rs1245133 NCAM1 expression and substance use disorder
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Key takeaways
- rs1245133 is linked to substance use disorder with a strong association
- The variant increases NCAM1 expression in testis and decreases it in muscle tissue
- No known disease directly caused by this SNP
Key takeaways
- rs1245133 is linked to substance use disorder with a strong association
- The variant increases NCAM1 expression in testis and decreases it in muscle tissue
- No known disease directly caused by this SNP
What the research says The GWAS Catalog reports that rs1245133 is associated with substance use disorder, a reported effect size of 5.67 and p=1e-8 in about 1.5 million individuals [41057643]. GTEx data indicate that the variant leads to increased NCAM1 expression in testis and decreased expression in muscle tissue [GTEx Portal].
Reported associations
- Substance use disorder - the variant is linked to this condition with a reported effect size of 5.67, p=1e-8, in about 1.5 million individuals [41057643].
Evidence quality The GWAS Catalog study (PMID 41057643) reports a strong association with substance use disorder, effect size 5.67 p=1e-8 in about 1.5 million individuals. No other studies directly link this variant to disease; the expression data are tissue-specific and not disease-relevant.
Tissue-specific expression effects
- NCAM1: increased expression in testis, decreased expression in muscle_ skeletal [GTEx Portal].
- NCAM1-AS1: decreased expression in muscle_ skeletal [GTEx Portal].
Last lifestyle considerations on file for this variant.
Frequently asked questions
What does the rs1245133 variant do?
The rs1245133 variant is associated with substance use disorder and influences NCAM1 expression in testis and muscle tissue.
Is rs1245133 linked to a disease?
Yes, it has been linked to substance use disorder based on GWAS data. It also affects gene expression but does not cause the condition itself.
Can this variant be used for health monitoring?
The evidence is limited; the association with substance use disorder is strong but no clinical test exists yet.