rs2244621
This is a regulatory region variant variant in the PLCB3 gene.
▶Research that mentions this SNP (1)
▶Brief Report: Enrichment of associations in genes with fibrosis, apoptosis, and innate immunity functions with cardiac manifestations of neonatal lupusAssociationN=3,467Paula S. Ramos et al.(2012)· Arthritis & Rheumatism
Pathway-based GWAS in 116 cardiac neonatal lupus children and 3,351 controls identified significant enrichment of genetic associations in genes related to fibrosis (P=2.27×10⁻⁹), apoptosis (P=7.67×10⁻⁷), and innate immunity (P=2.53×10⁻⁶). The strongest non-HLA associations were ST8SIA2 (rs1487982, OR=2.20), ITGA1 (rs2432143, OR=2.31), and CSMD1 (rs7002001, OR=2.41), implicating dysregulation of inflammatory and fibrotic pathways in cardiac manifestations of neonatal lupus.
About PLCB3
This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
View all PLCB3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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