Open Access Open Badges Research article

Association of LRP5 genotypes with osteoporosis in Tunisian post-menopausal women

Rim Sassi13*, Hela Sahli1, Chiraz Souissi3, Hejer El Mahmoudi3, Bechir Zouari1, Amel Ben Ammar ElGaaied3, Slaheddine Sellami1 and Serge Livio Ferrari2

Author Affiliations

1 Osteoporosis and Arthritis laboratory, Rabta hospital, Faculty of Medicine of Tunis, Tunis EL Manar University, Tunis, Tunisia

2 Division of Bone Diseases, Rehabilitation and Geriatrics Department, Geneva University Hospital and Faculty of Medicine, Geneva, Switzerland

3 Genetics, immunology and human pathologies Laboratory, Faculty of Mathematical, Physical and Natural Sciences of Tunis, Tunis EL Manar University, Tunis, Tunisia

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BMC Musculoskeletal Disorders 2014, 15:144  doi:10.1186/1471-2474-15-144

Published: 30 April 2014



Osteoporosis is a highly heritable trait. Among the genes associated with bone mineral density (BMD), the low-density lipoprotein receptor-related protein 5 gene (LRP5) has been consistently identified in Caucasians. However LRP5 contribution to osteoporosis in populations of other ethnicities remains poorly known.


To determine whether LRP5 polymorphisms Ala1330Val and Val667Met are associated with BMD in North Africans, these genotypes were analyzed in 566 post-menopausal Tunisian women with mean age of 59.5 ± 7.7 years, of which 59.1% have low bone mass (T-score < −1 at spine or hip).


In post-menopausal Tunisian women, 1330Val was weakly associated with reduced BMD T-score at lumbar spine (p = 0.047) but not femur neck. Moreover, the TT/TC genotypes tended to be more frequent in women with osteopenia and osteoporosis than in women with normal BMD (p = 0.066). Adjusting for body size and other potential confounders, LRP5 genotypes were no longer significantly associated with aBMD at any site.


The less common Val667Met polymorphism showed no association with osteoporosis. The Ala1330Val polymorphism is weakly associated with lower lumbar spine bone density and osteopenia/osteoporosis in postmenopausal Tunisian women. These observations expand our knowledge about the contribution of LRP5 genetic variation to osteoporosis risk in populations of diverse ethnic origin.

LRP5; Ala1330Val; Val667Met; Lumbar spine BMD; Fractures; Post-menopausal Tunisian population