中国人群中 LMX1B 和 MLXIP 的遗传多态性与髋关节骨关节炎有关。

IF 1.9 4区医学 Q3 MEDICINE, RESEARCH & EXPERIMENTAL

Biomarkers in medicine Pub Date : 2024-09-12 DOI:10.1080/17520363.2024.2389030

Chuan Chen,Desheng Kong,Pin Wang,Ming Li,Ranran Gui

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引用次数: 0

摘要

目的：英国生物库数据的一项大型全基因组分析报告了15个与髋关节骨关节炎（HOA）易感性相关的新位点。我们的目的是在中国人群中复制这些位点与髋关节炎的相关性：方法：在 892 名髋关节炎患者和 1123 名健康对照者中对 13 个单核苷酸多态性位点进行了基因分型：结果：患者中rs62578127和rs11059094的风险等位基因频率明显高于对照组。在 HOA 组织中，LMX1B（p = 0.01）和 MLXIP（p = 0.001）的 mRNA 表达量明显增加：我们成功地复制了 HOA 的两个新的易感基因位点，并进一步鉴定了两个潜在的致病基因。

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Genetic polymorphisms of LMX1B and MLXIP are associated with hip osteoarthritis in the Chinese population.

Aims: A large genome-wide analyses of UK Biobank data reported 15 novel loci associated with the susceptibility of hip osteoarthritis (HOA). We aimed to replicate the association of these loci with HOA in the Chinese population.Methods: A total of 13 Single Nucleotide Polymorphisms were genotyped in 892 HOA patients and 1123 healthy controls.Results: The risk allele frequency of rs62578127 and rs11059094 was significantly higher in the patients than in the controls. The mRNA expression of LMX1B (p = 0.01) and MLXIP (p = 0.001) were significantly increased in HOA tissues.Conclusion: We successfully replicated two novel susceptible loci of HOA and further characterized two potential causative genes.

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来源期刊

Biomarkers in medicine 医学-医学：研究与实验

CiteScore

3.80

自引率

4.50%

发文量

审稿时长

6-12 weeks

期刊介绍： Biomarkers are physical, functional or biochemical indicators of physiological or disease processes. These key indicators can provide vital information in determining disease prognosis, in predicting of response to therapies, adverse events and drug interactions, and in establishing baseline risk. The explosion of interest in biomarker research is driving the development of new predictive, diagnostic and prognostic products in modern medical practice, and biomarkers are also playing an increasingly important role in the discovery and development of new drugs. For the full utility of biomarkers to be realized, we require greater understanding of disease mechanisms, and the interplay between disease mechanisms, therapeutic interventions and the proposed biomarkers. However, in attempting to evaluate the pros and cons of biomarkers systematically, we are moving into new, challenging territory. Biomarkers in Medicine (ISSN 1752-0363) is a peer-reviewed, rapid publication journal delivering commentary and analysis on the advances in our understanding of biomarkers and their potential and actual applications in medicine. The journal facilitates translation of our research knowledge into the clinic to increase the effectiveness of medical practice. As the scientific rationale and regulatory acceptance for biomarkers in medicine and in drug development become more fully established, Biomarkers in Medicine provides the platform for all players in this increasingly vital area to communicate and debate all issues relating to the potential utility and applications. Each issue includes a diversity of content to provide rounded coverage for the research professional. Articles include Guest Editorials, Interviews, Reviews, Research Articles, Perspectives, Priority Paper Evaluations, Special Reports, Case Reports, Conference Reports and Company Profiles. Review coverage is divided into themed sections according to area of therapeutic utility with some issues including themed sections on an area of topical interest. Biomarkers in Medicine provides a platform for commentary and debate for all professionals with an interest in the identification of biomarkers, elucidation of their role and formalization and approval of their application in modern medicine. The audience for Biomarkers in Medicine includes academic and industrial researchers, clinicians, pathologists, clinical chemists and regulatory professionals.