ArticleGenetics2020
Contribution of Rare Variants of the
Article in Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Large-scale cross-ancestry genome-wide meta-analysis of serum urate.Nature communications · 2024Pooled it
- Gene-environment interaction modifies the association between hyperinsulinemia and serum urate levels through SLC22A12.The Journal of clinical investigation · 2025Trial
- 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
- Preliminary analysis of lifestyle and genetic factors for hyperuricemia and gout prevalence in the Yunnan Miao population of China.Frontiers in genetics · 2026Article
- Molecular mechanism of drug inhibition of URAT1.Nature communications · 2025Article
- Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.Journal of diabetes investigation · 2025Article
- Plantaginis Semen Ameliorates Hyperuricemia Induced by Potassium Oxonate.International journal of molecular sciences · 2024Article
- Characterizations of microRNAs involved in the molecular mechanisms underlying the therapeutic effects of noni (Frontiers in nutrition · 2023Article
- Rare Genetic Variants Provide Protection for Obstructive Sleep Apnea.American journal of respiratory and critical care medicine · 2022Article
- Genotype Value Decomposition: Simple Methods for the Computation of Kernel Statistics.Advanced genetics (Hoboken, N.J.) · 2022Article
- Susceptibility genes of hyperuricemia and gout.Hereditas · 2022Review
- Hypouricemia and Urate Transporters.Biomedicines · 2022Review
- Uric acid extrarenal excretion: the gut microbiome as an evident yet understated factor in gout development.Rheumatology international · 2022Review
- Rare Variants in Inborn Errors of Immunity Genes Associated With Covid-19 Severity.Frontiers in cellular and infection microbiology · 2022Article
- Detection and Quantification of the Relationship between the Ratio of Triglycerides over High-Density Lipoprotein Cholesterol and the Level of Serum Uric Acid: One Cross-Sectional Study.International journal of endocrinology · 2022Article
- Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus.Journal of medical genetics · 2021Review
- Function of Uric Acid Transporters and Their Inhibitors in Hyperuricaemia.Frontiers in pharmacology · 2021Article
- 27-Hydroxycholesterol regulates human SLC22A12 gene expression through estrogen receptor action.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families.Rheumatology (Oxford, England) · 2020Article
- Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of theInternational journal of molecular sciences · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gout is a common arthritis caused by monosodium urate crystals. The heritability of serum urate levels is estimated to be 30-70%; however, common genetic variants account for only 7.9% of the variance in serum urate levels. This discrepancy is an example of "missing heritability." The "missing heritability" suggests that variants associated with uric acid levels are yet to be found. By using genomic sequences of the ToMMo cohort, we identified rare variants of the
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.