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The association between the 844ins68 polymorphism in the CBS gene and breast cancer.

Gallegos-Arreola MP, Figuera-Villanueva LE, Ramos-Silva A, Salas-González E, Puebla-Pérez AM, Peralta-Leal V, García-Ortiz JE, Dávalos-Rodríguez IP, Zúñiga-González GM - Arch Med Sci (2014)

Bottom Line: Polymorphisms of CBS have been associated with cancer.We found that the odds ratio (OR) was 2.2, with a 95% confidence interval (95% CI) of 1.5-3.3, p = 0.0001.We conclude that the genotypes W/Ins-Ins/Ins of the 844ins68 polymorphism in the CBS gene contribute significantly to BC susceptibility in the analyzed sample from the Mexican population.

View Article: PubMed Central - PubMed

Affiliation: Laboratorio de Genética Molecular, División de Medicina Molecular, Centro de Investigación Biomédica de Occidente (CIBO), Centro Médico Nacional de Occidente (CMNO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, México.

ABSTRACT

Introduction: The cystathionine beta synthase (CBS) gene plays an important role in homocysteine metabolism because it catalyzes the first step of the transsulfuration pathway, during which homocysteine is converted to cystathionine. Polymorphisms of CBS have been associated with cancer.

Material and methods: We examined the role of the 844ins68 polymorphism by comparing the genotypes of 371 healthy Mexican women with the genotypes of 323 Mexican women with breast cancer (BC).

Results: The observed genotype frequencies for controls and BC patients were 1% and 2% for Ins/Ins, 13% and 26% for W/Ins, and 86% and 72% for W/W, respectively. We found that the odds ratio (OR) was 2.2, with a 95% confidence interval (95% CI) of 1.5-3.3, p = 0.0001. The association was also evident when comparing the distribution of the W/Ins-Ins/Ins genotypes in patients in the following categories: 1) menopause and high γ-glutamyltransferase (GGT) levels (OR of 2.17, 95% CI: 1.17-4.26, p = 0.02), 2) chemotherapy response and high lactate dehydrogenase (LDH) levels (OR 2.2, 95% CI: 1.08-4.4, p = 0.027), 3) chemotherapy response and high GGT levels (OR 2.46, 95% CI: 1.2-4.8, p = 0.007), and 4) body mass index (BMI) and III-IV tumor stage (OR 3.2, 95% CI: 1.2-8.3, p = 0.013).

Conclusions: We conclude that the genotypes W/Ins-Ins/Ins of the 844ins68 polymorphism in the CBS gene contribute significantly to BC susceptibility in the analyzed sample from the Mexican population.

No MeSH data available.


Related in: MedlinePlus

Schematic representation of CBS gene locus on 21 chromosome, indicating position of T833C (intron 7) and 844ins68 (exon 8) polymorphisms
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Figure 0001: Schematic representation of CBS gene locus on 21 chromosome, indicating position of T833C (intron 7) and 844ins68 (exon 8) polymorphisms

Mentions: The CBS gene, which is located on chromosome 21q22.3, codes for an enzyme that participates in the folate pathway and catalyzes the transsulfuration of homocysteine and serine to cystathionine as a cysteine precursor [8]. CBS deficiency can modify the stability of a domain or residue in the hydrophobic core, which leads to degradation of the CBS protein. This produces elevated levels in the plasma of homocysteine and methionine, which consequently alter methylation processes [8]. Therefore, a CBS deficiency may have a potential impact on oncogenesis (Figure 1) [9].


The association between the 844ins68 polymorphism in the CBS gene and breast cancer.

Gallegos-Arreola MP, Figuera-Villanueva LE, Ramos-Silva A, Salas-González E, Puebla-Pérez AM, Peralta-Leal V, García-Ortiz JE, Dávalos-Rodríguez IP, Zúñiga-González GM - Arch Med Sci (2014)

Schematic representation of CBS gene locus on 21 chromosome, indicating position of T833C (intron 7) and 844ins68 (exon 8) polymorphisms
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4296076&req=5

Figure 0001: Schematic representation of CBS gene locus on 21 chromosome, indicating position of T833C (intron 7) and 844ins68 (exon 8) polymorphisms
Mentions: The CBS gene, which is located on chromosome 21q22.3, codes for an enzyme that participates in the folate pathway and catalyzes the transsulfuration of homocysteine and serine to cystathionine as a cysteine precursor [8]. CBS deficiency can modify the stability of a domain or residue in the hydrophobic core, which leads to degradation of the CBS protein. This produces elevated levels in the plasma of homocysteine and methionine, which consequently alter methylation processes [8]. Therefore, a CBS deficiency may have a potential impact on oncogenesis (Figure 1) [9].

Bottom Line: Polymorphisms of CBS have been associated with cancer.We found that the odds ratio (OR) was 2.2, with a 95% confidence interval (95% CI) of 1.5-3.3, p = 0.0001.We conclude that the genotypes W/Ins-Ins/Ins of the 844ins68 polymorphism in the CBS gene contribute significantly to BC susceptibility in the analyzed sample from the Mexican population.

View Article: PubMed Central - PubMed

Affiliation: Laboratorio de Genética Molecular, División de Medicina Molecular, Centro de Investigación Biomédica de Occidente (CIBO), Centro Médico Nacional de Occidente (CMNO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, México.

ABSTRACT

Introduction: The cystathionine beta synthase (CBS) gene plays an important role in homocysteine metabolism because it catalyzes the first step of the transsulfuration pathway, during which homocysteine is converted to cystathionine. Polymorphisms of CBS have been associated with cancer.

Material and methods: We examined the role of the 844ins68 polymorphism by comparing the genotypes of 371 healthy Mexican women with the genotypes of 323 Mexican women with breast cancer (BC).

Results: The observed genotype frequencies for controls and BC patients were 1% and 2% for Ins/Ins, 13% and 26% for W/Ins, and 86% and 72% for W/W, respectively. We found that the odds ratio (OR) was 2.2, with a 95% confidence interval (95% CI) of 1.5-3.3, p = 0.0001. The association was also evident when comparing the distribution of the W/Ins-Ins/Ins genotypes in patients in the following categories: 1) menopause and high γ-glutamyltransferase (GGT) levels (OR of 2.17, 95% CI: 1.17-4.26, p = 0.02), 2) chemotherapy response and high lactate dehydrogenase (LDH) levels (OR 2.2, 95% CI: 1.08-4.4, p = 0.027), 3) chemotherapy response and high GGT levels (OR 2.46, 95% CI: 1.2-4.8, p = 0.007), and 4) body mass index (BMI) and III-IV tumor stage (OR 3.2, 95% CI: 1.2-8.3, p = 0.013).

Conclusions: We conclude that the genotypes W/Ins-Ins/Ins of the 844ins68 polymorphism in the CBS gene contribute significantly to BC susceptibility in the analyzed sample from the Mexican population.

No MeSH data available.


Related in: MedlinePlus