Genetic polymorphisms of CYP1A1 in a Korean population

Park, Duk Woong; Jin, Bum Ja; Jang, Dongdeuk; Yang, Ki-Hwa; Park, Jung-Duck; Lee, Yong-Soon; Ryu, Doug-Young

doi:10.1007/s00204-004-0552-5

Cited by 7 publications

(4 citation statements)

References 17 publications

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“…In an earlier study, 13 nucleotide polymorphisms (at 12 positions: 3229, 3219, 134, 1636, 2414, 2453, 2455, 2461, 2500, 2546, 3205, and 3801) and one frameshift mutation due to a single-base insertion between 2346 and 2347 in CYP1A1 have been reported in the Korean population (Duk et al , 2004). Among these, nine polymorphisms were associated with amino acid substitutions (Spurr et al , 1987; Hayashi et al , 1991; Crofts et al ; 1993; Cascorbi et al , 1996; Smart and Daly, 2000; Chevalier et al , 2001; Saito et al , 2002).…”

Section: Discussionmentioning

confidence: 96%

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Mutational analysis of xenobiotic metabolizing genes (CYP1A1 and GSTP1) in sporadic head and neck cancer patients

Masood

Kayani

2011

Genet. Mol. Biol.

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CYP1A1 is the phase I enzyme that detoxifies the carcinogen or converts it into a more electrophilic form, metabolized by phase II enzymes like GSTP1. These detoxifying genes have been extensively studied in association with head and neck cancer (HNC) in different ethnic groups worldwide. The current study was aimed at screening genetic polymorphisms of genes CYP1A1 and GSTP1 in 388 Pakistani HNC patients and 150 cancer-free healthy controls, using PCR-SSCP. No already known variants of either gene were found, however a novel frameshift mutation due to insertion of T (g.2842_2843insT) was observed in the CYP1A1 gene. A statistically significant number (5.4%) of HNC cases, with the mean age of 51.75 (±15.7) years, presented this frameshift mutation in the conserved domain of CYP1A1. Another novel substitution mutation in was found in the GSTP1 gene, presenting TA instead of AG. The g.2848A > T polymorphism causes a leucine-to-leucine formation, whereas g.2849G > A causes alanine-to-threonine formation at amino acid positions 166 and 167, respectively. These exonic mutations were found in 9.5% of the HNC patients and in none of the controls. In addition, two intronic deletions of C (g.1074delC and g.1466delC) were also found in 11 patients with a mean age of 46.2 (±15.6) years. In conclusion, accumulation of mutations in genes CYP1A1 and GSTP1 appears to be associated with increased risk of developing HNC, suggesting that mutations in these genes may play a role in the etiology of head and neck cancer.

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Section: Discussionmentioning

confidence: 96%

“…Hence, the coordinated expression and regulation of phase I and II enzymes determine the outcome of carcinogen exposure. Sequence variations or polymorphisms in these genes can alter the expression, function and activity of these enzymes and, consequently, the cancer risks (Duk et al , 2004). …”

Section: Introductionmentioning

confidence: 99%

Mutational analysis of xenobiotic metabolizing genes (CYP1A1 and GSTP1) in sporadic head and neck cancer patients

Masood

Kayani

2011

Genet. Mol. Biol.

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“…The current case control study found novel substitution and frameshift mutations in pharyngeal and laryngeal cancer patients whereas no control had these mutations. Thirteen nucleotide polymorphisms in CYP1A1 gene have been reported by different researchers as cited in article by Park et al [13] th is a frame-shift mutation due to a single base insertion between 2346 and 2347. A study on Korean population of Asian origin found no already reported polymorphisms of CYP1A1 gene [13].…”

Section: Discussionmentioning

confidence: 99%

“…Thirteen nucleotide polymorphisms in CYP1A1 gene have been reported by different researchers as cited in article by Park et al [13] th is a frame-shift mutation due to a single base insertion between 2346 and 2347. A study on Korean population of Asian origin found no already reported polymorphisms of CYP1A1 gene [13]. Among these, nine polymorphisms were associated with amino acid substitutions [14].…”

Section: Discussionmentioning

confidence: 99%

Cytochrome P450 1A1 and Glutathione S-Transferase Pi 1 Mutations in Pharyngeal and Laryngeal Carcinoma

Masood¹,

Kayani²

2013

Adv Genet Eng

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Mutation and protein expression analysis of CYP1A1 gene—a study on female breast cancer cases from India

et al. 2013

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Increased risk may be associated with exposure to genotoxic agents during breast development because the undifferentiated ductal elements of breast are more susceptible to the action of genotoxic early in life and thus an impairment in Cytochrome P 4501A1 (CYP1A1) may contribute to the development of breast cancer. Therefore, we carried out the population-based study in a total of 105 Indian female breast cancer cases with equal normal adjacent controls. A total of 20 samples (20/105, 19.04 %) showed final mutations in the exon 7 of the CYP1A1 gene where 5 cases harbored frame shift mutation (deletion of G nucleotide), and the remaining were missense mutation observed in 15 cases of breast cancer with significant association to histological grade (chi square -7.20, p = 0.02), tumor stage (chi square -6.36, p = 0.01), menopausal stage (chi square -9.76, p = 0.001), and ER status (chi square -4.22, p = 0.03). We further did protein expression analysis of CYP1A1 through immunohistochemistry where 66 cases showed down or no expression (+) (66/105, 62.85 %), 28 cases with moderate expression (++) (28/105, 26.66 %), and 11 cases with high expression (+++) (11/105, 10.47 %). Highly significant associations were observed between protein expression and clinico-pathological variables like Her 2 category (chi square = 31.73, p < 0.0001) and tumor stage (chi square = 10.27, p = 0.005). Importantly, mutation(s) of the type like deletion of A nucleotide and missense mutation (Gly > Val) exclusively showed low (+) or no expression for the CYP1A1 protein when studied in relation to each other. In summary, CYP1A1 may be associated with breast cancer and its down regulation may serve as an important tool in the field of biomarker study.

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Genetic polymorphisms of CYP1A1 in a Korean population

Cited by 7 publications

References 17 publications

Mutational analysis of xenobiotic metabolizing genes (CYP1A1 and GSTP1) in sporadic head and neck cancer patients

Mutational analysis of xenobiotic metabolizing genes (CYP1A1 and GSTP1) in sporadic head and neck cancer patients

Cytochrome P450 1A1 and Glutathione S-Transferase Pi 1 Mutations in Pharyngeal and Laryngeal Carcinoma

Mutation and protein expression analysis of CYP1A1 gene—a study on female breast cancer cases from India

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