Suppr超能文献

髋关节发育不良的遗传学——一项系统的文献综述。

Genetics of hip dysplasia - a systematic literature review.

作者信息

Jacobsen Kaya Kvarme, Laborie Lene Bjerke, Kristiansen Hege, Schäfer Annette, Gundersen Trude, Zayats Tetyana, Rosendahl Karen

机构信息

Department of Clinical Medicine, University of Bergen, Bergen, Norway.

Department of Orthopedic Surgery, District General Hospital of Førde, Førde, Norway.

出版信息

BMC Musculoskelet Disord. 2024 Oct 1;25(1):762. doi: 10.1186/s12891-024-07795-2.

Abstract

BACKGROUND

Developmental dysplasia of the hip (DDH) is a congenital condition affecting 2-3% of all newborns. DDH increases the risk of osteoarthritis and is the cause of 30% of all total hip arthroplasties in adults < 40 years of age. We aim to explore the genetic background of DDH in order to improve diagnosis and personalize treatment.

METHODS

We conducted a structured literature review using PRISMA guidelines searching the Medline, Embase and Cochrane databases. We included 31 case control studies examining single nucleotide polymorphisms (SNPs) in non-syndromic DDH.

RESULTS

A total of 73 papers were included for full text review, of which 31 were single nucleotide polymorphism (SNP) case/control association studies. The literature review revealed that the majority of published papers on the genetics of DDH were mostly underpowered for detection of any significant association. One large genome wide association study has been published (N = 9,915), establishing GDF5 as a plausible risk factor.

CONCLUSIONS

DDH is known to be congenital and heritable, with family occurrence of DDH already included as a risk factor in most screening programs. Despite this, high quality genetic research is scarce and no genetic risk factors have been soundly established, prompting the need for more research.

摘要

背景

发育性髋关节发育不良(DDH)是一种先天性疾病,影响2%至3%的新生儿。DDH会增加骨关节炎的风险,并且是40岁以下成年人全髋关节置换术30%的病因。我们旨在探索DDH的遗传背景,以改善诊断并实现个性化治疗。

方法

我们按照PRISMA指南进行了结构化文献综述,检索了Medline、Embase和Cochrane数据库。我们纳入了31项检查非综合征性DDH中单核苷酸多态性(SNP)的病例对照研究。

结果

总共纳入73篇论文进行全文审查,其中31篇是单核苷酸多态性(SNP)病例/对照关联研究。文献综述显示,大多数已发表的关于DDH遗传学的论文在检测任何显著关联方面大多缺乏足够的效力。一项大型全基因组关联研究已经发表(N = 9915),确定生长分化因子5(GDF5)为一个可能的风险因素。

结论

已知DDH是先天性且具有遗传性,大多数筛查项目已将DDH的家族发病情况列为风险因素。尽管如此,高质量的遗传研究仍然稀缺,尚未明确确立遗传风险因素,这促使需要开展更多研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/24b1/11445845/dac058b83108/12891_2024_7795_Fig1_HTML.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验