ArticleHuman cell2014
Common variant of leucine-rich repeat-containing 16A (LRRC16A) gene is associated with gout susceptibility.
Article in Human cell, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
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Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- Both variants of A1CF and BAZ1B genes are associated with gout susceptibility: a replication study and meta-analysis in a Japanese population.Human cell · 2021Pooled it
- A common variant of LDL receptor related protein 2 (LRP2) gene is associated with gout susceptibility: a meta-analysis in a Japanese population.Human cell · 2020Pooled it
- The effects of URAT1/SLC22A12 nonfunctional variants, R90H and W258X, on serum uric acid levels and gout/hyperuricemia progression.Scientific reports · 2016Trial
- Proteomics of Plasma and Plasma-Treated Podocytes: Application to Focal and Segmental Glomerulosclerosis.International journal of molecular sciences · 2023Article
- Susceptibility genes of hyperuricemia and gout.Hereditas · 2022Review
- Genetic assessment of hyperuricemia and gout in Asian, Native Hawaiian, and Pacific Islander subgroups of pregnant women: biospecimens repository cross-sectional study.BMC rheumatology · 2022Article
- Increase of serum uric acid levels associated with APOE ε2 haplotype: a clinico-genetic investigation and in vivo approach.Human cell · 2021Article
- Novel Linkage Peaks Discovered for Diabetic Nephropathy in Individuals With Type 1 Diabetes.Diabetes · 2021Article
- Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese.BMC medical genetics · 2018Article
- Probable Potential Role of Urate Transporter Genes in the Development of Metabolic Disorders.Cureus · 2018Review
- Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout.The open rheumatology journal · 2018Review
- A common variant of MAF/c-MAF, transcriptional factor gene in the kidney, is associated with gout susceptibility.Human cell · 2018Article
- The structure of the human ABC transporter ABCG2 reveals a novel mechanism for drug extrusion.Scientific reports · 2017Article
- CARMIL family proteins as multidomain regulators of actin-based motility.Molecular biology of the cell · 2017Article
- Independent effects of ADH1B and ALDH2 common dysfunctional variants on gout risk.Scientific reports · 2017Article
- Multiple common and rare variants ofRMD open · 2017Article
- Assessment of genetic polymorphisms associated with hyperuricemia or gout in the Hmong.Personalized medicine · 2016Article
- Hyperuricemia in acute gastroenteritis is caused by decreased urate excretion via ABCG2.Scientific reports · 2016Article
- Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus.Scientific reports · 2016Article
- SHEsisPlus, a toolset for genetic studies on polyploid species.Scientific reports · 2016Article
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Authors and funding
24 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gout is a common disease resulting from hyperuricemia which causes acute arthritis. Recently, genome-wide association studies revealed an association between serum uric acid levels and a common variant of leucine-rich repeat-containing 16A (LRRC16A) gene. However, it remains to be clarified whether LRRC16A contributes to the susceptibility to gout. In this study, we investigated the relationship between rs742132 in LRRC16A and gout. A total of 545 Japanese male gout cases and 1,115 male individuals as a control group were genotyped. rs742132 A/A genotype significantly increased the risk of gout, conferring an odds ratio of 1.30 (95 % CI 1.05-1.60; p = 0.015). LRRC16A encodes a protein called capping protein ARP2/3 and myosin-I linker (CARMIL), which serves as an inhibitor of the actin capping protein (CP). CP is an essential element of the actin cytoskeleton, which binds to the barbed end of the actin filament and regulates its polymerization. In the apical membrane of proximal tubular cells in the human kidney, the urate-transporting multimolecular complex (urate transportsome) is proposed to consist of several urate transporters and scaffolding proteins, which interact with the actin cytoskeleton. Thus, if there is a CARMIL dysfunction and regulatory disability in actin polymerization, urate transportsome may be unable to operate appropriately. We have shown for the first time that CARMIL/LRRC16A was associated with gout, which could be due to urate transportsome failure.
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