遗传多态化与青少年特异性脊椎病风险之间的关联在案例对照研究中:系统性审查
Elizabeth Terhune1, Patricia Heyn1, Christi Piper1
1Department of Orthopedics, University of Colorado Denver-Anschutz Medical Campus, Aurora, Colorado, USA.
Journal of medical genetics
|September 11, 2023
概括
遗传因素影响青少年异常学脊椎病 (AIS) 风险,在LBX1和GPR126附近的特定SNP显示出有前途. 然而,研究中的少数民族多样性阻碍了这些研究结果的临床转化.
科学领域:
- 遗传学 是一个遗传学.
- 整形外科 整形外科 整形外科
- 脊柱疾病 脊柱疾病
背景情况:
- 青少年异形脊柱病 (AIS) 是一种常见的脊柱形,影响到2-3%的儿童.
- AIS具有重要的遗传成分,但遗传发现的临床应用是有限的.
- 美国AIS的经济负担很大,估计每年30亿美元.
研究的目的:
- 审查和综合与青少年异常学脊椎病相关的遗传发现.
- 评估遗传研究的现状,并确定临床转化障碍.
主要方法:
- 在主要数据库 (PubMed,Embase,Google Scholar,Ovid MEDLINE) 进行了系统的文献搜索.
- 包括的研究包括全基因组关联研究,整个外基因组测序和验证研究.
- 使用REDCap和Q-Genie进行了数据提取和质量评估.
主要成果:
- 分析了33项研究,包括超过3.5万例和6.7万例对照.
- 在LBX1和GPR126.6附近的SNP中确定了关键的遗传关联.
- 研究队伍主要是东亚或高加索血统,总体研究质量高.
结论:
- 特定的SNP,特别是靠近LBX1和GPR126的SNP,可能会影响AIS易感性.
- 当前遗传发现的可翻译性受到研究中不同族群代表性不足的限制.
- 未来的研究应该优先考虑队列多样性和严格的对照组评估,以促进理解和临床应用.
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