantly in allele frequencies of CYP1B1 from Caucasians.…”

Section: Discussionmentioning

confidence: 78%

“…It is known that the patterns of the CYP1B1 polymorphic marker (rs1056836, 4326C> G, L432V) genotype frequencies distribution has significant racial differences (20)(21)(22). For Asian populations (Chinese, Japanese, Mexicans) it is very typical to observe the predominance of CYP1B1*1*1 genotype, which varies from 67 to 91% (20).…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms of cytochrome P450 genes in three ethnic groups from Russia

Korytina¹,

Кочетова²,

Akhmadishina³

et al. 2012

Balkan Med J

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Objective: To determine the prevalence of the most common allelic variants of CYP1A1, CYP1A2, CYP1B1, CYP2C9, CYP2E1, CYP2F1, CYP2J2 and CYP2S1 in a representative sample of the three ethnic groups (Russians, Tatars and Bashkirs) from Republic of Bashkortostan (Russia), and compare the results with existing data published for other populations.Material and Methods: CYPs genotypes were determined in 742 DNA samples of healthy unrelated individuals representative of three ethnic groups. The CYPs gene polymorphisms were examined using the PCR-RLFP method.Results: Analysis of the CYP1A1 (rs1048943, rs4646903), CYP1A2 (rs762551), CYP2E1 (rs2031920) allele, genotype and haplotype frequencies revealed significant differences among healthy residents of the Republic of Bashkortostan of different ethnicities. Distribution of allele and genotype frequencies of CYP1A2 (rs35694136), CYP1B1 (rs1056836), CYP2C9 (rs1799853, rs1057910), CYP2F1 (rs11399890), CYP2J2 (rs890293), CYP2S1 (rs34971233, rs338583) genes were similar in Russians, Tatars, and Bashkirs. Analysis of the CYPs genes allele frequency distribution patterns among the ethnic groups from the Republic of Bashkortostan in comparison with the different populations worldwide was conducted. Conclusion:The peculiarities of the allele frequency distribution of CYPs genes in the ethnic groups of the Republic of Bashkortostan should be taken into consideration in association and pharmacogenetic studies. The results of the present investigation will be of great help in elucidating the genetic background of drug response, susceptibility to cancer and complex diseases, as well as in determining the toxic potentials of environmental pollutants in our region.

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“…The present study findings showed a strong LD between the three common SNPs in the CYP1B1 gene in the population. Similarly, Bethke et al (29) observed a strong LD between the five common SNPs in the CYP1B1 gene in UK.…”

Section: Discussionmentioning

confidence: 99%

Association of polymorphisms and haplotypes in the cytochrome P450 1B1 gene with uterine leiomyoma: A case control study

et al. 2014

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Abstract. Uterine leiomyoma (UL) is an estrogen-dependent neoplasm of the uterus and estrogen metabolizing enzymes affect its promotion and progression. The aim of the present study was to evaluate the association between four single-nucleotide polymorphisms (SNPs) of the cytochrome P450 1B1 (CYP1B1) gene and UL risk. Four SNPs of the CYP1B1 gene in 105 UL patients and 112 unrelated healthy controls were genotyped using a direct sequencing method. Haplotype analyses were performed with UNPHASED software and linkage disequilibrium (LD) was assessed by Haploview software. There were no associations between Leu432Val (rs1056836), Asp449Asp (rs1056837) and Asn453Ser (rs1800440) polymorphisms of the CYP1B1 gene and UL. Although the genotypic frequencies of the Arg368His (rs79204362) polymorphism did not differ between the two groups, the frequency of A (His) allele was significantly higher in UL females (P= 0.02). In addition, the frequency of GTAA haplotype was significantly higher in the controls and played a protective role in UL susceptibility. A strong LD between the three common SNPs (rs1056836, rs1056837 and rs1800440) in the CYP1B1 gene was observed in the population. In conclusion, a higher frequency of the CYP1B1 368His (A) allele was observed in UL females. The frequency of the GTAA haplotype was significantly higher in healthy females and this haplotype played a protective role in UL susceptibility.

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Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1and colorectal cancer risk

Cited by 58 publications

References 21 publications

Aberrant gene expression profiles in hepatocellular carcinoma detected by microdissection

Aberrant gene expression profiles in hepatocellular carcinoma detected by microdissection

Polymorphisms of cytochrome P450 genes in three ethnic groups from Russia

Association of polymorphisms and haplotypes in the cytochrome P450 1B1 gene with uterine leiomyoma: A case control study

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