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A common variant of MAF/c-MAF, transcriptional factor gene in the kidney, is associated with gout susceptibility

机译:MAF / C-MAF,肾脏转录因子基因的常见变体与痛风易感性有关

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Gout is a multifactorial disease characterized by acute inflammatory arthritis, and it is caused as a consequence of hyperuricemia. A recent meta-analysis of genome-wide association studies has newly identified the relationship between serum uric acid (SUA) levels and rs889472, a single nucleotide polymorphism of musculoaponeurotic fibrosarcoma oncogene (MAF/c-MAF). However, it remained unclear whether rs889472 is associated with gout susceptibility. In the present study, we investigate the association between c-MAF rs889472 and gout in Japanese male population. We genotyped 625 male patients who were clinically diagnosed as gout and 1221 male control subjects without hyperuricemia or a history of gout by TaqMan method. As a result, the major allele (C), which reportedly increases SUA levels, had a higher frequency in the gout cases (58.8%) than in the controls (55.0%). A logistic regression analysis showed a significant association between rs889472 and gout (p = 0.029, odds ratio = 1.17; 95% confidence interval 1.02-1.34). C-MAF is reported as a pivotal transcriptional factor in the development and differentiation of renal proximal tubular cells. Because urate is mainly regulated in renal proximal tubular cells, c-MAF may have an important role in urate regulation in the kidney and influence not only SUA but also gout susceptibility. Our finding shows that rs889472 of c-MAF is associated with gout susceptibility.
机译:痛风是一种急性炎症性关节炎,其特征的多因素疾病,是由于血尿血症的结果。最近的全基因组关联研究的荟萃分析已经新发现了血清尿酸(SUA)水平与RS889472之间的关系,肌肉蔗糖糖肉瘤瘤癌基因(MAF / C-MAF)的单一核苷酸多态性。但是,它仍然不清楚RS889472是否与痛风易感性相关。在本研究中,我们研究了日本男性群体C-MAF RS889472与痛风之间的关联。我们将625名男性患者进行临床诊断为GOUT和1221名男性对照受试者,没有高尿酸血症或Taqman方法的痛风历史。结果,据报道,苏安水平增加的主要等位基因(C)在痛风病例(58.8%)中具有比对照(55.0%)的频率更高。逻辑回归分析显示RS889472和痛风之间的显着关联(P = 0.029,差距= 1.17; 95%置信区间1.02-1.34)。 C-MAF被报告为肾近侧管状细胞的开发和分化中的枢转转录因子。由于尿酸盐主要受调节肾近端管状细胞,因此C-MAF可能在肾脏中的尿液调节中具有重要作用,而且不仅仅是SUA,而且影响痛苦易感性。我们的发现表明,C-MAF的RS889472与痛风易感性有关。

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