Population studies of polymorphisms of the serotonin transporter protein gene.
Am J Med Genet
; 88(1): 61-6, 1999 Feb 05.
Article
in En
| MEDLINE
| ID: mdl-10050969
ABSTRACT
The range of allele frequency variation in humans for any locus that may have functionally important genetic variation needs to be documented. Therefore, we tested two polymorphisms at the serotonin transporter protein locus (SLC6A4) in samples from seven specific populations from five continental regions. We studied the promoter polymorphism which is reported to have functional significance and to be associated with anxiety- and depression-related phenotypes [Lesch et al., 1996 Science 2741527-1531], and the intron 2 VNTR polymorphism [Lesch et al., 1994 J Neural Transm 95157-162]. Allele frequencies for both systems show significant global variation, and consequently so do haplotype frequencies. Linkage disequilibrium varied among the populations, being absent in some and highly significant in others. These differences further document a large potential for population stratification in association studies of either of these SLC6A4 polymorphisms.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Membrane Transport Proteins
/
Polymorphism, Genetic
/
Membrane Glycoproteins
/
Carrier Proteins
/
Gene Frequency
/
Nerve Tissue Proteins
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Humans
Language:
En
Journal:
Am J Med Genet
Year:
1999
Document type:
Article
Affiliation country:
United States