rs6468119
This variant is located in the NRG1 gene.
▶Research that mentions this SNP (2)
▶Variation at NRG1 genotype related to modulation of small-world properties of the functional cortical networkAssociationN=144Alba Lubeiro et al.(2017)· European Archives of Psychiatry and Clinical Neuroscience
An imaging genetics study of 144 healthy Caucasian controls examining NRG1 genetic variation and brain network small-worldness properties measured via EEG during an auditory odd-ball task. Three NRG1 SNPs (rs6468119, rs6994992, rs7005606) were significantly associated with small-worldness modulation in different frequency bands (alpha, beta1, theta), with risk allele carriers showing larger modulation than non-carriers (p-values ranging from 0.019–0.048).
▶Biological Validation of Increased Schizophrenia Risk With NRG1, ERBB4, and AKT1 Epistasis via Functional Neuroimaging in Healthy ControlsAssociationN=2,889Kristin K. Nicodemus et al.(2010)· Archives of General Psychiatry
This study examined epistatic interactions between SNPs in NRG1 and genes in the NMDA-glutamate pathway (ERBB4, AKT1, DLG4, NOS1, NOS1AP) in schizophrenia using case-control and neuroimaging approaches. In two independent samples (US sibling study: 296 cases/365 controls; German sample: 905 cases/1323 controls), significant gene-gene interactions were identified, including rs4560751 × rs3802160 (OR=4.56, p=0.0002), NRG1 rs10503929 × ERBB4 rs1026882 (OR=2.25, p=0.035), and a three-way interaction in NRG1-ERBB4-AKT1. These interactions were biologically validated by showing that risk allele carriers had inefficient dorsolateral prefrontal cortex (DLPFC) activation during working memory fMRI tasks.
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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