Correlation of estrogen receptor beta gene polymorphisms with spinal bone mineral density in peri- and post-menopausal Greek women

Autor: Elias Zintzaras, Nikolaos Stakias, Georgios Koukoulis, Agathocles Tsatsoulis, Zoe Efstathiadou, Anna Challa
Rok vydání: 2005
Předmět:
medicine.medical_specialty
Genotype
Population
Osteoporosis
Estrogen receptor
Polymorphism
Single Nucleotide
General Biochemistry
Genetics and Molecular Biology
Statistics
Nonparametric
Osteoporosis
Postmenopausal/*genetics
chemistry.chemical_compound
Absorptiometry
Photon
Bone Density
Bone Density/*genetics/physiology
Internal medicine
Medicine
Estrogen Receptor beta
Humans
Biological Markers/blood/urine
education
Estrogen receptor beta
Osteoporosis
Postmenopausal
Bone mineral
Creatinine
education.field_of_study
Chi-Square Distribution
Estrogen Receptor beta/*genetics/physiology
Greece
business.industry
Obstetrics and Gynecology
Middle Aged
medicine.disease
Spine
Menopause
Endocrinology
chemistry
Polymorphism
Single Nucleotide/*genetics/physiology
Female
business
Estrogen receptor alpha
Spine/physiology
Biomarkers
Zdroj: Maturitas. 53(4)
ISSN: 0378-5122
Popis: Estrogens play a significant role in bone physiology. Their action is mainly exerted through their receptors. Estrogen receptor alpha (ERα) plays a major role in bone homeostasis and there is evidence suggesting that estrogen receptor beta (ERβ) has also an effect on BMD. We investigated the possible effect of two ERβ gene polymorphisms on spinal bone mineral density (BMD) and metabolic bone markers in Greek women. Spine BMD as well as biochemical bone markers were measured in 147 healthy peri- and post-menopausal women [mean age (S.D.) 54 (7.9) years]. Genotyping was performed for two restriction fragment length polymorphisms (RFLPs) of ERβ gene, RsaI in exon 5 and AluI in exon 8. For each polymorphism studied the cohort was divided into two groups: the “wild-type” group (RR and AA, respectively) and the “carrier” group including subjects with at least one allele with the restriction site (Rr&rr and Aa&aa, respectively). The distribution of RsaI genotypes was RR: 91.2% ( n = 134), Rr: 8.2% ( n = 12), and rr: 0.6% ( n = 1) and of AluI genotypes AA: 36.7% ( n = 54), Aa: 57.2% ( n = 84), and aa: 6.1% ( n = 9). No linkage disequilibrium was found between the two polymorphic sites studied. Spine BMD did not differ significantly in the two groups of either polymorphism, after adjusting for age, weight, height, and years since menopause [mean BMD (S.D.) for RR 0.841 (0.17) g/cm 2 versus Rr&rr 0.798 (0.13) g/cm 2 , p = 0.25, and mean BMD (S.D.) for AA 0.828 (0.16) g/cm 2 versus Aa&aa 0.848 (0.17) g/cm 2 , p = 0.32]. No significant differences were noted in metabolic bone markers except for a marginal difference of RR versus Rr/rr in urinary hydroxyproline/creatinine ratio [median (IQR) 3.88 (6.04) μmol/mmol in RR versus 8.2 (4.32) μmol/mmol in Rr/rr, p = 0.05]. Furthermore, no interaction between the two polymorphisms on BMD was found. In conclusion, in a Greek female post-menopausal population, the two ERβ gene polymorphisms were not associated with BMD, or metabolic bone markers.
Databáze: OpenAIRE
Externí odkaz: