SLC22A12 W258X frequency according to serum uric acid level among Japanese health checkup examinees.

No Association between Mthfr C677t and Serum Uric Acid Levels among Japanese with Abcg2 126qq and Slc22a12 258ww

Several genome-wide association studies (GWAS) have revealed that single nucleotide polymorphisms (SNPs) of ABCG2 and SLC22A12 were strongly associated with serum uric acid (SUA), but those of methylene tetrahydrofolate reductase (MTHFR) were not. However, there were several studies indicating the association with MTHFR C677T polymorphism. This study examined the association with the polymorphi...

Author's response to reviews Title: Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study for a Japanese general population Authors:

The effects of URAT1/SLC22A12 nonfunctional variants, R90H and W258X, on serum uric acid levels and gout/hyperuricemia progression.

Urate transporter 1 (URAT1/SLC22A12), a urate transporter gene, is a causative gene for renal hypouricemia type 1. Among several reported nonsynonymous URAT1 variants, R90H (rs121907896) and W258X (rs121907892) are frequent causative mutations for renal hypouricemia. However, no case-control study has evaluated the relationship between gout and these two variants. Additionally, the effect size ...

Acute renal failure with severe loin pain and patchy renal ischaemia after anaerobic exercise ( ALPE ) ( exercise - induced acute renal failure ) in a father and child with URAT

Sir, ALPE is defined as (i) acute renal dysfunction or failure due to (ii) anaerobic exercise, accompanied by (iii) loin pain and (iv) normal or only slight elevation of creatine phosphokinase or serum myoglobin [1,2]. It has been reported that 51% of ALPE cases involve patients with renal hypouricaemia [1]. After cloning of the SLC22A12 gene (URTA1: uric acid transporter 1) [3], seven renal hy...

ASSOCIATIONS BETWEEN BODY MASS INDEX AND SERUM URIC ACID LEVELS IN A JAPANESE POPULATION WERE SIGNIFICANTLY MODIFIED BY LRP2 rs2544390

The genome-wide association study identified associations between the LRP2 polymorphism rs2544390 and serum uric acid (SUA) levels in a Japanese population. Our previous study on the LRP2 rs2544390 polymorphism identified an interaction between SUA and alcohol consumption. Here, we investigated an interaction with body mass index (BMI) using the same dataset. Subjects were 3,742 health checkup ...