A genetic association study between growth differentiation factor 5 (GDF 5) polymorphism and knee osteoarthritis in Thai population

Tulyapruek Tawonsawatruk,Thanyachai Sura,Wiwat Wajanavisit,Objoon Trachoo,Theeraroj Changthong,Sarinee Pingsuthiwong

doi:10.1186/1749-799x-6-47

Tulyapruek Tawonsawatruk, Thanyachai Sura + Show 4 more

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https://doi.org/10.1186/1749-799x-6-47

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Abstract

ObjectiveOsteoarthritis (OA) is a multi-factorial disease and genetic factor is one of the important etiologic risk factors. Various genetic polymorphisms have been elucidated that they might be associated with OA. Recently, several studies have shown an association between Growth Differentiation Factor 5(GDF5) polymorphism and knee OA. However, the role of genetic predisposing factor in each ethnic group cannot be replicated to all, with conflicting data in the literatures. Therefore, the aim of this study was to investigate the association between GDF5 polymorphism and knee OA in Thai population.Materials and MethodsOne hundred and ninety three patients aged 54-88 years who attended Ramathibodi Hospital were enrolled. Ninety cases with knee OA according to American College of Rheumatology criteria and one hundred and three cases in control group gave informed consent. Blood sample (5 ml) were collected for identification of GDF5 (rs143383) single nucleotide polymorphism by PCR/RFLP according to a standard protocol. This study protocol was approved by the Ethics Committee on human experimentation of Ramathibodi Hospital Faculty of Medicine, Mahidol University. Odds ratios (OR) and 95% confidence intervals were calculated for the risk of knee OA by genotype (TT, TC and CC) and allele (T/C) analyses.ResultsThe baseline characteristics between two groups including job, smoking and activity were not different, except age and BMI. The entire cases and controls were in Hardy-Weinberg equilibrium (p > 0.05). The OA knee group (n = 90) had genotypic figure which has shown by TT 42.2% (n = 38), TC 45.6% (n = 41) and CC 12% (n = 11), whereas the control group (n = 103) revealed TT 32% (n = 33), TC 45.6% (n = 47), and CC 22.3% (n = 23), respectively. Genotypic TT increased risk of knee OA as compared to CC [OR = 2.41 (P = 0.04, 95%CI = 1.02-5.67)]. In the allele analysis, the T allele was found to be significantly associated with knee OA [OR = 1.53 (P = 0.043, 95%CI = 1.01-2.30)].ConclusionThese data suggested that GDF5 polymorphism has an association with knee OA in Thai ethnic. This finding also supports the hypothesis that OA has an important genetic component in its etiology, and GDF5 protein might play important role in the pathophysiology of the disease.

Highlights

It is widely believed that osteoarthritis develops from an imbalance between anabolic and catabolic processes or homeostasis of cartilage metabolism [1,2]
The T allele was found to be significantly associated with knee OA [Odds ratios (OR) = 1.53 (P = 0.043, 95%CI = 1.01-2.30)]
These data suggested that GDF5 polymorphism has an association with knee OA in Thai ethnic

Summary

Introduction

It is widely believed that osteoarthritis develops from an imbalance between anabolic and catabolic processes or homeostasis of cartilage metabolism [1,2] The etiology of this disease is related to genetic association [3]. Growth Differentiation Factor 5 or GDF5 gene regulates the expression of the GDF5 protein which is closely related to BMP and is a member of TGF-beta superfamily [15]. It has a role in regulation of the chondrogenesis and the defect in this gene might be correlated to the abnormal joint development [15]. It has been shown that he polymorphism in GDF5 gene is related with low expression of the GDF5 protein in knee joint [17]

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