Abstract

BackgroundPrimary Osteoarthritis (OA) of the knee is a multifactorial disease that has an important genetic component, and several genes have been associated with its development. The vitamin D receptor has a role in skeletal metabolism that suggests a relationship with OA. The aim of this study was to analyze the association of Vitamin D receptor gene (VDR) polymorphisms in Mexican Mestizo patients.MethodsA case-control study was conducted in which 107 cases with primary OA of the knee and 114 controls were included. Cases were patients > 40 years of age with a Body mass index (BMI) of ≤27 and a radiological score for OA of the knee of ≥2. Controls were subjects > 40 years of age with a radiological score of < 2. VDR polymorphisms rs1544410, rs7975232, and rs731236 were analyzed by means of restriction endonucleases, and logistic regression was developed to evaluate risk magnitude.ResultsA significantly increased risk was found of nearly two-fold for the allele T and TT genotypes of rs731236, independently of other well recognized risk factors.ConclusionsThe rs731236 polymorphism is associated with the risk of primary OA of the knee in Mexican Mestizo population.

Highlights

  • Primary Osteoarthritis (OA) of the knee is a multifactorial disease that has an important genetic component, and several genes have been associated with its development

  • The World Health Organization (WHO) estimates that approximately 10% of the world’s population aged ≥60 years have symptomatic OA and that it is the fourth leading cause of Years lived with disability (YLD) [1, 2]

  • Because genetic associations could vary among populations and because there are no association studies on Vitamin D receptor gene (VDR) and OA in Latin-American populations, our aim was to analyze the association of the three VDR polymorphisms in Mexican Mestizo patients

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Summary

Introduction

Primary Osteoarthritis (OA) of the knee is a multifactorial disease that has an important genetic component, and several genes have been associated with its development. The aim of this study was to analyze the association of Vitamin D receptor gene (VDR) polymorphisms in Mexican Mestizo patients. OA is a multifactorial disease in which genetics and environmental factors, such as aging, gender, obesity, significant trauma, occupation, and sports activities, among others, are strongly related with its development [4, 5]. It is classified as primary when no discernible cause is evident and secondary when a triggering factor is apparent. Genetic association studies have demonstrated that primary OA is associated with several genes related to different molecular pathways or classes of molecules such as inflammation, Extracellular matrix

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