Identification of Novel Genetic Risk Factors for Focal Segmental Glomerulosclerosis in Children: Results From the Chronic Kidney Disease in Children (CKiD) Cohort.

Axelle Durand,Cheryl A Winkler,Nicolas Vince,Venceslas Douillard,Estelle Geffard,Elizabeth Binns-Roemer,Derek K Ng,Pierre-Antoine Gourraud, Kimberley Reidy,Bradley Warady,Susan Furth,Jeffrey B Kopp,Frederick J Kaskel,Sophie Limou

American journal of kidney diseases : the official journal of the National Kidney Foundation（2023）

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摘要

Our genetic study has identified functionally relevant risk factors and the importance of immune regulation for pediatric primary FSGS, which contributes to a better description of its molecular pathophysiological mechanisms.

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ALMS1,APOL1 G1,African American,CCDC7,CDH12,DNAH6,FGFR4,GRB2,HLA,KCNK6,SCNN1G,children,chronic kidney disease (CKD),focal segmental glomerulosclerosis (FSGS),gene-set enrichment analysis,genetic risk marker,genome-wide association study (GWAS),pediatric,single-nucleotide variant (SNV)

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