Estrogen Receptor β Polymorphisms Are Associated With Bone Mass in Women and Men: The Framingham Study†

摘要: ESR2 is expressed in bone cells, yet few studies have tested its variation for association with BMD, an important determinant of osteoporotic fractures. This was investigated 723 men and 795 women from the Framingham study. Results show this gene BMD both men. Introduction: Osteoporotic fracture risk highly dependent on density, a quantitative multifactorial trait substantial genetic component. In contrast to growing body evidence that estrogen receptor α (ESR1) plays role metabolism, examined β (ESR2) BMD. An CA repeat polymorphism, D14S1026, associated two small studies, each <200 women. Materials Methods: The objective investigation assess whether D14S1026 or four other intronic polymorphisms were (mean age, 60 years) offspring cohort population-based Study. measured at femur (neck, trochanter, Ward's area) lumbar spine (L2-L4). Results: men, there significant genotype measures femoral but not spinal addition, genotypes common single nucleotide polymorphisms, rs1256031 rs1256059, strong linkage disequilibrium one another men. had up 4.0% difference mean inferred rs1256031-D14S1026-rs1256059 haplotype C-23CA-T significantly reduced (p = 0.03, 0.003, 0.01 neck, area, respectively). Haplotype-based differences ranged 3.0% 4.3%. Conclusions: We observed variants women.