A common variant of leucine-rich repeat-containing 16A (LRRC16A) gene is associated with gout susceptibility

• DOI: 10.1007/s13577-013-0081-8
• Publication Date: 2013-12-06T01:43:28Z
• Authors: Masayuki Sakiyama; Hirotaka Matsuo; Seiko Shimizu; Toshinori Chiba; Akiyoshi Nakayama; Yuzo Takada; Takahiro Nakamura; Tappei Takada; Emi Morita; Mariko Naito; Kenji Wakai; Hiroki Inoue; Seishiro Tatsukawa; Junki Sato; Kazumi Shimono; Toshiaki Makino; Takahiro Satoh; Hiroshi Suzuki; Yoshikatsu Kanai; Nobuyuki Hamajima; Yutaka Sakurai; Kimiyoshi Ichida; Toru Shimizu; Nariyoshi Shinomiya
• Keywords: Male; 0301 basic medicine; Genotype; Gout; Microfilament Proteins; Genetic Variation; Organic Anion Transporters; Actins; Polymerization; Uric Acid; 3. Good health; Actin Cytoskeleton; 03 medical and health sciences; Humans; Genetic Predisposition to Disease; Carrier Proteins; Rapid Communication

Gout is a common disease resulting from hyperuricemia which causes acute arthritis. Recently, genome-wide association studies revealed an between serum uric acid levels and variant of leucine-rich repeat-containing 16A (LRRC16A) gene. However, it remains to be clarified whether LRRC16A contributes the susceptibility gout. In this study, we investigated relationship rs742132 in A total 545 Japanese male gout cases 1,115 individuals as control group were genotyped. A/A genotype significantly increased risk gout, conferring odds ratio 1.30 (95 % CI 1.05–1.60; p = 0.015). encodes protein called capping ARP2/3 myosin-I linker (CARMIL), serves inhibitor actin (CP). CP essential element cytoskeleton, binds barbed end filament regulates its polymerization. apical membrane proximal tubular cells human kidney, urate-transporting multimolecular complex (urate transportsome) proposed consist several urate transporters scaffolding proteins, interact with cytoskeleton. Thus, if there CARMIL dysfunction regulatory disability polymerization, transportsome may unable operate appropriately. We have shown for first time that CARMIL/LRRC16A was associated could due failure.