Orozco Gisela, Sánchez Elena, González-Gay Miguel A, López-Nevot Miguel A, Torres Belén, Pascual-Salcedo Dora, Balsa Alejandro, Pablos Jose L, García Antonio, González-Escribano Maria Francisca, Martín Javier
Instituto de Parasitología y Biomedicina, Granada, Spain.
J Rheumatol. 2006 Jul;33(7):1235-9.
To replicate the association reported in Japanese individuals of functional SLC22A4 and RUNX1 polymorphisms with rheumatoid arthritis (RA), and to test the possible role in this trait of a functional variant of the SUMO4 gene that was shown to be associated with another related autoimmune disease, type 1 diabetes (T1D).
Our study population consisted of 886 patients with RA and 987 healthy controls. All subjects were of Spanish Caucasian origin. We conducted a case-control association study with 6 single-nucleotide polymorphisms (SNP) spanning the SLC22A4 gene. SNP mapping in the RUNX1 gene associated with RA in a Japanese population and a SUMO4 polymorphism associated with T1D were also studied.
No statistically significant differences between patients with RA and healthy controls were observed when comparing the distribution of the genotypes or alleles of any of the SLC22A4 polymorphisms tested. Similarly, no evidence of association between RA and the SLC22A4 haplotype previously reported to be associated in a Japanese population was found. With regard to the RUNX1 and SUMO4 SNP, we did not observe statistically significant differences in the distribution of genotypes or alleles between patients with RA and healthy controls.
These results suggest that the SLC22A4, RUNX1, and SUMO4 polymorphisms analyzed do not confer a relevant role in susceptibility to RA in the Spanish population.
在西班牙人群中复制日本人群中报道的功能性SLC22A4和RUNX1基因多态性与类风湿关节炎(RA)的关联,并检测SUMO4基因的一个功能性变体在该疾病中的可能作用,该变体已被证明与另一种相关的自身免疫性疾病1型糖尿病(T1D)有关。
我们的研究人群包括886例RA患者和987例健康对照。所有受试者均为西班牙白种人。我们对跨越SLC22A4基因的6个单核苷酸多态性(SNP)进行了病例对照关联研究。还研究了在日本人群中与RA相关的RUNX1基因中的SNP定位以及与T1D相关的SUMO4多态性。
比较所检测的任何SLC22A4多态性的基因型或等位基因分布时,RA患者与健康对照之间未观察到统计学上的显著差异。同样,未发现RA与先前报道在日本人群中相关的SLC22A4单倍型之间存在关联的证据。关于RUNX1和SUMO4 SNP,我们未观察到RA患者与健康对照之间在基因型或等位基因分布上的统计学显著差异。
这些结果表明,所分析的SLC22A4、RUNX1和SUMO4多态性在西班牙人群对RA的易感性中不发挥相关作用。