ArticleMolecular genetics & genomic medicine2019
Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- Article
- Drug-Induced Hypouricemia.Drug safety · 2025Review
- Renal hypouricemia complicated with kidney stone: a case report.Frontiers in medicine · 2024Article
- Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.Molecular diagnosis & therapy · 2024Article
- Genetic Basis of the Epidemiological Features and Clinical Significance of Renal Hypouricemia.Biomedicines · 2022Review
- Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.Molecular genetics & genomic medicine · 2019Article
- Additive Association ofKidney diseases (Basel, Switzerland)Article
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo identify potential causative mutations in SLC2A9 and SLC22A12 that lead to hypouricemia or hyperuricemia (HUA).
methodsTargeted resequencing of whole exon regions of SLC2A9 and SLC22A12 was performed in three cohorts of 31 hypouricemia, 288 HUA and 280 normal controls.
resultsA total of 84 high-quality variants were identified in these three cohorts. Eighteen variants were nonsynonymous or in splicing region, and then included in the following association analysis. For common variants, no significant effects on hypouricemia or HUA were identified. For rare variants, six single nucleotide variations (SNVs) p.T21I and p.G13D in SLC2A9, p.W50fs, p.Q382L, p.V547L and p.E458K in SLC22A12, occurred in totally six hypouricemia subjects and were absent in HUA and normal controls. Allelic and genotypic frequency distributions of the six SNVs differed significantly between the hypouricemia and normal controls even after multiple testing correction, and p.G13D in SLC2A9 and p.V547L in SLC22A12 were newly reported. All these mutations had no significant effects on HUA susceptibility, while the gene-based analyses substantiated the significant results on hypouricemia.
conclusionOur study first presents a comprehensive mutation spectrum of hypouricemia in a large Chinese cohort.
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