SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function
Journal of the American Society of Nephrology, ISSN: 1533-3450, Vol: 28, Issue: 3, Page: 981-994
2017
- 35Citations
- 136Captures
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Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
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Metrics Details
- Citations35
- Citation Indexes35
- CrossRef35
- Captures136
- Readers136
- 136
Article Description
Genome-wide association studies have identified .50 common variants associated with kidney function, but these variants do not fully explain the variation in EGFR. We performed a two-stage meta-Analysis of associations between genotypes from the Illumina exome array and EGFR on the basis of serum creatinine (EGFRcrea) among participants of European ancestry fromthe CKDGen Consortium(nStage1: 111,666; nStage2: 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with EGFRcrea (PPM1J, EDEM3, ACP1, SPEG, EYA4, CYP1A1, andATXN2L; PStage1,3.731027), of which most were common and annotated as nonsynonymous variants. Gene-based analysis identified associations of functional rare variants in three genes with EGFRcrea, including a novel association with the SOS Ras/Rho guanine nucleotide exchange factor 2 gene, SOS2 (P=5.431028 by sequence kernel association test). Experimental follow-up in zebrafish embryos revealed changes in glomerular gene expression and renal tubule morphology in the embryonic kidney of acp1-And sos2-knockdowns. These developmental abnormalities associated with altered blood clearance rate and heightened prevalence of edema. This study expands the number of loci associated with kidney function and identifies novel genes with potential roles in kidney formation.
Bibliographic Details
http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85021851118&origin=inward; http://dx.doi.org/10.1681/asn.2016020131; http://www.ncbi.nlm.nih.gov/pubmed/27920155; http://www.jasn.org/lookup/doi/10.1681/ASN.2016020131; https://syndication.highwire.org/content/doi/10.1681/ASN.2016020131; https://journals.lww.com/00001751-201703000-00029; https://dx.doi.org/10.1681/asn.2016020131; https://journals.lww.com/jasn/fulltext/2017/03000/sos2_and_acp1_loci_identified_through_large_scale.29.aspx
American Society of Nephrology (ASN)
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