RANKL and OPG Gene Polymorphisms: Association with Vertebral Fractures and Bone Mineral Density in Premenopausal Systemic Lupus Erythematosus

Alessandra C. Bonfa¹, Luciana P.C. Seguro², Valéria Caparbo³, Eloisa Bonfa³ and Rosa M R Pereira³, ¹Rheumatology, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil, ²Division of Rheumatology, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil, ³Rheumatology Division, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil

Meeting: 2014 ACR/ARHP Annual Meeting

Keywords: Bone density, osteoprotegerin and polymorphism, RANK/RANKL pathway, SLE

Session Information

Title: Osteoporosis and Metabolic Bone Disease - Clinical Aspects and Pathogenesis: Osteoporosis: Pathogenesis, Epidemiology and Diagnosis

Session Type: Abstract Submissions (ACR)

Background/Purpose

To evaluate single nucleotide polymorphisms (SNPs) of the receptor activator of NF-κB ligand (RANKL), RANK and osteoprotegerin (OPG) genes in premenopausal systemic lupus erythematosus (SLE) patients and their association with sRANKL and OPG serum levels, vertebral fractures and bone mineral density(BMD).

Methods

211 premenopausal SLE patients (ACR criteria) and 154 healthy controls were enrolled. SNPs of RANKL 290A>G (rs2277438), OPG 1181G>C (rs2073618), 245T>G (rs3134069), 163 A>G (rs3102735) and RANK A>G (rs3018362) were obtained by real-time PCR. sRANKL/OPG serum levels were determined by ELISA. BMD and vertebral fractures were evaluated by dual energy X-ray absorptiometry.

Results

SLE patients and controls had similar frequencies of the RANKL 290 G allele (p=0.91), OPG 1181 C allele (p=0.83), OPG 245 G allele (p=0.80), OPG 163 G allele (p=1.00) and RANK G allele (p=0.75). Further analysis of SLE patients revealed that the frequency of the RANKL 290 G allele was lower in patients with fractures than in patients without fractures (28.1 vs. 46.9%, p=0.01). In addition, the frequency of the OPG 245 G allele was higher in patients with low BMD than in patients with normal BMD (31.4 vs. 18.1%, p=0.04). No association of OPG 1181 G>C, OPG 163 A>G and RANK A>G SNPs with BMD/fractures was found. Additionally, no association was observed between RANKL/OPG/RANK SNPs and sRANKL/OPG serum levels.

Conclusion

Our study provides novel data demonstrating that RANKL/OPG genetic variations play a role in bone remodeling and, particularly, in its major complication, fracture, in premenopausal patients with SLE.

Disclosure:

A. C. Bonfa,
None;

L. P. C. Seguro,
None;

V. Caparbo,
None;

E. Bonfa,
None;

R. M. R. Pereira,
None.

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