SLC6A3*9

SLC6A3*9

Variant type:
Variation
Cytogenetic location:
5p15.3
Links:
OMIM: 126455.0001

Clinical significance

SLC6A3*9

Clinical significance:
Pathogenic, protective
Review status:
2 stars out of maximum of 4 stars
classified by multiple submitters
Number of submission(s):
2
Condition(s)
  • Nicotine dependence, protection against
  • SLC6A3*9
See supporting ClinVar records

1 Affected gene

Recent activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
protective
(Mar 5, 2012)
classified by single submitter
(literature only)
literature only
  • Nicotine dependence, protection against
germlinePubMed (2)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000038526
Pathogenic
(Mar 5, 2012)
classified by single submitter
(literature only)
literature only
  • SLC6A3*9
germlinePubMed (2)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000038527

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

Lerman et al. (1999) reported associations between allele 9 of the SLC6A3 gene, a polymorphism containing 9 repeats of the 40-basepair 3-prime VNTR, and lack of smoking, late initiation of smoking, and length of quitting attempts (see 188890). The association with smoking risk was modified by the DRD2 (126450) genotype, resulting in a 50% reduction in smoking risk for individuals carrying both SLC6A3*9 and DRD2-A2. Sabol et al. (1999) extended this study by examining both smoking behavior and personality traits of 1,107 individuals in a diverse population of nonsmokers, current smokers, and former smokers. A significant association between SLC6A3*9 and smoking status was confirmed and was due to an effect on cessation rather than initiation. The SLC6A3*9 polymorphism was also associated with low scores for novelty seeking, which was the most significant personality correlate of smoking cessation. Sabol et al. (1999) hypothesized that individuals carrying the SLC6A3*9 polymorphism have altered dopamine transmission, which reduces their need for novelty and reward by external stimuli, including cigarettes. Sabol et al. (1999) found that individuals carrying the SLC6A3*9 allele were 1.5-fold more likely to have quit smoking than were individuals lacking this polymorphism. The results supported the finding of Lerman et al. (1999) of an association between SLC6A3 and length of previous cessation attempts in current smokers.

Last Updated: Oct 30, 2014