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过氧化物酶体增殖物激活受体γ基因多态性与膝关节骨关节炎的关联

Association of polymorphisms in the peroxisome proliferator-activated receptor gamma gene and osteoarthritis of the knee.

作者信息

Cheng S, Afif H, Martel-Pelletier J, Benderdour M, Pelletier J-P, Hilal G, Haraoui P, Raynauld J-P, Choquette D, Fahmi H

机构信息

Osteoarthritis Research Unit, Centre Hospitalier de l'Université de Montréal, Québec, Canada.

出版信息

Ann Rheum Dis. 2006 Oct;65(10):1394-7. doi: 10.1136/ard.2006.051904.

Abstract

OBJECTIVES

To study the association between two common polymorphisms in the peroxisome proliferator-activated receptor gamma (PPARgamma) gene and susceptibility to, and severity of, osteoarthritis in a French-Canadian population.

METHODS

Genomic DNA was obtained from 172 patients with osteoarthritis and 210 ethnically matched healthy controls. Genotyping for the polymorphisms in the PPARgamma gene (Pro12Ala and C1431T) was carried out using polymerase chain reaction-restriction fragment length polymorphism. The standard Kellgren-Lawrence grading score and the French version of the Western Ontario and McMaster Universities Osteoarthritis Index were used to assess the radiological and functional severity of the disease. Estimated haplotypes were generated using the expectation maximisation algorithm. Genotype and allele frequencies were analysed using the chi2 test.

RESULTS

Genotype and allele frequencies for either polymorphism in the PPARgamma gene did not differ significantly between patients with osteoarthritis and controls. Moreover, no significant differences were observed after stratification of patients according to age at disease onset, radiological or functional severity. Similarly, haplotype analysis of both polymorphisms in the PPARgamma gene showed no association of any haplotype with susceptibility to, or severity of, osteoarthritis.

CONCLUSION

These findings suggest that the examined polymorphisms in the PPARgamma gene do not contribute to susceptibility to, or severity of, osteoarthritis in the French-Canadian population.

摘要

目的

研究过氧化物酶体增殖物激活受体γ(PPARγ)基因中的两种常见多态性与法裔加拿大人群骨关节炎易感性及严重程度之间的关联。

方法

从172例骨关节炎患者和210例种族匹配的健康对照者中获取基因组DNA。采用聚合酶链反应-限制性片段长度多态性方法对PPARγ基因中的多态性(Pro12Ala和C1431T)进行基因分型。使用标准的凯尔格伦-劳伦斯分级评分以及西安大略和麦克马斯特大学骨关节炎指数的法语版本来评估疾病的放射学和功能严重程度。使用期望最大化算法生成估计单倍型。采用卡方检验分析基因型和等位基因频率。

结果

PPARγ基因中任一多态性的基因型和等位基因频率在骨关节炎患者和对照者之间无显著差异。此外,根据发病年龄、放射学或功能严重程度对患者进行分层后,未观察到显著差异。同样,对PPARγ基因中两种多态性的单倍型分析表明,任何单倍型与骨关节炎的易感性或严重程度均无关联。

结论

这些发现表明,PPARγ基因中检测到的多态性对法裔加拿大人群骨关节炎的易感性或严重程度没有影响。

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SNPAnalyzer: a web-based integrated workbench for single-nucleotide polymorphism analysis.
Nucleic Acids Res. 2005 Jul 1;33(Web Server issue):W483-8. doi: 10.1093/nar/gki428.
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Risk factors for osteoarthritis: genetics.骨关节炎的风险因素:遗传学。
Osteoarthritis Cartilage. 2004;12 Suppl A:S39-44. doi: 10.1016/j.joca.2003.09.005.
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Radiological assessment of osteo-arthrosis.骨关节炎的放射学评估。
Ann Rheum Dis. 1957 Dec;16(4):494-502. doi: 10.1136/ard.16.4.494.

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