rs1516338
This is a upstream gene variant variant in the CHL1 gene.
▶Research that mentions this SNP (1)
▶Neuroplasticity and second messenger pathways in antidepressant efficacy: pharmacogenetic results from a prospective trial investigating treatment resistanceAssociationN=2,066Chiara Fabbri et al.(2017)· European Archives of Psychiatry and Clinical Neuroscience
A prospective pharmacogenetic study of 220 treatment-resistant depression (TRD) patients examined 50 tag SNPs in 14 neuroplasticity and second messenger pathway genes for association with antidepressant response. Key findings included replication of ZNF804A rs7603001 with venlafaxine response (OR=2.51), CREB1 rs2254137 with remission, CHL1 rs2133402 with lower TRD risk, and MAPK1 rs6928 with all phenotypes (p=0.0006 after Bonferroni). Pathway analysis in STAR*D (n=1846) identified protein processing in the endoplasmic reticulum pathway as a potential mechanism of MAPK1 involvement.
About CHL1
The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011]
View all CHL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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