LOX 基因多态性与绝经后中国女性骨质疏松性椎体压缩性骨折相关。
LOX gene polymorphisms are associated with osteoporotic vertebral compression fracture in postmenopausal Chinese women.
机构信息
Department of Endocrinology, Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215004, China.
Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
出版信息
Gene. 2020 May 30;741:144543. doi: 10.1016/j.gene.2020.144543. Epub 2020 Mar 9.
INTRODUCTION
Collagen cross-linking, which is regulated by lysyl oxidase (LOX), plays critical roles in bone mechanical strength. LOX can influence bone remodeling by modulating osteoblast and osteoclast activity. This study aimed to explore the effect of LOX gene polymorphisms on osteoporotic fractures susceptibility in postmenopausal Chinese women.
METHODS
This was a prospective study of postmenopausal women who visited the outpatient and community clinics of the local Hospital. Five tagging single nucleotide polymorphisms (SNPs) in the LOX gene were determined. Bone mineral density (BMD) was measured at the lumbar spine, femoral neck, and hip using dual-energy X-ray absorptiometry. Fractures were confirmed by X-ray and divided into: vertebral compression fracture (OVCF) and non-OVCF (all other fractures).
RESULTS
This study included 602 patients with non-traumatic fractures and 1343 healthy volunteers. The rs1800449 was significantly associated with vertebral compression fracture (OVCF) after adjusting for age and BMI (P = 0.012). Compared with subjects with the GG genotype, the risk of having OVCF was 1.28 and 1.74, respectively for subjects with the GA and AA genotypes (P = 0.043 and P = 0.018). A recessive genetic model showed that carriers of the AA genotype had higher fracture risk compared to G carriers (GA and GG genotypes) (P = 0.015). The rs2288393 SNP exhibited marginally significant association with OVCF (P = 0.051). Haplotype analyses corroborated our single SNP results: both haplotype CGA and CCG contained rs10519694, rs2288393, and rs1800449, and were significant associated with OVCF (P = 0.048 and P = 0.032, respectively). On the other hand, we found no evidence of an association of LOX gene allelic variants with either BMD or non-OVCF (all P > 0.05).
CONCLUSION
The results suggest that genetic polymorphisms in LOX may contribute to susceptibility to OVCF in Chinese postmenopausal women.
简介
胶原交联受赖氨酰氧化酶（LOX）调节，在骨骼机械强度中发挥关键作用。LOX 可以通过调节成骨细胞和破骨细胞的活性来影响骨重塑。本研究旨在探讨 LOX 基因多态性对绝经后中国女性骨质疏松性骨折易感性的影响。
方法
这是一项对门诊和社区诊所就诊的绝经后女性进行的前瞻性研究。确定了 LOX 基因中的 5 个标签单核苷酸多态性（SNP）。使用双能 X 射线吸收法测量腰椎、股骨颈和髋部的骨密度（BMD）。骨折通过 X 射线确认，并分为：椎体压缩性骨折（OVCF）和非 OVCF（所有其他骨折）。
结果
本研究纳入了 602 例非创伤性骨折患者和 1343 名健康志愿者。在调整年龄和 BMI 后，rs1800449 与椎体压缩性骨折（OVCF）显著相关（P=0.012）。与 GG 基因型相比，GA 和 AA 基因型的 OVCF 风险分别为 1.28 和 1.74（P=0.043 和 P=0.018）。隐性遗传模型显示，与 G 携带者（GA 和 GG 基因型）相比，AA 基因型携带者的骨折风险更高（P=0.015）。rs2288393 单核苷酸多态性与 OVCF 呈边缘显著相关（P=0.051）。单体型分析证实了我们的单核苷酸多态性结果：单体型 CGA 和 CCG 均包含 rs10519694、rs2288393 和 rs1800449，与 OVCF 显著相关（P=0.048 和 P=0.032）。另一方面，我们没有发现 LOX 基因等位基因变异与 BMD 或非 OVCF 之间存在关联的证据（所有 P>0.05）。
结论
结果表明，LOX 基因多态性可能导致中国绝经后女性 OVCF 的易感性。
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