Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2013) 32 P104 | DOI: 10.1530/endoabs.32.P104

ECE2013 Poster Presentations Bone and Osteoporosis (41 abstracts)

Vitamin D receptor, BsmI, FokI, ApaI, TaqI and estrogen receptor alpha, PvuII and XbaI, gene polymorphisms in women with osteoporosis

Susana Vladoiu 1 , Sabina Oros 1 , Dana Manda 1 , Roxana Rosca 1, & Olga Ianas 1


1C.I. Parhon National Institute of Endocrinology, Bucharest, Romania 2Carol Davila University of Medicine and Farmacy, Bucharest, Romania.


Objective: The aim of this study was to determine the frequencies of vitamin D receptor (VDR) Bsm1, Fok1, ApaI, TaqI and estrogen receptor α (ESR1) PvuII and XbaI polymorphisms in Romanian patients and to investigate their involvement in postmenopausal osteoporosis.

Methods: The study was carried out on 82 postmenopausal women, aged over 60, divided into two groups: group 1-postmenopausal women with osteoporosis (34 subjects), group 2-postmenopausal women without osteoporosis (48 controls). The hematological and biochemical profiles were evaluated. ESR1 (XbaI and PvuII) and VDR (Bsm I, ApaI, TaqI and FokI) polymorphisms were determined by PCR-RFLP method on genomic DNA.

Results: Bsm1, Fok1, Apa I and Taq I allele distribution were in Hardy Weinberg equilibrium with no significant differences between group 1 and 2. There were significant differences between distributions of PvuII, IVS-1 −397 T/C and XbaI, IVS-1 −351 A/G genotypes in osteoporosis group compared to healthy women. G allele of XbaI polymorphism seems to be a risk allele for osteoporosis (P=0.03, OR=7.6). No association was found between BMD and VDR polymorphisms.

Conclusions: The genotype and allele frequency distributions were in Hardy–Weinberg equilibrium excepting ESR1, Xba I, G allele that seems to be a risk allele for osteoporosis. VDR polymorphisms showed no significant difference between osteoporosis and control group.

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