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自噬基因单核苷酸多态性对髋部骨折患者功能状态的影响。

Influence of ATG SNPs on hip fracture patients' functional status.

作者信息

da Casa Carmen, Gutiérrez-Cerrajero Carlos, Pablos Carmen, Hierro-Estévez M Agustina, González-Ramírez Alfonso, Briz David, González-Sarmiento Rogelio, Blanco Juan F

机构信息

Universidad Pontificia de Salamanca, Salamanca, Spain.

Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, Spain.

出版信息

Sci Rep. 2025 Aug 1;15(1):28063. doi: 10.1038/s41598-025-13455-9.

Abstract

One of the key factors influencing the prognosis of older patients with hip fracture is their previous functional status. Autophagy has been related to bone disease and to osteoporosis onset. Some studies have analyzed the relationship of certain genetic determinants with the risk of suffering a fragility fracture but evidence is lacking regarding the influence of genetic factors on the functional status of hip fracture patients. We aimed to evaluate the relationship between autophagy genes single nucleotide polymorphisms and the functional status in older hip fracture patients. A prospective observational study was conducted at the Orthogeriatric Unit of the University Hospital of Salamanca including 84 patients aged over 80 years old who underwent surgical treatment for hip fracture. Sociodemographic variables were collected upon hospital admission. The following geriatric scores were analyzed: Barthel index, Katz index, Lawton Brody index and Physical Red Cross Scale, and cross-studied to the following Autophagy-related gene polymorphisms: ATG2B rs3759601, ATG16L1 rs2241880 and ATG10 rs1864183. ATG10 rs1864183 and ATG2B rs3759601 are significantly related to the functional status of older hip fracture patients. The GG genotype of ATG2B rs3759601 was associated with better functional status of older hip fracture patients, compared to patients presenting the C allele. The T allele of ATG10 rs1864183 would determine a better functional situation for older hip fracture patients. We found no statistical relationship of ATG16L1 rs2241880 on the functional status recorded. In conclusion, the autophagy process appears to be associated with the functional status of older hip fracture patients and consequently may play a role in their prognosis.

摘要

影响老年髋部骨折患者预后的关键因素之一是其先前的功能状态。自噬与骨疾病及骨质疏松症的发病有关。一些研究分析了某些基因决定因素与脆性骨折风险之间的关系,但关于基因因素对髋部骨折患者功能状态的影响仍缺乏证据。我们旨在评估自噬基因单核苷酸多态性与老年髋部骨折患者功能状态之间的关系。在萨拉曼卡大学医院的老年骨科病房进行了一项前瞻性观察研究,纳入了84名80岁以上接受髋部骨折手术治疗的患者。入院时收集社会人口统计学变量。分析了以下老年评分:巴氏指数、 Katz指数、Lawton Brody指数和红十字会身体量表,并与以下自噬相关基因多态性进行交叉研究:ATG2B rs3759601、ATG16L1 rs2241880和ATG10 rs1864183。ATG10 rs1864183和ATG2B rs3759601与老年髋部骨折患者的功能状态显著相关。与携带C等位基因的患者相比,ATG2B rs3759601的GG基因型与老年髋部骨折患者更好的功能状态相关。ATG10 rs1864183的T等位基因将决定老年髋部骨折患者有更好的功能状况。我们发现ATG16L1 rs2241880与记录的功能状态无统计学关系。总之,自噬过程似乎与老年髋部骨折患者的功能状态相关,因此可能在其预后中起作用。

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