République Tunisienne Ministère de l'Enseignement Supérieur et de la Recherche Scientifique

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Article

Polymorphisms in VDR gene in Tunisian postmenopausal women are associated with osteopenia phenotype 

Sassi Rim, Sahli Hela, Souissi Chiraz, Sellami Slaheddine, BEN AMMAR GAIED Amel, 2015

CLIMACTERIC, 18, 18, 1-7, Avril 2015

Résumé

Objectives Osteopenia is characterized by intermediate values of bone mineral density (BMD) as compared
to normal and osteoporotic subjects. BMD, a surrogate phenotype for osteoporosis, is influenced in part by
genetic factors. Among the genes associated with BMD, the vitamin D receptor (VDR) was the first gene
studied as a potential candidate associated with BMD in adult and postmenopausal bone loss. However,
results are controversial.
Methods To determine whether VDR polymorphisms ApaI and TaqI are associated with BMD, osteopenia,
osteoporosis and low-impact fracture risk in North Africans, these genotypes were analyzed in 566
postmenopausal Tunisian women.
Results In postmenopausal Tunisian women, the GT ApaI genotype seems to be protective against
osteoporosis development (p  0.02; odds ratio  0.54). Moreover, the presence of the combined GT/TT
genotype of ApaI and TaqI polymorphisms is more frequent in normal BMD women than in osteoporotic
women (p  0.00; odds ratio  0.41). Interestingly, the GG ApaI genotype is associated with osteopenia
development (p  0.02; odds ratio  1.86) and also the TT TaqI polymorphism (p  0.02; odds ratio  1.53).
The GG ApaI genotype is associated with a three times risk of vertebral fracture.
Conclusions The ApaI polymorphism showed an association with osteopenia and low-impact vertebral
fracture incidence but not with osteoporosis. The TaqI polymorphism is associated specifically with the
osteopenia phenotype. The presence of the two polymorphisms increases the risk to develop osteopenia in
postmenopausal Tunisian women. Osteopenia seems to be geneticall
Objectives Osteopenia is characterized by intermediate values of bone mineral density (BMD) as comparedto normal and osteoporotic subje

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