High risk of lumbar spine osteoporosis with the RANK rs3018362 polymorphism

Abstract

Osteoporosis is characterized by reduced bone mineral density (BMD) and quality, increasing the risk of fractures. A large number of genes involved in bone metabolism have been implicated in the genesis of osteoporosis; these include RANK and RANKL. Polymorphisms of these genes have been implicated in osteoporosis. The aim of this study was to determine the association of the RANK rs3018362 and RANKL rs12585014 polymorphisms with risk of osteoporosis. Four hundred Mexican women aged 40 years old or above were genotyped by real-time PCR and several demographic and risk factors were explored. The GA and AA genotypes of the rs3018362 polymorphism were associated with a high risk of osteoporosis in the dominant model (p=.0062; OR = 2.16, 95% CI: 1.24–3.78). In summary, the rs3018362 polymorphism in the RANK gene seems to be associated with osteoporosis of the lumbar spine while the RANKL rs12585014 is not, although more studies are needed to confirm these results.

摘要

骨质疏松症的特征是骨矿物质密度（BMD）和质量降低, 增加了骨折的风险。 骨质疏松症的发生涉及大量与骨代谢有关的基因, 包括RANK和RANKL。 这些基因的多态性与骨质疏松症相关。这项研究的目的是确定RANK rs3018362和RANKL rs12585014多态性与骨质疏松症风险的关系。通过实时PCR对400名40岁及40岁以上的墨西哥妇女进行了基因分型, 并探究了一些人口统计学和危险因素。rs3018362基因多态性的GA和AA基因型与显性模型中的骨质疏松症高风险相关（p = .0062； OR = 2.16, 95％CI：1.24-3.78）。综上, 尽管需要更多的研究来证实这些结果, 但RANK基因中的rs3018362多态性似乎与腰椎骨质疏松症有关, 而RANKL rs12585014则无此种相关性。

The Chinese abstracts are translated by Prof. Dr. Xiangyan Ruan and her team: Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

Keywords:

• Osteoporosis
• RANK
• RANKL
• polymorphisms
• rs3018362
• rs12585014

Ethical approval

All procedures performed in this study involving human participants were in accordance with the ethical standards of the Institutional Research and Ethical Committee and with the 1964 Helsinki Declaration and its later amendments.

Informed consent

All the participants signed a written informed consent and the work was approved by the Ethics and Research Committee of the Instituto Nacional de Rehabilitación.

Disclosure statement

The authors declare that they have no conflict of interest.

Additional information

Funding

This work was supported by Consejo Nacional de Ciencia y Tecnología under Grant SALUD-2007-C01-69706.