Integrative genome-wide analyses identify novel loci associated with kidney stones and provide insights into its genetic architecture

Xingjie Hao (), Zhonghe Shao, Ning Zhang, Minghui Jiang, Xi Cao, Si Li, Yunlong Guan and Chaolong Wang ()
Additional contact information
Xingjie Hao: Huazhong University of Science and Technology
Zhonghe Shao: Huazhong University of Science and Technology
Ning Zhang: Huazhong University of Science and Technology
Minghui Jiang: Huazhong University of Science and Technology
Xi Cao: Huazhong University of Science and Technology
Si Li: Huazhong University of Science and Technology
Yunlong Guan: Huazhong University of Science and Technology
Chaolong Wang: Huazhong University of Science and Technology

Nature Communications, 2023, vol. 14, issue 1, 1-12

Abstract: Abstract Kidney stone disease (KSD) is a complex disorder with high heritability and prevalence. We performed a large genome-wide association study (GWAS) meta-analysis for KSD to date, including 720,199 individuals with 17,969 cases in European population. We identified 44 susceptibility loci, including 28 novel loci. Cell type-specific analysis pinpointed the proximal tubule as the most relevant cells where susceptibility variants might act through a tissue-specific fashion. By integrating kidney-specific omics data, we prioritized 223 genes which strengthened the importance of ion homeostasis, including calcium and magnesium in stone formation, and suggested potential target drugs for the treatment. The genitourinary and digestive diseases showed stronger genetic correlations with KSD. In this study, we generate an atlas of candidate genes, tissue and cell types involved in the formation of KSD. In addition, we provide potential drug targets for KSD treatment and insights into shared regulation with other diseases.

Date: 2023
References: View references in EconPapers View complete reference list from CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/s41467-023-43400-1 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:14:y:2023:i:1:d:10.1038_s41467-023-43400-1

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/s41467-023-43400-1

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().