rs12075550
This is a downstream gene variant variant in the NSUN4 gene.
▶Research that mentions this SNP (2)
▶Risky alcohol consumption in young people is associated with the fatty acid amide hydrolase gene polymorphism C385A and affective rating of drug picturesAssociationN=260Kora-Mareen Bühler et al.(2014)· Molecular Genetics and Genomics
This candidate gene association study examined 10 SNPs in addiction-related genes (CNR1, FAAH, DRD2, ANKK1, COMT, OPRM1) in university students and identified the FAAH C385A (rs324420) CC genotype as significantly associated with risky alcohol consumption (p=0.006, OR=2.38). The finding was replicated in an independent sample of 83 participants. Additionally, affective ratings of drug-related pictures were positively correlated with alcohol, tobacco, and cannabis consumption.
▶The fatty acid amide hydrolase 385 A/A (P129T) variant: haplotype analysis of an ancient missense mutation and validation of risk for drug addictionAssociationN=1,034Jonathan M. Flanagan et al.(2006)· Human Genetics
This case-control association study examined the FAAH P129T (c.385 C>A) missense mutation in 249 drug-addicted subjects and 785 controls across three ethnic groups. The P129T homozygote genotype showed significant association with multiple drug addiction (P=0.05, OR=2.25 in the case-control study; P=0.00003, OR=3.20 when combined with prior data). Haplotype analysis identified a single ancestral origin and estimated the P129T mutation age at 114,425-177,525 years.
About NSUN4
Enables mRNA (cytidine-5-)-methyltransferase activity and rRNA (cytosine-C5-)-methyltransferase activity. Involved in mitochondrial RNA catabolic process; mitochondrial RNA modification; and rRNA methylation. Located in mitochondrial matrix. Part of mitochondrial large ribosomal subunit. [provided by Alliance of Genome Resources, Jul 2025]
View all NSUN4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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