Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women

Autor: D. Duarte Filho, Patricia Ashton-Prolla, Ernestina Silva de Aguiar, Giovana Skonieski, Maira Caleffi, Maria Luiza Saraiva-Pereira, Edenir Inêz Palmero, Juliana Giacomazzi, Ingrid Petroni Ewald, Lavinia Schuler-Faccini, Roberto Giugliani, Hugo Bock, Aishameriane Venes Schmidt, Suzi Alves Camey
Rok vydání: 2011
Předmět:
Physiology
Receptores estrogenicos
Polimorfismo genético
Biochemistry
Body Mass Index
Gene Frequency
Risk Factors
Genotype
Prevalence
Medicine
General Pharmacology
Toxicology and Pharmaceutics
Deoxyribonucleases
Type II Site-Specific
Breast Density
Progesterone receptor gene
General Neuroscience
General Medicine
Middle Aged
Menarche
Female
Receptors
Progesterone
Brazil
Adult
medicine.medical_specialty
Short Communication
Immunology
Biophysics
Breast Neoplasms
Receptores de progesterona
Genetic polymorphisms
Breast cancer
Internal medicine
Humans
Genetic Predisposition to Disease
Allele
Mammary Glands
Human
Allele frequency
Aged
Polymorphism
Genetic
Breast cancer susceptibility
business.industry
Haplotype
Estrogen Receptor alpha
Cell Biology
Neoplasias da mama
medicine.disease
Endocrinology
Estrogen receptor gene
business
Estrogen receptor alpha
Body mass index
Zdroj: Brazilian Journal of Medical and Biological Research
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
ISSN: 1414-431X
Popis: Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies of the ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms and investigated their relationship with mammographic density, body mass index (BMI) and other risk factors for BC. A consecutive and unselected sample of 750 Brazilian BC-unaffected women enrolled in a mammography screening program was recruited. The distribution of PGR PROGINS genotypic frequencies was 72.5, 25.5 and 2.0% for A1A1, A1A2 and A2A2, respectively, which was equivalent to that encountered in other studies with healthy women. The distribution of ERα genotypes was: ERα-397 PvuII C/T: 32.3% TT, 47.5% TC, and 20.2% CC; ERα-351 XbaI A/G: 46.3% AA, 41.7% AG and 12.0% GG. ERα haplotypes were 53.5% PX, 14.3% Px, 0.3% pX, and 32.0% px. These were significantly different from most previously published reports worldwide (P < 0.05). Overall, the PGR PROGINS genotypes A2A2 and A1A2 were associated with fatty and moderately fatty breast tissue. The same genotypes were also associated with a high BMI in postmenopausal women. In addition, the ERα-351 XbaI GG genotype was associated with menarche ≥12 years (P = 0.02). ERα and PGR polymorphisms have a phenotypic effect and may play an important role in BC risk determination. Finally, if confirmed in BC patients, these associations could have important implications for mammographic screening and strategies and may be helpful to identify women at higher risk for the disease.
Databáze: OpenAIRE
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