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类风湿关节炎患者的基因标记物及其与疾病严重程度的相关性研究。

A Study of Genetic Markers in Patients of Rheumatoid Arthritis and their Co-Relation with Severity of the Disease.

作者信息

Ali Gauri Liyakat, Kapur Suman, Chinmayi Sai, Fatima Qadir, Pise Harshal, Khan Asim, Liyakat Ambreen, Jilova V, Dube Urvashi

机构信息

Additional Principal and Senior Professor, Department of Medicine, S.P. Medical College, Bikaner, Rajasthan.

Senior Professor.

出版信息

J Assoc Physicians India. 2017 Sep;65(9):32-36.

Abstract

INTRODUCTION

Dyslipidemia has been reported to attribute to early death due to increased atherosclerosis leading to CVDs in patients with RA. Recent reports have suggested a role of adipocytokines in mediating joint damage rheumatoid arthritis (RA). RA has long been associated with increased cardiovascular risk as atherosclerosis is more prevalent in patients of RA than in the general population. Specific alleles of APOE gene have been reported to be associated with risk for atherosclerosis and LEP gene alleles have been associated with increased BMI. We evaluated the association of polymorphisms in the APOE and the LEP gene, with risk for developing RA and severity of joint damage in patients with RA.

MATERIAL & METHODS: Peripheral blood samples from age and ethnicity matched healthy controls and RA patients, recruited for the study, were collected and used for DNA isolation and allele typing for D7S1875 (LEP gene) and APOE using PCR-LP/RFLP based method reported in literature4,5 followed by data analysis using Medcalc.

RESULTS AND CONCLUSIONS

Based on the findings of this study no correlation was seen between RA and LEP gene (D7S1875) allele/genotypes. It was seen that the APOE4 allele was more prevalent in controls than in cases indicating that this allele is probably playing a significant protective role (p=0.0002, OR=0.3336, CI:0.1856-0.5997) as opposed to the other two Apo E alleles. The Apo E3 allele was the most prevalent allele in both cases and controls which is similar to earlier reports from several different groups. No significant association was observed between the APOE genotype and the DAS28 score. Finally, it can be concluded that while the short allele of the D7S1875 (LEP gene) marker increases the risk for developing RA (OR=1.72, p=0.038) the APOE*4 allele seems to play a protective role in RA (OR=0.3336, p=0.0002).

摘要

引言

据报道,血脂异常会导致类风湿关节炎(RA)患者因动脉粥样硬化增加引发心血管疾病(CVDs)而早亡。最近的报告表明,脂肪细胞因子在介导类风湿关节炎(RA)的关节损伤中起作用。长期以来,RA与心血管风险增加有关,因为动脉粥样硬化在RA患者中比在普通人群中更普遍。据报道,载脂蛋白E(APOE)基因的特定等位基因与动脉粥样硬化风险相关,而瘦素(LEP)基因等位基因与体重指数(BMI)增加相关。我们评估了APOE和LEP基因多态性与RA发病风险及RA患者关节损伤严重程度之间的关联。

材料与方法

收集为该研究招募的年龄和种族匹配的健康对照者及RA患者的外周血样本,用于DNA分离,并使用文献4、5中报道的基于PCR-LP/RFLP的方法对D7S1875(LEP基因)和APOE进行等位基因分型,随后使用Medcalc进行数据分析。

结果与结论

基于本研究的结果,未发现RA与LEP基因(D7S1875)等位基因/基因型之间存在相关性。结果显示,APOE4等位基因在对照组中比在病例组中更普遍,这表明该等位基因可能发挥着重要的保护作用(p = 0.0002,OR = 0.3336,CI:0.1856 - 0.5997),与其他两个载脂蛋白E等位基因相反。Apo E3等位基因在病例组和对照组中都是最普遍的等位基因,这与几个不同研究小组的早期报告相似。未观察到APOE基因型与疾病活动评分28(DAS28)之间存在显著关联。最后,可以得出结论,虽然D7S1875(LEP基因)标记的短等位基因会增加患RA的风险(OR = 1.72,p = 0.038),但APOE*4等位基因似乎在RA中起保护作用(OR = 0.3336,p = 0.0002)。

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