Article
Integrative genome-wide analyses identify novel loci associated with kidney stones and provide insights into its genetic architecture.
Nature communications - 18 Nov 2023
Hao Xingjie, Shao Zhonghe, Zhang Ning, Jiang Minghui, Cao Xi, Li Si, Guan Yunlong, Wang Chaolong
Abstract excerpt
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...
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