rs1462891
This is a intron variant variant in the NRG1 gene.
▶Research that mentions this SNP (1)
▶Gene expression profiling and association studies implicate the neuregulin signaling pathway in Behçet's disease susceptibilityAssociationN=1,815Joana M. Xavier et al.(2013)· Journal of Molecular Medicine
This study combined gene expression profiling, pathway analysis, and association studies to identify the neuregulin signaling pathway in Behçet's disease (BD) susceptibility. Using PBMCs from 15 BD patients and 14 controls, microarray analysis identified EREG, AREG, and NRG1 as significantly under-expressed. Association testing in 976 Iranian patients and 839 controls found novel associations with rs6845297 (OR=0.86, P=0.0251) near EREG and replicated three NRG1 associations: rs4489285 (OR=0.85, P=0.0201), rs383632 (OR=1.22, P=0.0278), and rs1462891 (OR=1.18, P=0.0392). Meta-analysis with Turkish and Japanese GWAS data confirmed the NRG1 associations. Epistatic interaction analysis using MDR revealed significant gene-gene interactions between EREG-AREG and NRG1 variants.
About NRG1
The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Apr 2016]
View all NRG1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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