Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2013) 32 P89 | DOI: 10.1530/endoabs.32.P89

ECE2013 Poster Presentations Bone and Osteoporosis (41 abstracts)

Association of the (TTTA)n repeat polymorphism of CYP19 gene with bone mineral density in Greek peri- and postmenopausal women

Anastasia Markatseli 1 , Leandros Lazaros 2 , Harilaos Kostoulas 2 , Prodromos Sakaloglou 2 , Sofia Markoula 2 , Stelios Tigas 1 , Ioannis Georgiou 2 & Agathocles Tsatsoulis 1

1Department of Endocrinology, University of Ioannina, Ioannina, Greece; 2Laboratory of Human Reproductive Genetics, Department of Obstetrics and Gynaecology, University of Ioannina, Ioannina, Greece.

Introduction: Aromatase is encoded by the CYP19 gene and catalyzes the conversion of androgens to estrogens, which in turn regulate skeletal homeostasis. Polymorphisms in the CYP19 gene have been studied for their association with bone mineral density (BMD) in the general population with mixed results.

Objectives: To explore the influence of the CYP19 (TTTA)n repeat polymorphism on BMD and serum levels of osteoprotegerin (OPG), receptor activator of nuclear factor-κB ligand (RANKL) and bone metabolic markers in a Greek female population.

Methods: Two hundred and seventeen peri- and postmenopausal women aged 42–63 years were enrolled. All participants underwent spinal BMD evaluation by dual-energy X-ray absorptiometry (DXA). Genotyping of the (TTTA)n repeat polymorphism was performed by PCR. Levels of OPG, soluble RANKL (sRANKL) and bone metabolic markers were measured.

Results: Genotype analysis revealed alleles having 7–12 TTTA repeats. Women carrying the (TTTA)11 and/ or (TTTA)12 alleles had significantly higher spinal BMD than women not carrying these alleles in both the total study population as well as in the subgroup of women with osteoporosis (P=0.042 and P=0.006 respectively). The aforementioned associations remained significant after adjustment for age, years since menopause, smoking and BMI (P=0.048 and P=0.023, respectively by multivariate analysis). No association of the (TTTA)n polymorphism with circulating levels of OPG, sRANKL, and bone metabolic markers was observed.

Conclusions: The (TTTA)n polymorphism of the CYP19 gene influences BMD at the lumbar spine in peri- and postmenopausal Greek women and is potentially involved in the regulation of bone metabolism.

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