rs4788985
This variant is located in the SEPTIN9 gene.
▶Research that mentions this SNP (1)
▶Association of a variant in the muscarinic acetylcholine receptor 2 gene (CHRM2) with nicotine addictionAssociationN=7,188Mobascher A. et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
A genome-wide association study of 7,188 Caucasian individuals examined the genetic basis of behavioral disinhibition across five phenotypes (nicotine use, alcohol consumption, alcohol dependence, illicit drug use, and non-substance disinhibition) using 527,829 autosomal SNPs. While no variants reached genome-wide significance after multiple testing correction, rs1868152 showed association with illicit drug use (p = 4.9 × 10⁻⁸, beta = 15.68) and 13 additional SNPs showed consistent directional effects across multiple phenotypes. Biometric heritability estimates (49-70%) substantially exceeded GCTA common variant estimates (8-37%), indicating that much of the genetic architecture remains unaccounted for by common variants.
About SEPTIN9
This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]
View all SEPTIN9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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