Orozco G, Sánchez E, Gómez L M, González-Gay M A, López-Nevot M A, Torres B, Ortego-Centeno N, Jiménez-Alonso J, de Ramón E, Sánchez Román J, Anaya J M, Sturfelt G, Gunnarsson I, Svennungsson E, Alarcón-Riquelme M, González-Escribano M F, Martín J
Instituto de Parasitología y Biomedicina, CSIC, Granada, Spain.
Ann Rheum Dis. 2006 Jun;65(6):791-5. doi: 10.1136/ard.2005.044891. Epub 2005 Oct 25.
Functional polymorphisms of the solute carrier family 22, member 4 (SLC22A4), runt related transcription factor 1 (RUNX1) and small ubiquitin-like modifier 4 (SUMO4) genes have been shown to be associated with several autoimmune diseases.
To test the possible role of these variants in susceptibility to or severity of systemic lupus erythematosus (SLE), on the basis that common genetic bases are shared by autoimmune disorders.
597 SLE patients and 987 healthy controls of white Spanish origin were studied. Two additional cohorts of 228 SLE patients from Sweden and 122 SLE patients from Colombia were included. A case-control association study was carried out with six single nucleotide polymorphisms (SNP) spanning the SLC22A4 gene, one SNP in RUNX1 gene, and one additional SNP in SUM04 gene.
No significant differences were observed between SLE patients and healthy controls when comparing the distribution of the genotypes or alleles of any of the SLC22A4, RUNX1, or SUMO4 polymorphisms tested. Significant differences were found in the distribution of the SUMO4 genotypes and alleles among SLE patients with and without nephritis, but after multiple testing correction, the significance of the association was lost. The association of SUMO4 with nephritis could not be verified in two independent SLE cohorts from Sweden and Colombia.
These results suggest that the SLC22A4, RUNX1, and SUMO4 polymorphisms analysed do not play a role in the susceptibility to or severity of SLE.
溶质载体家族22成员4（SLC22A4）、 runt相关转录因子1（RUNX1）和小泛素样修饰物4（SUMO4）基因的功能多态性已被证明与多种自身免疫性疾病相关。
鉴于自身免疫性疾病具有共同的遗传基础，检测这些基因变异在系统性红斑狼疮（SLE）易感性或严重程度中的可能作用。
对597例西班牙裔白人SLE患者和987例健康对照进行研究。另外纳入了来自瑞典的228例SLE患者和来自哥伦比亚的122例SLE患者这两个队列。对跨越SLC22A4基因的6个单核苷酸多态性（SNP）、RUNX1基因中的1个SNP以及SUMO4基因中的另1个SNP进行病例对照关联研究。
在比较所检测的SLC22A4、RUNX1或SUMO4多态性的基因型或等位基因分布时，SLE患者与健康对照之间未观察到显著差异。在有肾炎和无肾炎的SLE患者中，SUMO4基因型和等位基因分布存在显著差异，但经过多重检验校正后，该关联的显著性消失。SUMO4与肾炎的关联在来自瑞典和哥伦比亚的两个独立SLE队列中无法得到验证。
这些结果表明，所分析的SLC22A4、RUNX1和SUMO4多态性在SLE的易感性或严重程度中不起作用。
