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Article
Cell Biology
Xiangchen Gu et al.
Summary: The study identified a potential correlation between low expression of MANBA in the kidneys of individuals with CKD risk genotype and an increased incidence of renal failure in individuals with rare loss-of-function coding variants in MANBA. The findings highlight the importance of the MANBA gene in kidney health, as it is highly expressed in human kidney tubule cells and appears to play a role in kidney disease development.
SCIENCE TRANSLATIONAL MEDICINE
(2021)
Article
Genetics & Heredity
James M. Eales et al.
Summary: Analyzing genotype, gene expression, alternative splicing, and DNA methylation profiles of human kidney samples can provide insights into the effects of common variants influencing blood pressure. Mendelian randomization revealed the effects of blood pressure on renal outcomes.
Article
Urology & Nephrology
Zhi Yu et al.
Summary: This study developed a genome-wide polygenic risk score (PRS) for eGFR, which was found to be significantly associated with a spectrum of kidney diseases and influenced the plasma proteome, primarily mediated by eGFR.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Article
Genetics & Heredity
Xin Sheng et al.
Summary: This study generated cell-type-specific eQTL maps in the human kidney using over 600 microdissected kidney samples, highlighting the cell types influencing kidney function, hypertension, and other traits.
Review
Genetics & Heredity
Melina Claussnitzer et al.
Summary: Large-scale genetic association studies have identified thousands of genetic risk loci with sequence variations more common in patients with metabolic diseases. While the molecular and cellular mechanisms affected by these common genetic variations remain mostly unknown, new genome-wide data types and analytical methodologies are paving the way for systematic variant-to-function studies, improving mechanistic understanding of disease biology.
TRENDS IN GENETICS
(2021)
Article
Multidisciplinary Sciences
Yuting Guan et al.
Summary: Identification of kidney disease genes DPEP1 and CHMP1A was achieved through a triangulation approach involving kidney function GWAS, human kidney expression, and methylation quantitative trait loci. Functional studies in mice and cells confirmed the roles of these genes in kidney disease, particularly through their involvement in the ferroptosis pathway.
NATURE COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Kira J. Stanzick et al.
Summary: Identifying causal variants and genes for kidney function in genome-wide association studies remains challenging, but can be aided by larger sample sizes. Meta-analysis of GWAS for kidney function identified new loci and fine-mapped variants and genes, shedding light on the complex genetic architecture underlying kidney function. Fine-mapping also revealed specific associations with cystatin-based eGFR and blood urea nitrogen levels at multiple loci.
NATURE COMMUNICATIONS
(2021)
Article
Medicine, Research & Experimental
Tomohito Doke et al.
Summary: The study integrated various methods to identify Dachshund homolog 1 (DACH1) as a kidney disease risk gene, revealing its crucial role in regulating the development of renal fibrosis.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Health Care Sciences & Services
Ning Shang et al.
Summary: The study implemented a portable and scalable electronic CKD phenotype to aid in early disease recognition and large-scale observational and genetic studies. Through manual validation and case-control validation, the algorithm showed high accuracy and detected a significant number of undetected CKD cases.
NPJ DIGITAL MEDICINE
(2021)
Review
Urology & Nephrology
Katie Marie Sullivan et al.
NATURE REVIEWS NEPHROLOGY
(2020)
