ArticleRheumatology (Oxford, England)2022
Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene.
Article in Rheumatology (Oxford, England), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 12 citations in OpenAlex.
- A case of renal hypouricemia type 1 associated with compound heterozygous URAT1/SLC22A12 variants A209V and F379L: clinical evidence for their pathogenic significance.CEN case reports · 2026Article
- Uric Acid and Chronic Kidney Disease.Kidney medicine · 2026Review
- Duloxetine-induced syndrome of inappropriate antidiuretic hormone secretion in a patient with neuropathic pain.Clinical case reports · 2024Article
- Biochemical characterization of renal hypouricemia-associated mutations in urate transporter genes using human cells.Human cell · 2024Article
- Dysuricemia.Biomedicines · 2023Review
- Susceptibility genes of hyperuricemia and gout.Hereditas · 2022Review
- Hypouricemia and Urate Transporters.Biomedicines · 2022Review
- Article
- Comparison of the Application Value for Diagnosis of Chronic Kidney Disease between Color Doppler Flow Quantification Technique and Computed Tomography.Contrast media & molecular imaging · 2022Article
- Identification of a dysfunctional exon-skipping splice variant inFrontiers in genetics · 2022Article
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19 authors at 4 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
objectivesUp to 0.3% of Japanese have hypouricaemia. Most cases appear to result from a hereditary disease, renal hypouricaemia (RHUC), which causes exercise-induced acute kidney injury and urolithiasis. However, to what extent RHUC accounts for hypouricaemia is not known. We therefore investigated its frequency and evaluated its risks by genotyping a general Japanese population.
methodsA cohort of 4993 Japanese was examined by genotyping the non-functional variants R90H (rs121907896) and W258X (rs121907892) of URAT1/SLC22A12, the two most common causative variants of RHUC in Japanese.
resultsParticipants' fractional excretion of uric acid and risk allele frequencies markedly increased at lower serum uric acid (SUA) levels. Ten participants (0.200%) had an SUA level ≤2.0 mg/dl and nine had R90H or W258X and were likely to have RHUC. Logistic regression analysis revealed these URAT1 variants to be significantly and independently associated with the risk of hypouricaemia and mild hypouricaemia (SUA ≤3.0 mg/dl) as well as sex, age and BMI, but these URAT1 variants were the only risks in the hypouricaemia population (SUA ≤2.0 mg/dl). W258X was only a risk in males with SUA ≤3.0 mg/dl.
conclusionOur study accurately reveals the prevalence of RHUC and provides genetic evidence for its definition (SUA ≤2.0 mg/dl). We also show that individuals with SUA ≤3.0 mg/dl, especially males, are prone to RHUC. Our findings will help to promote a better epidemiological understanding of RHUC as well as more accurate diagnosis, especially in males with mild hypouricaemia.
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