Study of adiponectin gene (rs1501299) polymorphism and serum adiponectin level in patients with primary knee osteoarthritis.

IF 3.8 3区 医学 Q2 GENETICS & HEREDITY Human Genomics Pub Date : 2024-09-23 DOI:10.1186/s40246-024-00670-0
Rehab Elnemr, Mowaffak Moustafa Abd El Hamid, Raghda Saad Zaghloul Taleb, Naylan Fayez Wahba Khalil, Sherine Mahmoud El-Sherif
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Abstract

Background: We aimed to study, for the first time in the Egyptian population, the relationship between the serum adiponectin level in knee osteoarthritis (KOA) patients and its correlation with clinical, radiological, and ultrasonographic characteristics. Additionally, investigate the relationship between the adiponectin (ADIPOQ) gene rs1501299 (+ 276G/T) polymorphism and KOA susceptibility and severity.

Methods: This case-control study enrolled 40 patients with primary KOA and 40 matched controls. All patients underwent physical examination of the knee, pain assessment using the visual analogue scale (VAS), and functional evaluation by Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC). Severity of KOA was assessed by Kellgren Lawrence (KL) grading scale and ultrasonography grading systems. Serum adiponectin levels and adiponectin (ADIPOQ) gene single nucleotide polymorphism (SNP) (rs1501299) genotyping were done for all patients and controls.

Results: The study included 40 patients with primary symptomatic KOA and 40 controls with comparable age, sex, and body mass index. The genotype of the rs1501299 (+ 276G/T) polymorphism of the ADIPOQ gene was determined using TaqMan allelic discrimination. An enzyme-linked immunosorbent test was used to measure the level of serum adiponectin. The Western Ontario and McMaster Universities Osteoarthritis (WOMAC) score was used to assess functional capability, while the visual analogue scale was utilised to assess knee pain. Using the Kellgren-Lawrence (KL) grading method and global femoral cartilage (GFC) ultrasound grading, the severity of KOA was assessed. No significant differences between patients and controls as regards the genotype distributions and allele frequencies (p = 0.400, p = 0.507, respectively) of ADIPOQ gene rs1501299 (+ 276G/T) polymorphism. Furthermore, serum adiponectin level was significantly higher in the patients compared to healthy subjects (p < 0.001). Additionally, adiponectin level had a significant negative correlation with disease severity as evaluated by KL and GFC grading (r=-0.351, p = 0.027 and r=-0.397, p = 0.011, respectively).

Conclusions: The ADIPOQ gene rs1501299 (+ 276G/T) polymorphism was not associated with KOA severity or vulnerability. The level of adiponectin considerably reduced as the severity of KOA rose, indicating that adiponectin may have a preventive effect in KOA.

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原发性膝关节骨性关节炎患者脂肪连接蛋白基因(rs1501299)多态性与血清脂肪连接蛋白水平的研究
背景:我们旨在首次在埃及人群中研究膝关节骨性关节炎(KOA)患者血清脂肪连接蛋白水平及其与临床、放射学和超声波特征之间的关系。此外,还研究了脂肪连接蛋白(ADIPOQ)基因 rs1501299 (+ 276G/T)多态性与 KOA 易感性和严重程度之间的关系:这项病例对照研究共纳入 40 名原发性 KOA 患者和 40 名匹配对照者。所有患者均接受了膝关节体格检查、视觉模拟量表(VAS)疼痛评估以及西安大略和麦克马斯特大学骨关节炎指数(WOMAC)功能评估。KOA 的严重程度通过 Kellgren Lawrence(KL)分级表和超声波分级系统进行评估。对所有患者和对照组进行了血清脂肪连素水平和脂肪连素(ADIPOQ)基因单核苷酸多态性(SNP)(rs1501299)基因分型:研究对象包括 40 名有原发性症状的 KOA 患者和 40 名年龄、性别和体重指数相当的对照组。采用 TaqMan 等位基因辨别法测定 ADIPOQ 基因 rs1501299(+ 276G/T)多态性的基因型。使用酶联免疫吸附试验测量血清脂肪连素的水平。西安大略和麦克马斯特大学骨关节炎(WOMAC)评分用于评估功能能力,视觉模拟量表用于评估膝关节疼痛。采用凯尔格伦-劳伦斯(Kellgren-Lawrence,KL)分级法和全局股骨头软骨(GFC)超声分级法评估 KOA 的严重程度。ADIPOQ基因rs1501299(+ 276G/T)多态性的基因型分布和等位基因频率在患者和对照组之间无明显差异(分别为p = 0.400和p = 0.507)。此外,与健康受试者相比,患者的血清脂肪连蛋白水平明显更高(p 结论:ADIPOQ基因rs1501299(+ 276G/T)多态性与患者的血清脂肪连蛋白水平有关:ADIPOQ 基因 rs1501299 (+ 276G/T) 多态性与 KOA 的严重程度或易感性无关。随着 KOA 严重程度的增加,脂肪连通素的水平明显降低,这表明脂肪连通素可能对 KOA 有预防作用。
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来源期刊
Human Genomics
Human Genomics GENETICS & HEREDITY-
CiteScore
6.00
自引率
2.20%
发文量
55
审稿时长
11 weeks
期刊介绍: Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics. Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.
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