Lack of association of the TP53 Arg72Pro SNP and the MDM2 SNP309 with systemic lupus erythematosus in Caucasian, African American, and Asian children and adults.
Lack of association of the TP53 Arg72Pro SNP and the MDM2 SNP309 with systemic lupus erythematosus in Caucasian, African American, and Asian children and adults.
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DOI：
10.1177/0961203308094558
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发表时间：
2009-01
期刊：
影响因子：
2.6
通讯作者：
Onel K
中科院分区：
文献类型：
--
作者：
Onel KB;Huo D;Hastings D;Fryer-Biggs J;Crow MK;Onel K
P53抑癌基因是细胞凋亡的中心调节因子。此前，功能性TP53 Arg72Pro多态性在韩国人中被发现与系统性红斑狼疮(SLE)相关，但在西班牙人中没有。MDM2是P53的主要负调控因子。MDM2内含子多态SNP309可减弱P53活性，并与绝经前妇女肿瘤的加速发展有关。MDM2基因的多态变异在系统性红斑狼疮中从未被研究过。这项研究的目的是通过测试TP53 Arg72Pro多态和MDM2 SNP309与SLE的相关性，进一步评估P53途径基因变异对SLE的贡献。在欧洲血统、亚洲血统或非裔美国人中，未发现TP53 Arg72Pro多态与SLE之间存在关联，在欧洲血统或非裔美国人中也未发现MDM2 SNP309与SLE之间存在关联。此外，变异和早发性疾病或肾炎之间都没有相关性，肾炎是严重疾病的一个指标。结论：TP53 Arg72Pro多态和MDM2 SNP309与SLE的易感性和疾病严重程度无关。
The p53 tumour suppressor is the central regulator of apoptosis. Previously, the functional TP53 Arg72Pro polymorphism was found to be associated with systemic lupus erythematosus (SLE) in Koreans but not Spaniards. MDM2 is the major negative regulator of p53. An intronic polymorphism in MDM2, the SNP309, attenuates p53 activity and is associated with accelerated tumour development in premenopausal women. Polymorphic variation in MDM2 has never been studied in SLE. The aim of this study is to further assess the contribution of p53-pathway genetic variation to SLE by testing the association of the TP53 Arg72Pro polymorphism and the MDM2 SNP309 with SLE in a well-characterised and ethnically diverse cohort of patients with both childhood- and adult-onset SLE (n = 314). No association was found between the TP53 Arg72Pro polymorphism and SLE in patients of European descent, Asian descent or in African Americans, nor was an association found between the MDM2 SNP309 and SLE in patients of European descent or in African Americans. In addition, there was no correlation between either variant and early-onset disease or nephritis, an index of severe disease. It is concluded that neither the TP53 Arg72Pro polymorphism nor the MDM2 SNP309 contributes significantly to either susceptibility or disease severity in SLE.
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