rs804292

This is a upstream gene variant variant in the NEIL2 gene.

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Research that mentions this SNP (1)

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Association of a variant in the muscarinic acetylcholine receptor 2 gene (CHRM2) with nicotine addiction
AssociationN=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.

Traits studied:AggressionAlcohol consumptionAlcohol dependenceBehavioral disinhibitionConduct disorderIllicit drug useNicotine useNon-substance behavioral disinhibitionSmoking behavior
PubMedDOIMetascience Observatory

About NEIL2

This gene encodes a member of the Fpg/Nei family of DNA glycosylases. These glycosylases initiate the first step in base excision repair by cleaving oxidatively damaged bases and introducing a DNA strand break via their abasic site lyase activity. This enzyme is primarily associated with DNA repair during transcription and acts prefentially on cytosine-derived lesions, particularly 5-hydroxyuracil and 5-hydroxycytosine. It contains an N-terminal catalytic domain, a hinge region, and a C-terminal DNA-binding domain with helix-two-turn-helix and zinc finger motifs. This enzyme interacts with the X-ray cross complementing factor 1 scaffold protein as part of a multi-protein DNA repair complex. A pseudogene of this gene has been identified. [provided by RefSeq, Mar 2017]

View all NEIL2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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