A common variant of MAF/c-MAF, transcriptional factor gene in the kidney, is associated with gout susceptibility
Year: 2017
Type: article
Study design: Observational Study
Abstract: 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.
Source: Human Cell
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $2,490
Awards: Molecular genetic and epidemiological analyses for elucidating neuroprotective effect by urate against Parkinson's disease, Scientific Support Programs for Cancer Research Grant-in-Aid for Scientific Research on Innovative Areas, G232248983, G2628512519, Platform for Advanced Genome Science, Study on supports for molecular cohort studies, G3672464712, Development of new dual inhibitors for c-Met targeting both allosteric and catalytic sites, Practical application to preventive medicine by molecular epidemiological analyses on gout using international consortium framework from Japan, G4512404885, G5328517287, G53314759, Development of new small molecules for Met stimulator and building up foundations of medical application, G6430561316, G6488519364, Investigation of pathophysiology of gout by molecular genetic epidemiological analysis and application to genome-tailored medicine, G724245799, G7466298292, Platform of large scale and high quality genomics and bioinformatics: Towards the advancement of genome sciences in academia, Platform of Supporting Cohort Study and Biospecimen Analysis, Genetic and epidemiological analysis of noise-induced hearing loss (NIHL) towards its tailor-made medicine and prevention, G908791741
OpenAlex ID: W2766177569