Abstract

BackgroundOsteoarthritis is the most prevalent form of arthritis worldwide and is the major cause of pain and loss of function in elderly people. A signal of the fat mass and obesity-associated (FTO) gene had been reported in a genome-wide association study of osteoarthritis. The FTO polymorphism (rs8044769) might exert its effect on osteoarthritis through obesity, because it was reported as a body mass index-associated single-nucleotide polymorphism. And replication studies showed inconsistent results for this association. Our present study is to check the association of rs8044769 with osteoarthritis and body mass index in Chinese Han population.MethodsA case-control association study was conducted by using 890 osteoarthritis cases and 844 controls in Chinese Han population. rs8044769 was genotyped in all subjects. Allelic and genotypic frequencies were compared between osteoarthritis cases and control subjects. Associations between rs8044769 and body mass index, and body mass index and osteoarthritis were also assessed.ResultsNo significant difference was detected in genotype or allele distribution between osteoarthritis cases and controls (P > 0.05). Stratification by gender and body mass index revealed negative association between rs8044769 and osteoarthritis. We did not find any solid association between rs8044769 and higher body mass index. Meanwhile, we demonstrated that higher body mass index (body mass index ≥ 25) was associated with osteoarthritis.ConclusionOur present study suggested that rs8044769 was not associated with osteoarthritis susceptibility or higher body mass index, and higher body mass index was a risk factor for osteoarthritis in the Chinese Han population. We also proposed that stratification by clinical parameters was crucial to reduce false-positive result in OA association studies.

Highlights

  • Osteoarthritis is the most prevalent form of arthritis worldwide and is the major cause of pain and loss of function in elderly people

  • A genome-wide association study (GWAS) named arcOGEN study had found that a fat mass and obesity-associated (FTO) single-nucleotide polymorphism (SNP) rs8044769 was in the strongest association with female OA close to genome-wide significance (P = 6.85 × 10− 8)

  • The present study showed that the FTO polymorphism was not associated with OA susceptibility in the Chinese Han population

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Summary

Introduction

Osteoarthritis is the most prevalent form of arthritis worldwide and is the major cause of pain and loss of function in elderly people. The FTO polymorphism (rs8044769) might exert its effect on osteoarthritis through obesity, because it was reported as a body mass index-associated single-nucleotide polymorphism. Hip and knee OA are the main causes of pain, functional loss, and depressed quality of life in both developed and Obesity has been consistently associated with an augmented risk of OA, but its role in the progression of OA has not been well established. This significance was degenerative after BMI adjustment, hinting that this FTO polymorphism may exert its influence on OA through obesity [13, 14]. The association between FTO and OA remains debatable

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