rs10941934 - CDH12

Magnitude 4.5 · 1 study on file

Reported associations

  • Identification of Novel Genetic Risk Factors for Focal Segmental Glomerulosclerosis in Children: Results From the Chronic Kidney Disease in Children (CKiD) Cohort. - American journal of kidney diseases : the official journal of the National Kidney Foundation (2023) · Durand A, Winkler CA, Vince N, Douillard V, Geffard E, Binns-Roemer E, Ng DK, Gourraud PA, Reidy K, Warady B, Furth S, Kopp JB, Kaskel FJ, Limou S · PubMed 36623684

    Focal segmental glomerulosclerosis (FSGS) is a major cause of pediatric nephrotic syndrome, and African Americans exhibit an increased risk for developing FSGS compared with other populations. Predisposing genetic factors have previously been described in adults. Here we performed genomic screening of primary FSGS in a pediatric African American population. Prospective cohort with case-control genetic association study design. 140 African American children with chronic kidney disease from the Chronic Kidney Disease in Children (CKiD) cohort, including 32 cases with FSGS. Over 680,000 common single-nucleotide polymorphisms (SNPs) were tested for association. We also ran a pathway enrichment analysis and a human leucocyte antigen (HLA)-focused association study. Primary biopsy-proven pediatr


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • FSGS genetic predisposition risk discussion Moderate

    GWAS identified rs10941934-T as risk variant for FSGS, warranting baseline kidney assessment

    discuss kidney function baseline, family kidney disease history, and monitoring plan

Screening

  • kidney function and proteinuria assessment Moderate

    rs10941934-T allele shows significant association with primary focal segmental glomerulosclerosis

    annual serum creatinine, eGFR, and urinalysis