血管紧张素转换酶基因插入/缺失多态性与青少年类风湿性关节炎相关。

Angiotensin converting enzyme gene insertion-deletion polymorphism is associated with juvenile rheumatoid arthritis.

作者信息

Alsaeid Khaled, Haider M Zafaryab, Ayoub Elia M

机构信息

Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat 13110, Kuwait.

出版信息

J Rheumatol. 2003 Dec;30(12):2705-9.

PMID:14719217

Abstract

OBJECTIVE

To investigate the incidence of angiotensin converting enzyme (ACE) gene insertion-deletion (I/D) polymorphism genotypes in children with juvenile rheumatoid arthritis (JRA), a heterogeneous chronic disease with autoimmune pathology. ACE gene I/D polymorphism influences the plasma and tissue levels of ACE and has an involvement in inflammatory mechanisms.

METHODS

The incidence of ACE gene I/D polymorphism genotypes was determined in 82 children with JRA from Kuwait and compared to that in 48 ethnically matched healthy controls using polymerase chain reaction.

RESULTS

A considerably higher incidence of II genotype was observed in the JRA patients compared to controls (p < 0.003). In contrast, no statistically significant difference was detected in the incidence of DD and ID genotypes in JRA patients and controls (p = 0.276 and 0.460, respectively). The incidence of ACE gene polymorphism genotypes was also studied in clinical subclasses of JRA patients and controls. There was no significant difference in the incidence of DD and ID genotypes in either of the 3 JRA subclasses (oligoarticular, polyarticular, and systemic) when compared to controls. However, the incidence of II genotype was found to be significantly higher in all the 3 JRA subclasses compared to controls. The strongest association between II genotype and JRA subclasses was detected in systemic JRA, followed by oligoarticular and polyarticular JRA. This was also reflected in a higher prevalence of I-allele in the systemic JRA cases (13/26, 50%) compared to the D-allele (11/26, 42%). In contrast, D-allele of the ACE gene was more prevalent in oligoarticular and polyarticular JRA cases, than the I-allele (61% and 58%, respectively).

CONCLUSION

Our data suggest a significant association of the I-allele of the ACE gene I/D polymorphism with the 3 clinical subclasses of JRA in children, and the highest association was observed in systemic JRA cases.

摘要

目的

研究血管紧张素转换酶（ACE）基因插入/缺失（I/D）多态性基因型在幼年类风湿关节炎（JRA）患儿中的发生率。JRA是一种具有自身免疫病理特征的异质性慢性疾病。ACE基因I/D多态性会影响ACE的血浆和组织水平，并参与炎症机制。

方法

采用聚合酶链反应测定了82例科威特JRA患儿的ACE基因I/D多态性基因型发生率，并与48例种族匹配的健康对照进行比较。

结果

与对照组相比，JRA患者中II基因型的发生率显著更高（p < 0.003）。相反，JRA患者和对照组中DD和ID基因型的发生率无统计学显著差异（分别为p = 0.276和0.460）。还对JRA患者和对照组的临床亚类中的ACE基因多态性基因型发生率进行了研究。与对照组相比，3个JRA亚类（少关节型、多关节型和全身型）中DD和ID基因型的发生率均无显著差异。然而，发现所有3个JRA亚类中II基因型的发生率均显著高于对照组。在全身型JRA中检测到II基因型与JRA亚类之间的关联最强，其次是少关节型和多关节型JRA。这也反映在全身型JRA病例中I等位基因的患病率（13/26，50%）高于D等位基因（11/26，42%）。相反，ACE基因的D等位基因在少关节型和多关节型JRA病例中比I等位基因更普遍（分别为61%和58%）。