La gota asociada a reducción de la excreción renal de ácido úrico. Esa tubulopatía que no tratamos los nefrólogos

García‐Nieto, Victor; Claverie-Martı́n, Félix; Moraleda-Mesa, Teresa; Perdomo‐Ramirez, Ana; Tejera-Carreño, Patricia; Córdoba-Lanús, Elizabeth; Yanes, María I. Luis; Ramos-Trujillo, Elena; RenalTube, en representación del Grupo

doi:10.1016/j.nefro.2021.03.013

Cited by 5 publications

(2 citation statements)

References 42 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The proximal tubule excretes most uric acid, and when specific lesions occur there, dysfunction leads to low uric acid excretion, which is often associated with genetic variants of specific uric acid transport proteins. Pleiotropy in genetic variation can underlie the regulation of renal function, hyperuricemia, and gout ( García-Nieto et al, 2022 ). For example, Mendelian randomization analysis can be used to analyze causality in confounding situations.…”

Section: Association Between Uric Acid Transporter-related Gene Varia...mentioning

confidence: 99%

“…FAM35A encodes a DNA repair protein expressed mainly in the distal tubules of the kidney and has not been directly linked to uric acid metabolism in functional assays. Therefore, there might be other indirect mechanisms and the potential involvement of kidney function in the regulation of uric acid excretion ( Nakayama et al, 2017 ; García-Nieto et al, 2022 ).…”

Section: Association Between Uric Acid Transporter-related Gene Varia...mentioning

confidence: 99%

See 1 more Smart Citation

Trends in the Contribution of Genetic Susceptibility Loci to Hyperuricemia and Gout and Associated Novel Mechanisms

Zhao

Guo

Schrodi

et al. 2022

Front. Cell Dev. Biol.

View full text Add to dashboard Cite

Hyperuricemia and gout are complex diseases mediated by genetic, epigenetic, and environmental exposure interactions. The incidence and medical burden of gout, an inflammatory arthritis caused by hyperuricemia, increase every year, significantly increasing the disease burden. Genetic factors play an essential role in the development of hyperuricemia and gout. Currently, the search on disease-associated genetic variants through large-scale genome-wide scans has primarily improved our understanding of this disease. However, most genome-wide association studies (GWASs) still focus on the basic level, whereas the biological mechanisms underlying the association between genetic variants and the disease are still far from well understood. Therefore, we summarized the latest hyperuricemia- and gout-associated genetic loci identified in the Global Biobank Meta-analysis Initiative (GBMI) and elucidated the comprehensive potential molecular mechanisms underlying the effects of these gene variants in hyperuricemia and gout based on genetic perspectives, in terms of mechanisms affecting uric acid excretion and reabsorption, lipid metabolism, glucose metabolism, and nod-like receptor pyrin domain 3 (NLRP3) inflammasome and inflammatory pathways. Finally, we summarized the potential effect of genetic variants on disease prognosis and drug efficacy. In conclusion, we expect that this summary will increase our understanding of the pathogenesis of hyperuricemia and gout, provide a theoretical basis for the innovative development of new clinical treatment options, and enhance the capabilities of precision medicine for hyperuricemia and gout treatment.

show abstract

Section: Association Between Uric Acid Transporter-related Gene Varia...mentioning

confidence: 99%

Section: Association Between Uric Acid Transporter-related Gene Varia...mentioning

confidence: 99%

Trends in the Contribution of Genetic Susceptibility Loci to Hyperuricemia and Gout and Associated Novel Mechanisms

Zhao

Guo

Schrodi

et al. 2022

Front. Cell Dev. Biol.

View full text Add to dashboard Cite

show abstract

Phytochemical profiling, in vitro and in vivo xanthine oxidase inhibition and antihyperuricemic activity of Christia vespertilionis leaf

Endrini

Bakar

et al. 2023

Biocatalysis and Agricultural Biotechnology

View full text Add to dashboard Cite

Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan

Chen,

Chiang,

Chang

et al. 2024

Nat Commun

View full text Add to dashboard Cite

Current genome-wide association studies (GWAS) for kidney function lack ancestral diversity, limiting the applicability to broader populations. The East-Asian population is especially under-represented, despite having the highest global burden of end-stage kidney disease. We conducted a meta-analysis of multiple GWASs ( n = 244,952) on estimated glomerular filtration rate and a replication dataset ( n = 27,058) from Taiwan and Japan. This study identified 111 lead SNPs in 97 genomic risk loci. Functional enrichment analyses revealed that variants associated with F12 gene and a missense mutation in ABCG2 may contribute to chronic kidney disease (CKD) through influencing inflammation, coagulation, and urate metabolism pathways. In independent cohorts from Taiwan ( n = 25,345) and the United Kingdom ( n = 260,245), polygenic risk scores (PRSs) for CKD significantly stratified the risk of CKD ( p < 0.0001). Further research is required to evaluate the clinical effectiveness of PRS CKD in the early prevention of kidney disease.

show abstract

La gota asociada a reducción de la excreción renal de ácido úrico. Esa tubulopatía que no tratamos los nefrólogos

Cited by 5 publications

References 42 publications

Trends in the Contribution of Genetic Susceptibility Loci to Hyperuricemia and Gout and Associated Novel Mechanisms

Trends in the Contribution of Genetic Susceptibility Loci to Hyperuricemia and Gout and Associated Novel Mechanisms

Phytochemical profiling, in vitro and in vivo xanthine oxidase inhibition and antihyperuricemic activity of Christia vespertilionis leaf

Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan

Contact Info

Product

Resources

About