Association between the Sp1-binding-site polymorphism in the collagen type I alpha 1 (COLIA1) gene and bone phenotypes: the Dubbo Osteoporosis Epidemiology Study.

IF 2.4 3区医学 Q3 ENDOCRINOLOGY & METABOLISM

Journal of Bone and Mineral Metabolism Pub Date : 2024-11-06 DOI:10.1007/s00774-024-01558-8

Ngoc Huynh, Krisel De Dios, Thach S Tran, Jacqueline R Center, Tuan V Nguyen

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引用次数: 0

Abstract

Introduction: Polymorphisms within the collagen 1 alpha 1 gene (COLIA1) have been shown to be associated with bone mineral density (BMD). This study aimed to test the hypothesis that COLIA1 polymorphisms are associated with bone loss and fragility fractures.

Materials and methods: The study involved 809 postmenopausal women aged 60 years and above in the Dubbo Osteoporosis Epidemiology Study who had COLIA1 genotypes and at least two BMD measurements over a 30-year period. BMD at the lumbar spine (LSBMD) and femoral neck (FNBMD) was measured biennially by dual-energy X-ray absorptiometry (GE-Lunar Prodigy). Fragility fracture has been ascertained by X-ray reports between 1990 and 2020. The G-> T polymorphism at the Sp1-binding site in the COLIA1 gene (rs1800012) was determined by the PCR-based method, and coded as GG, GT, and TT.

Results: Women homozygous for the minor allele (TT) tended to have greater bone loss (-0.72%/year) than those with GT (-0.58%/year) or GG (-0.56%/year) though the difference did not achieve statistical significance (P = 0.84). Women of the TT genotype were associated with a two-fold greater risk of any fracture (adjusted hazard ratio: 2.21; 95%CI 1.42-3.46) and almost fourfold greater risk of hip fracture (3.78; 1.83-7.82) than those with either GG or GT genotype.

Conclusions: Polymorphisms at the Sp1 site in the COLIA1 gene are associated with fracture risk, independent of bone loss.

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I 型胶原蛋白 alpha 1 (COLIA1) 基因中 Sp1 结合位点多态性与骨表型之间的关系：杜伯骨质疏松症流行病学研究。

简介：胶原蛋白 1 alpha 1 基因（COLIA1）的多态性已被证明与骨矿物质密度（BMD）有关。本研究旨在验证 COLIA1 多态性与骨质流失和脆性骨折相关的假设：该研究涉及杜博骨质疏松症流行病学研究（Dubbo Osteoporosis Epidemiology Study）中的 809 名 60 岁及以上绝经后妇女，她们具有 COLIA1 基因型，并在 30 年内至少进行了两次 BMD 测量。腰椎（LSBMD）和股骨颈（FNBMD）的 BMD 每两年通过双能 X 射线吸收测量仪（GE-Lunar Prodigy）进行一次测量。脆性骨折是通过 1990 年至 2020 年期间的 X 光报告确定的。通过基于 PCR 的方法确定 COLIA1 基因 Sp1 结合位点的 G-> T 多态性（rs1800012），并将其编码为 GG、GT 和 TT：结果：与 GT（-0.58%/年）或 GG（-0.56%/年）相比，等位基因为小等位基因（TT）的女性骨质流失率（-0.72%/年）更高，但差异未达到统计学意义（P = 0.84）。与 GG 或 GT 基因型女性相比，TT 基因型女性发生任何骨折的风险高出 2 倍（调整后危险比：2.21；95%CI 1.42-3.46），发生髋部骨折的风险高出近 4 倍（3.78；1.83-7.82）：结论：COLIA1基因中Sp1位点的多态性与骨折风险有关，与骨质流失无关。

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来源期刊

Journal of Bone and Mineral Metabolism 医学-内分泌学与代谢

CiteScore

6.30

自引率

3.00%

发文量

审稿时长

6-12 weeks

期刊介绍： The Journal of Bone and Mineral Metabolism (JBMM) provides an international forum for researchers and clinicians to present and discuss topics relevant to bone, teeth, and mineral metabolism, as well as joint and musculoskeletal disorders. The journal welcomes the submission of manuscripts from any country. Membership in the society is not a prerequisite for submission. Acceptance is based on the originality, significance, and validity of the material presented. The journal is aimed at researchers and clinicians dedicated to improvements in research, development, and patient-care in the fields of bone and mineral metabolism.