Age-specific effects of estrogen receptors' polymorphisms on the bone traits in healthy fertile women: the BONTURNO stud
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Age-specific effects of estrogen receptors' polymorphisms on the bone traits in healthy fertile women: the BONTURNO study Francesco Massart1, Francesca Marini2, Gerolamo Bianchi3, Salvatore Minisola4, Giovanni Luisetto5, Antonella Pirazzoli6, Sara Salvi6, Dino Micheli6, Laura Masi2 and Maria Luisa Brandi*2 Address: 1Department of Pediatrics, University of Pisa, Pisa, Italy, 2Department of Internal Medicine, University of Florence, Florence, Italy, 3Rheumatology Unit, Azienda Sanitaria 3, Genova, Italy, 4Department of Clinical Sciences, II Clinica Medica, Rome, Italy, 5Endocrine Unit, University of Padua, Padua, Italy and 6GlaxoSmithKline-Italia, Verona, Italy Email: Francesco Massart - [email protected]; Francesca Marini - [email protected]; Gerolamo Bianchi - [email protected]; Salvatore Minisola - [email protected]; Giovanni Luisetto - [email protected]; Antonella Pirazzoli - [email protected]; Sara Salvi - [email protected]; Dino Micheli - [email protected]; Laura Masi - [email protected]; Maria Luisa Brandi* - [email protected] * Corresponding author
Published: 22 April 2009 Reproductive Biology and Endocrinology 2009, 7:32
doi:10.1186/1477-7827-7-32
Received: 5 February 2009 Accepted: 22 April 2009
This article is available from: http://www.rbej.com/content/7/1/32 © 2009 Massart et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract Background: Skeletal characteristics such as height (Ht), bone mineral density (BMD) or bone turnover markers are strongly inherited. Common variants in the genes encoding for estrogen receptor alpha (ESR1) and beta (ESR2) are proposed as candidates for influencing bone phenotypes at the population level. Methods: We studied 641 healthy premenopausal women aged 20–50 years (yrs) participating into the BONTURNO study. Exclusion criteria were irregular cyclic menses, low trauma fracture, metabolic bone or chronic diseases. Serum C-telopeptide of type I collagen (CTX), osteocalcin (OC), and N-terminal propeptide of type I procollagen (P1NP) were measured in all enrolled subjects, who underwent to lumbar spine (LS), total hip (TH) and femoral neck (FN) BMD evaluation by DXA. Five hundred seventy Caucasian women were genotyped for ESR1 rs2234693 and rs9340799 and ESR2 rs4986938 polymorphisms. Results: Although no genotype differences were found in body parameters, subjects with combined ESR1 CCGG plus ESR2 AA-AG genotype were taller than those with opposite genotype (P = 0.044). Moreover, ESR1 rs2234693 genotypes correlated with family history of osteoporosis (FHO) and hip fracture (FHF) (P < 0.01), while ESR2 AA-AC genotypes were strongly associated with FHF (OR 2.387, 95% CI 1.432– 3.977; P < 0.001). When clustered by age,
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