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International Orthopaedics
Published in: International Orthopaedics 11/2013

01-11-2013 | Original Paper

Endothelial nitric oxide synthase gene polymorphisms and the risk of osteonecrosis of the femoral head in systemic lupus erythematosus

Authors: Hak Soo Kim, Sang-Cheol Bae, Tae-Ho Kim, Shin-Yoon Kim

Published in: International Orthopaedics | Issue 11/2013

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Abstract

Purpose

Nitric oxide (NO), a short-lived gaseous free radical, is a potent mediator of biological responses involved in the pathogenesis of autoimmune rheumatic diseases, such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Nitric oxide also serves as an important signal in physiological processes, including angiogenesis, thrombosis, and bone turnover, which are known to be related to the pathogenesis of osteonecrosis. We investigated whether NOS3 gene polymorphisms are associated with risk of osteonecrosis of the femoral head (ONFH).

Methods

Five polymorphisms in the NOS3 gene were genotyped using TaqMan assays in 306 controls, 150 SLE patients, and 50 SLE patients with ONFH (SLE_ONFH).

Results

We found that Asp258Asp and Glu298Asp (G894T) polymorphisms in the NOS3 gene were significantly associated with risk of ONFH. Additionally, we calculated haplotype frequencies of a linkage disequilibrium (LD) block in NOS3 (rs1799983 − rs1800780) and tested for haplotype associations. The haplotypes G-A and T-A showed significant protective (P = 1.6 × 10-3; OR 0.39, 95 % confidence intervals (CI) 0.22–0.7) and increased risk (P = 2.0 x 10-5–6.0 x 10-4; OR 3.17−3.73) effects for ONFH, respectively.

Conclusions

These results suggest that exonic NOS3 polymorphisms may increase the risk of ONFH in Korean SLE patients
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Metadata
Title
Endothelial nitric oxide synthase gene polymorphisms and the risk of osteonecrosis of the femoral head in systemic lupus erythematosus
Authors
Hak Soo Kim
Sang-Cheol Bae
Tae-Ho Kim
Shin-Yoon Kim
Publication date
01-11-2013
Publisher
Springer Berlin Heidelberg
Published in
International Orthopaedics / Issue 11/2013
Print ISSN: 0341-2695
Electronic ISSN: 1432-5195
DOI
https://doi.org/10.1007/s00264-013-1966-6

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