Molecular characterization of regulatory polymorphisms in the promoter region of the STAT6 gene in a Gabonese population
Mem. Inst. Oswaldo Cruz
; 106(1): 65-69, Feb. 2011. ilus, graf, tab
Article
in En
| LILACS
| ID: lil-578819
Responsible library:
BR1.1
ABSTRACT
Parasites remain competent invaders of host immunity. Their invasion strategies have proven to impact immunorelevant genes leading to diversity among gene families. We focussed on signal transducer and activator of transcription (STAT6) factor that plays a fundamental role in signal transduction and activation of transcription. Recent studies have highlighted the role of STAT6 variants in control of infection levels. We identified and investigated regulatory single nucleotide polymorphisms (SNPs) in the promoter regions of the STAT6 gene in a group of Gabonese individuals exposed to a variety of parasitic infections. Three promoter variants were identified in 40 individual subjects. We further validated these promoter variants for their allelic gene expression using transient transfection assays. One promoter variant, rs3024944 (G/C), revealed an altered expression of the marker gene. The identification of function-altering SNPs in the promoter may facilitate studying parasite susceptibility in association studies.
Key words
Full text:
1
Collection:
01-internacional
Database:
LILACS
Main subject:
Parasitic Diseases
/
Promoter Regions, Genetic
/
Polymorphism, Single Nucleotide
Type of study:
Prognostic_studies
Limits:
Humans
Country/Region as subject:
Africa
Language:
En
Journal:
Mem. Inst. Oswaldo Cruz
Journal subject:
MEDICINA TROPICAL
/
PARASITOLOGIA
Year:
2011
Type:
Article
Affiliation country:
Brazil
/
Germany