Abd Elazeem Mervat I, Abdelaleem Enas Abolkheir, Mohamed Rabab A
Department of Rheumatology and Rehabilitation, Beni-Suef University School of Medicine, Beni-Suef University Hospital, Beni-Suef, Egypt.
Department of Clinical and Chemical Pathology, Beni-Suef University School of Medicine, Beni-Suef University Hospital, Beni-Suef, Egypt.
Eur J Rheumatol. 2017 Jun;4(2):98-103. doi: 10.5152/eurjrheum.2017.160093. Epub 2017 Jun 1.
The growth and differentiation factor 5 (GDF5) gene is recognized for its role in the development, repair, and maintenance of cartilage and bone. The present case-control study was conducted to detect the genetic association between GDF5 (+104T/C) single-nucleotide polymorphism (SNP) and primary knee osteoarthritis (KOA), as well as the possible association of SNP with the severity of KOA.
The study included 50 patients with primary KOA and 50 healthy control subjects. The severity of the disease was assessed by using the Kellgren-Laurence (K-L) grading system and aided by the Western Ontario & McMaster Universities Osteoarthritis Index (WOMAC) score, visual analog scale (VAS) score, and tenderness score. The genetic association of the SNP with primary KOA was assessed by means of the TaqMan allelic discrimination technique.
The radiological assessment of patients according to the K-L grading system revealed a statistically significant association between the wild-type (TT) genotype and disease severity in both the right and left knees (p=0.049). The frequency distribution of patients with VAS score ≤6 was significantly higher in patients carrying the TT genotype (p=0.005) as compared to the CT and CC genotypes. The mean WOMAC score was significantly higher in patients carrying the TT genotype as compared to patients carrying the CC and CT genotypes (p=0.017). No statistically significant association was detected on comparing the frequency distribution of allele and genotype frequencies of the SNP in patients and healthy controls.
The results of the current study revealed a possible genetic association between GDF5 (+104T/C) SNP and the severity of KOA, which might be of benefit for the detection of patients with a high risk for disease progression. The present study did not detect an association between the SNP and development of KOA.
生长分化因子5（GDF5）基因因其在软骨和骨骼发育、修复及维持中的作用而被认知。本病例对照研究旨在检测GDF5（+104T/C）单核苷酸多态性（SNP）与原发性膝骨关节炎（KOA）之间的遗传关联，以及该SNP与KOA严重程度的可能关联。
本研究纳入50例原发性KOA患者和50例健康对照者。采用Kellgren-Laurence（K-L）分级系统评估疾病严重程度，并辅以西安大略和麦克马斯特大学骨关节炎指数（WOMAC）评分、视觉模拟量表（VAS）评分及压痛评分。通过TaqMan等位基因鉴别技术评估该SNP与原发性KOA的遗传关联。
根据K-L分级系统对患者进行的影像学评估显示，野生型（TT）基因型与左右膝疾病严重程度之间存在统计学显著关联（p = 0.049）。与CT和CC基因型相比，携带TT基因型的患者中VAS评分≤6的患者频率分布显著更高（p = 0.005）。与携带CC和CT基因型的患者相比，携带TT基因型的患者平均WOMAC评分显著更高（p = 0.017）。在比较患者和健康对照者中该SNP的等位基因频率和基因型频率的分布时，未检测到统计学显著关联。
本研究结果显示GDF5（+104T/C）SNP与KOA严重程度之间可能存在遗传关联，这可能有助于检测疾病进展高危患者。本研究未检测到该SNP与KOA发病之间的关联。
