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OBJECTIVE: To examine the relationship between estrogen receptor (ER) a and ss gene polymorphisms and bone mass. METHODS: Bone mineral density (BMD) was measured at the lumbar spine and proximal femur twice, 4 years apart, in a cohort of 147 men and 125 women aged 61-73 years. Genomic DNA was extracted from whole blood samples, and genotyping for the ER (PvuII, XbaI, and AluI) was undertaken. RESULTS: There were no significant associations between either the XbaI or PvuII polymorphisms and bone mass, or bone loss in the cohort as a whole. However, men homozygous for the aa beta receptor polymorphism had higher BMD at the lumbar spine (p = 0.05), femoral neck (p = 0.01), and total femur (p = 0.01). Women homozygous for aa had lower femoral neck and total femoral BMD than women of the AA or Aa genotypes (p = 0.01 and p = 0.02). Gender*ERbeta interaction terms were statistically significant (p = 0.02 for lumbar spine BMD, p = 0.0004 for femoral neck BMD, and p = 0.0003 for total femoral BMD, each test with 2 degrees of freedom unadjusted). Adjustment for sex hormone concentration and lifestyle factors made little difference to our results. CONCLUSION: We found relationships between the ERbeta gene and the determination of bone mass among men and women in their seventh decade.


Journal article


The Journal of rheumatology

Publication Date





2400 - 2404


MRC Epidemiology Resource Centre, University of Southampton, Southampton General Hospital, Southampton, England.


Hertfordshire Cohort Study Group, Femur, Femur Neck, Lumbar Vertebrae, Humans, Estrogen Receptor alpha, Estrogen Receptor beta, Cohort Studies, Longitudinal Studies, Sex Characteristics, Bone Density, Genotype, Haplotypes, Homozygote, Polymorphism, Genetic, Aged, Middle Aged, Female, Male