Guo Sijia, Zhang Jiping, Li Huiwu, Cheng Cheng-Kung, Zhang Jingwei
School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai 200030, China.
Engineering Research Center of Digital Medicine of the Ministry of Education, Shanghai Jiao Tong University, Shanghai 200030, China.
Bioengineering (Basel). 2024 Aug 7;11(8):797. doi: 10.3390/bioengineering11080797.
: Total joint arthroplasty (TJA) is an orthopedic procedure commonly used to treat damaged joints. Despite the efficacy of TJA, postoperative complications, including aseptic prosthesis loosening and infections, are common. Moreover, the effects of individual genetic susceptibility and modifiable risk factors on these complications are unclear. This study analyzed these effects to enhance patient prognosis and postoperative management. : We conducted an extensive genome-wide association study (GWAS) and Mendelian randomization (MR) study using UK Biobank data. The cohort included 2964 patients with mechanical complications post-TJA, 957 with periprosthetic joint infection (PJI), and a control group of 398,708 individuals. Genetic loci associated with postoperative complications were identified by a GWAS analysis, and the causal relationships of 11 modifiable risk factors with complications were assessed using MR. : The GWAS analysis identified nine loci associated with post-TJA complications. Two loci near the and genes were significantly linked to mechanical complications and PJI, respectively. The MR analysis demonstrated that body mass index was positively associated with the risk of mechanical complications (odds ratio [OR]: 1.42; < 0.001). Higher educational attainment was associated with a decreased risk of mechanical complications (OR: 0.55; < 0.001) and PJI (OR: 0.43; = 0.001). Type 2 diabetes was suggestively associated with mechanical complications (OR, 1.18, = 0.02), and hypertension was suggestively associated with PJI (OR, 1.41, = 0.008). Other lifestyle factors, including smoking and alcohol consumption, were not causally related to postoperative complications. : The genetic loci near and influenced the risk of post-TJA mechanical complications and infections, respectively. The effects of genetic and modifiable risk factors, including body mass index and educational attainment, underscore the need to perform personalized preoperative assessments and the postoperative management of surgical patients. These results indicate that integrating genetic screening and lifestyle interventions into patient care can improve the outcomes of TJA and patient quality of life.
全关节置换术（TJA）是一种常用于治疗受损关节的骨科手术。尽管TJA疗效显著，但术后并发症，包括无菌性假体松动和感染，却很常见。此外，个体遗传易感性和可改变的风险因素对这些并发症的影响尚不清楚。本研究分析了这些影响因素，以改善患者预后和术后管理。
我们使用英国生物银行的数据进行了一项广泛的全基因组关联研究（GWAS）和孟德尔随机化（MR）研究。该队列包括2964例TJA术后出现机械并发症的患者、957例假体周围关节感染（PJI）患者以及398,708名个体组成的对照组。通过GWAS分析确定与术后并发症相关的基因位点，并使用MR评估11个可改变的风险因素与并发症之间的因果关系。
GWAS分析确定了9个与TJA术后并发症相关的基因位点。靠近 和 基因的两个位点分别与机械并发症和PJI显著相关。MR分析表明，体重指数与机械并发症风险呈正相关（优势比[OR]：1.42； < 0.001）。受教育程度较高与机械并发症风险降低相关（OR：0.55； < 0.001）以及PJI风险降低相关（OR：0.43； = 0.001）。2型糖尿病与机械并发症存在潜在关联（OR，1.18， = 0.02），高血压与PJI存在潜在关联（OR，1.41， = 0.008）。其他生活方式因素，包括吸烟和饮酒，与术后并发症无因果关系。
靠近 和 的基因位点分别影响TJA术后机械并发症和感染的风险。包括体重指数和受教育程度在内的遗传和可改变风险因素的影响，突出了对手术患者进行个性化术前评估和术后管理的必要性。这些结果表明，将基因筛查和生活方式干预纳入患者护理可以改善TJA的治疗效果和患者生活质量。
