CYP1A1, GSTM1, GSTT1 and GSTP1 polymorphisms in an Afro-Brazilian group

Kvitko, Kátia; Gaspar, Pedro; Hutz, Mara Helena

doi:10.1590/s1415-47572006000400006

Cited by 4 publications

(4 citation statements)

References 18 publications

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“…The GSTM1 null genotype frequency was comparable to those reported in other studies with Brazilian and non--Brazilian populations 9,[21][22][23][24][25] . Similarly, the GSTP1 polymorphism genotype frequencies was similar to those found in other Brazilian studies 20,23 , and in studies in non-Brazilian populations predominantly with European ancestry 26,27 , but considerably different from those described in studies of China and Australia 28,29 . Finally, the frequency of the GSTT1 null gene in this sample was much lower than previously found in other Western countries 4,28 .…”

Section: Discussionsupporting

confidence: 84%

“…The frequencies of GSTM1 and GSTT1 null genotypes found in this study were not different from those described in previous publications involving subjects from southern Brazil 18,20 (Supplemental Materials, Tables S1 and S2). The GSTM1 null genotype frequency was comparable to those reported in other studies with Brazilian and non--Brazilian populations 9,[21][22][23][24][25] .…”

Section: Discussioncontrasting

confidence: 70%

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GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submitted to breast cancer screening

Aguiar

Giacomazzi

Schmidt

et al. 2012

Rev. bras. epidemiol.

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Genetic polymorphisms in genes related to the metabolism of xenobiotics, such as genes of the glutathione S-transferases (GSTM1, GSTT1, and GSTP1) superfamily have been associated with an increased risk for breast cancer (BC). Considering the high incidence of BC in the city of Porto Alegre in southern Brazil, the purpose of this study was to characterize genotypic and allelic frequencies of polymorphisms in GSTM1, GSTT1, and GSTP1, and correlate these molecular findings with established risk factors for breast cancer including mammographic density, in a sample of 750 asymptomatic women undergoing mammographic screening. Molecular tests were performed using the multiplex polymerase chain reaction (PCR) for GSTM1 and GSTT1, and quantitative PCR for GSTP1 polymorphisms. Overall, the frequencies of GSTM1 and GSTT1 null genotypes were 45% and 21%, respectively. For GSTP1 polymorphism, genotypic frequencies were 44% for the Ile/Ile genotype, 44% for the Ile/Val genotype, and 12% for Val/Val genotype, with an allelic frequency of 66% for the wild type allele in this population, similar to results of previous international publications. There was a statistically significant association between the combined GSTM1 and GSTT1 null genotypes (M-/T-) and mammographic density in post menopausal women (p = 0.031). When the GSTT1 null (T-) genotype was analyzed isolated, the association with mammographic density in post menopausal women and in the overall sample was also statistically significant (p = 0.023 and p = 0.027, respectively). These findings suggest an association of GSTM1 and GSTT1 null genotypes with mammographic density.

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Section: Discussionsupporting

confidence: 84%

Section: Discussioncontrasting

confidence: 70%

GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submitted to breast cancer screening

Aguiar

Giacomazzi

Schmidt

et al. 2012

Rev. bras. epidemiol.

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“…Other studies involving genes of xenobiotic metabolism have been performed in order to describe the frequency of the mutant alleles and genotypes in different healthy populations ( Garte et al , 2001 ; Gaspar et al , 2002 ; Menoyo et al , 2006 ). Some studies carried out in the Brazilian population described mutant allele and genotype frequencies in several regions ( Arruda et al , 1998 ; Gattás and Soares Viera, 2000; Gaspar et al , 2002 ; Losi-Guembarovski et al , 2002 ; Rossini et al , 2002 ; Amorim et al , 2004 ; Gattás et al , 2004; Hatagima et al , 2004 ; Kvitko et al , 2006 ; Rossini et al , 2006 ).…”

mentioning

confidence: 99%

Population analysis of xenobiotic metabolizing genes in South Brazilian Euro and Afro-descendants

et al. 2009

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Individual variability in xenobiotic metabolism has been associated with susceptibility to developing complex diseases. Genes involved in xenobiotic metabolism have been evaluated in association studies; the difficulty of obtaining accurate gene frequencies in mixed populations makes interpretation of the results difficult. We sought to estimate population parameters for the cytochrome P450 and glutathione S-transferase gene families, thus contributing to studies using these genes as markers. We describe the frequencies of six genes (CYP1A1, CYP2D6, CYP2E1, GSTM1, GSTT1, and GSTP1) and estimate population parameters in 115 Euro-descendants and 196 Afro-descendants from Curitiba, South of Brazil. PCR-based methods were used for genotyping, and statistical analysis were performed by AMOVA with ARLEQUIN software. The mutant allele frequencies in the Afro-descendants and Euro-descendants, respectively, were: CYP1A1*2A = 30.1% and 15.2%; CYP2D6*4 = 14.5% and 21.5%; CYP2E1*5B = 7.9% and 5%; GSTP1*B = 37.8% and 28.3%. The null genotype frequencies were: GSTM1*0 = 36.8% and 46.1%; GSTT1*0 = 24.2% and 17.4%.Key words: CYP, GST, population study. Genetic marker studies assessing individual backgrounds from specific populations can provide information on gene flow, evolutionary history, and population dispersions, and can also help in the prediction of risks for particular diseases. Based on these studies, pharmacogenetic data have shown significant inter-and intra-population differences in the metabolism, efficiencies, and toxicities of several types of drugs. These findings have important implications for the management and treatment of human diseases (Kittles and Weiss, 2003).Many different enzyme families are involved in xenobiotic metabolism, including cytochrome P450 (CYPs) in phase I, as well as glutathione S-transferases (GSTs) and N-acetyl-transferases (NATs) in phase II (Autrup, 2000). Several genes of the CYP family have been studied in many populations (e.g., Europeans, Africans, Asians, and their mixed descendants) in case-control studies of complex diseases. With regard to cancers, these studies focus primarily on lung, breast, and head and neck tumors (Olshan et al.,

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“…The GSTT1 gene is located on chromosome 22q11.2, and it is also polymorphic in the population, with null allele frequencies ranging between 20 and 60% in different human populations 8 . The GSTP1 gene is located on chromosome 11q13, and the presence of a polymorphism at codon 105 (substitution of isoleucine to valine, rs1695) appears to result in reduced activity of the GSTP1 enzyme 9 .…”

Section: Introductionmentioning

confidence: 99%

Frequency of Genetic Polymorphism in Gstm1, Gstt1 and Gstp1 Genes Associated With Breast Cancer in Women: A Review

Aguiar¹,

Garcia²,

Vargas³

et al. 2022

JHS

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Genetic polymorphisms in genes related to the metabolism of xenobiotics, how the genes of the glutathione S-transferases superfamily (GSTM1, GSTT1 and GSTP1) have been associated with an increased risk for breast cancer (BC). A literature review was performed using the database PubMed, verifying the frequency of GSTM1, GSTT1 and GSTP1 polymorphisms in studies associated with breast cancer in the last decade, including 27 studies, 14 verified the frequency of GSTM1 and GSTT1 null polymorphisms in women without cancer and 22 in women with cancer; and for the GSTP1 gene, 12 studies verified the genotypic frequency of GSTP1 A/G in women without breast cancer and 18 in women with breast cancer. The mean frequency of the GSTT1 and GSTM1 null genes found in studies with women without breast cancer was 28% and 45% and the mean allele frequencies of the GSTP1 gene for women without breast cancer was 57.7% for the Ile allele and 34% for the Val allele, and the mean frequency of the GSTT1 and GSTM1 null genes found in studies with women with breast cancer was 34.7% and 41.4% and the mean allele frequencies of the GSTP1 gene for women with breast cancer was 59.8% for the Ile allele and 40.2% for the Val allele. Therefore, considering the importance of these genes in carcinogen metabolism, together with the allelic and genotypic frequencies of the polymorphisms studied in this review that differ from one study to another, we suggest that other factors may influence this distribution.

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CYP1A1, GSTM1, GSTT1 and GSTP1 polymorphisms in an Afro-Brazilian group

Cited by 4 publications

References 18 publications

GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submitted to breast cancer screening

GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submitted to breast cancer screening

Population analysis of xenobiotic metabolizing genes in South Brazilian Euro and Afro-descendants

Frequency of Genetic Polymorphism in Gstm1, Gstt1 and Gstp1 Genes Associated With Breast Cancer in Women: A Review

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