ArticleJournal of the American Society of Nephrology : JASN2015
HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic Syndrome.
Article in Journal of the American Society of Nephrology : JASN, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers, 4 of them syntheses that pooled it.
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Who cites it
89 citing papers in PubMed, 4 syntheses or guidelines pooled it, 147 citations in OpenAlex.
- Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.Nature communications · 2023Pooled it
- Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Kidney international · 2022Guideline
- Estimation of childhood nephrotic syndrome incidence: data from the atlanta metropolitan statistical area and meta-analysis of worldwide cases.Journal of nephrology · 2022Pooled it
- Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.Journal of the American Society of Nephrology : JASN · 2018Pooled it
- Polygenic risk scores and HLA class II variants are biomarkers of corticosteroid response in childhood nephrotic syndrome.Kidney international · 2026Article
- Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2026Article
- Advances in SRNS Gene Research: From Precision Classification to Precision Diagnosis and Treatment.Biomedicines · 2026Review
- Lysine-specific histone demethylase 1a regulates nephron development and long-term transcriptional programming.JCI insight · 2026Article
- Aligning Practice With Guidelines: A Canadian National Survey and Canadian Society of Nephrology Commentary on the 2025 KDIGO Pediatric Nephrotic Syndrome Recommendations.Canadian journal of kidney health and disease · 2026Article
- Etiology of nephrotic syndrome: insights from univariate and multivariate Mendelian randomization study.Renal failure · 2025Article
- A CPEB2/ANGPTL3 feedback loop promotes the progression of podocyte injury in nephrotic syndrome.Scientific reports · 2025Article
- Polygenic Risk Scores and HLA Class II Variants are Biomarkers of Corticosteroid Response in Childhood Nephrotic Syndrome.medRxiv : the preprint server for health sciences · 2025Article
- Genetic aspects of pediatric nephrotic syndrome and anti-nephrin antibodies.Clinical and experimental nephrology · 2025Review
- Amino acid variants in the HLA-DQA1 and HLA-DQB1 molecules explain the major association of variants with relapse status in pediatric patients with steroid-sensitive nephrotic syndrome.Italian journal of pediatrics · 2025Article
- Overexpression of PLCG2 and TMEM38A inhibit tumor progression in clear cell renal cell carcinoma.Scientific reports · 2025Article
- Article
- Pediatric contributions and lessons learned from the NEPTUNE cohort study.Pediatric nephrology (Berlin, Germany) · 2024Review
- A genomic association study revealing subphenotypes of childhood steroid-sensitive nephrotic syndrome in a larger genomic sequencing cohort.Genes & diseases · 2024Article
- Scaffold protein SH3BP2 signalosome is pivotal for immune activation in nephrotic syndrome.JCI insight · 2024Article
- PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.The Journal of allergy and clinical immunology · 2024Article
29 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
36 authors at 20 institutions in 6 countries.
Funding
Abstract
Steroid-sensitive nephrotic syndrome (SSNS) accounts for >80% of cases of nephrotic syndrome in childhood. However, the etiology and pathogenesis of SSNS remain obscure. Hypothesizing that coding variation may underlie SSNS risk, we conducted an exome array association study of SSNS. We enrolled a discovery set of 363 persons (214 South Asian children with SSNS and 149 controls) and genotyped them using the Illumina HumanExome Beadchip. Four common single nucleotide polymorphisms (SNPs) in HLA-DQA1 and HLA-DQB1 (rs1129740, rs9273349, rs1071630, and rs1140343) were significantly associated with SSNS at or near the Bonferroni-adjusted P value for the number of single variants that were tested (odds ratio, 2.11; 95% confidence interval, 1.56 to 2.86; P=1.68×10(-6) (Fisher exact test). Two of these SNPs-the missense variants C34Y (rs1129740) and F41S (rs1071630) in HLA-DQA1-were replicated in an independent cohort of children of white European ancestry with SSNS (100 cases and ≤589 controls; P=1.42×10(-17)). In the rare variant gene set-based analysis, the best signal was found in PLCG2 (P=7.825×10(-5)). In conclusion, this exome array study identified HLA-DQA1 and PLCG2 missense coding variants as candidate loci for SSNS. The finding of a MHC class II locus underlying SSNS risk suggests a major role for immune response in the pathogenesis of SSNS.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.