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胰高血糖素样肽-1受体基因多态性与中国绝经后女性骨质疏松易感性的关系。

Association between polymorphisms of glucagon-like peptide-1 receptor gene and susceptibility to osteoporosis in Chinese postmenopausal women.

作者信息

Bao Xiaoxue, Liu Chang, Liu Huiming, Wang Yan, Xue Peng, Li Yukun

机构信息

Department of Endocrinology, Hebei Medical University Third Hospital, Shijiazhuang, Hebei, China.

Key Orthopaedic Biomechanics Laboratory of Hebei Province, Orthopedic Research Institution of Hebei Province, Shijiazhuang, Hebei, China.

出版信息

J Orthop Surg Res. 2024 Dec 23;19(1):869. doi: 10.1186/s13018-024-05361-z.

Abstract

BACKGROUND

The influence of the glucagon-like peptide-1 receptor (GLP-1R) on bone metabolism is well-established. However, it has been observed that single nucleotide polymorphisms (SNPs) in the GLP-1R gene can partially affect its function. Therefore, this study aims to investigate the association between SNPs in the GLP-1R gene and postmenopausal osteoporosis (PMOP) within the Chinese Han population.

METHODS

This study employed a cross-sectional case-control design, recruiting a total of 152 participants, including 76 patients with osteoporosis (OP) (case group) and 76 healthy individuals (control group). Seven tag SNPs of GLP-1R were selected from the National Center of Biotechnology Information and Genome Variation Server. The association between GLP-1R polymorphisms and PMOP risk was assessed using different genetic models and haplotypes, while also exploring SNP-SNP and SNP-environment interactions.

RESULTS

Our results showed that minor alleles A at rs3765468, A at rs3765467 and G at rs4714210 showed significant associations with an increased risk of OP. Individuals with rs3765468 AG-AA genotype and rs3765467 AG-AA genotype exhibited a significantly higher risk of PMOP. Moreover, haplotype analysis revealed a significant association of the GACACA haplotype on PMOP risk (P = 0.033). Additionally, a multiplicative interaction was observed between rs3765468 and rs3765467 that was associated with an increased risk of PMOP (P = 0.012).

CONCLUSIONS

Specific SNPs in the GLP-1R gene were linked to an increased risk of PMOP. This study improves our understanding of the genetic basis of PMOP in this population and suggests that genetic screening can identify individuals at risk for developing PMOP, enabling early prevention.

摘要

背景

胰高血糖素样肽-1受体(GLP-1R)对骨代谢的影响已得到充分证实。然而,已有研究观察到GLP-1R基因中的单核苷酸多态性(SNP)可部分影响其功能。因此,本研究旨在探讨中国汉族人群中GLP-1R基因SNP与绝经后骨质疏松症(PMOP)之间的关联。

方法

本研究采用横断面病例对照设计,共招募152名参与者,包括76例骨质疏松症(OP)患者(病例组)和76名健康个体(对照组)。从美国国立生物技术信息中心和基因组变异服务器中选择了7个GLP-1R标签SNP。使用不同的遗传模型和单倍型评估GLP-1R多态性与PMOP风险之间的关联,同时还探讨了SNP-SNP和SNP-环境相互作用。

结果

我们的结果表明,rs3765468处的次要等位基因A、rs3765467处的A和rs4714210处的G与OP风险增加显著相关。rs3765468 AG-AA基因型和rs3765467 AG-AA基因型的个体患PMOP的风险显著更高。此外,单倍型分析显示GACACA单倍型与PMOP风险显著相关(P = 0.033)。此外,观察到rs3765468和rs3765467之间存在乘法相互作用,这与PMOP风险增加相关(P = 0.012)。

结论

GLP-1R基因中的特定SNP与PMOP风险增加有关。本研究增进了我们对该人群中PMOP遗传基础的理解,并表明基因筛查可以识别有患PMOP风险的个体,从而实现早期预防。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f21a/11667832/829cfc51e17c/13018_2024_5361_Fig1_HTML.jpg

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