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 pictures
AssociationN=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.

Traits studied:Affective rating of drug-related picturesAlcohol consumption (risky drinking)Cannabis consumptionTobacco consumption
The fatty acid amide hydrolase 385 A/A (P129T) variant: haplotype analysis of an ancient missense mutation and validation of risk for drug addiction
AssociationN=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.

Traits studied:alcohol addictioncocaine addictiondrug addictionecstasy addictionheroin addictionmethamphetamine addictionpolysubstance dependence

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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