TY - JOUR
T1 - A common variant of MAF/c-MAF, transcriptional factor gene in the kidney, is associated with gout susceptibility
AU - Higashino, Toshihide
AU - Matsuo, Hirotaka
AU - Okada, Yukinori
AU - Nakashima, Hiroshi
AU - Shimizu, Seiko
AU - Sakiyama, Masayuki
AU - Tadokoro, Shin
AU - Nakayama, Akiyoshi
AU - Kawaguchi, Makoto
AU - Komatsu, Mako
AU - Hishida, Asahi
AU - Nakatochi, Masahiro
AU - Ooyama, Hiroshi
AU - Imaki, Junko
AU - Shinomiya, Nariyoshi
N1 - Publisher Copyright:
© 2017, The Author(s).
PY - 2018/1/1
Y1 - 2018/1/1
N2 - 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.
AB - 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.
KW - Gouty arthritis
KW - Hyperuricemia
KW - MAF
KW - Single-nucleotide polymorphism (SNP)
KW - c-MAF
UR - http://www.scopus.com/inward/record.url?scp=85032345942&partnerID=8YFLogxK
U2 - 10.1007/s13577-017-0186-6
DO - 10.1007/s13577-017-0186-6
M3 - Article
C2 - 29080939
AN - SCOPUS:85032345942
SN - 0914-7470
VL - 31
SP - 10
EP - 13
JO - Human Cell
JF - Human Cell
IS - 1
ER -