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Human Molecular Genetics, 2000, Vol. 9, No. 13 2043-2050
© 2000 Oxford University Press

Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor {alpha} gene and their relationship to bone mass variation in postmenopausal Italian women

Lucia Becherini1, Luigi Gennari1, Laura Masi1, Riccardo Mansani1, Francesco Massart1,2, Annamaria Morelli1, Alberto Falchetti1, Stefano Gonnelli3, Gianna Fiorelli1, Annalisa Tanini4 and Maria Luisa Brandi1,+

1Endocrine Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy, 2Scuola Superiore S. Anna, Pisa, Italy, 3Institute of Internal Medicine, University of Siena, Siena, Italy and 4Department of Internal Medicine University of Florence, Florence, Italy

Bone mineral density (BMD), the major determinant of osteoporotic fracture risk, has a strong genetic component. The discovery that inactivation of estrogen receptor {alpha} (ER{alpha}) gene is associated with low BMD indicated ER{alpha} as a candidate gene for osteoporosis. We have investigated the role of three ER{alpha} gene polymorphisms [intron 1 PvuII and XbaI RFLPs and TA dinucleotide repeat polymorphism 5' upstream of exon 1] in 610 postmenopausal women. There was a strong linkage disequilibrium between intron 1 polymorphic sites and also between these sites and the microsatellite (TA)n dinucleotide polymorphism, with a high degree of coincidence of the short TA alleles and the presence of PvuII and XbaI restriction sites. No significant relationship between intron 1 RFLPs and BMD was observed. A statistically significant correlation between (TA)n repeat allelic variants and lumbar BMD was observed (P = 0.04, ANCOVA), with subjects with a low number of repeats (TA < 15) showing the lowest BMD values. We observed a statistically significant difference in the mean ± SD number of TA repeats between analyzed women with a vertebral fracture (n = 73) and the non-fracture group, equivalent to 2.9 (95% CI 1.56–5.72) increased fracture risk in women with a low number of repeats (TA < 15). We conclude that in this large population sample the (TA)n dinucleotide repeat polymorphism at the 5' end of the ER{alpha} gene accounts for part of the heritable component of BMD and might prove useful in the prediction of vertebral fracture risk in postmenopausal osteoporosis.

+ To whom correspondence should be addressed. Tel: +39 55 4271404; Fax: +39 55 2337867; Email: m.brandi@dfc.unifi.it


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