Association of Graves' disease and Graves' ophthalmopathy with the polymorphisms in promoter and exon 1 of cytotoxic T lymphocyte associated antigen-4 gene / 浙江大学学报(英文版)(B辑:生物医学和生物技术)
Journal of Zhejiang University. Science. B
; (12): 887-891, 2006.
Article
in English
| WPRIM (Western Pacific)
| ID: wpr-309057
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the association of Graves' disease and Graves' ophthalmopathy with the C/T transition polymorphism at position -318 of promoter and the A/G transition polymorphism at position 49 of exon 1 within cytotoxic T lymphocyte associated antigen-4 (CTLA-4) gene.</p><p><b>METHODS</b>Thirty-three patients with ophthalmopathy of Graves' disease, fifty-six Graves' patients without ophthalmopathy and sixty normal subjects as control were involved in the present case-control study. The polymorphisms were evaluated by polymerase chain reaction fragment length polymorphism (PCR-RFLP). Comparisons were made of gene frequencies and allele frequencies between the groups.</p><p><b>RESULTS</b>The gene frequencies of CT and allele frequencies of T were much higher in Graves' patients with ophthalmopathy than that in the group without ophthalmopathy (P=0.020, P=0.019). The gene frequencies of GG and allele frequencies of G in patients with Graves' disease were significantly increased as compared with control group (P=0.008, P=0.007). The data suggest that smokers with Graves' disease seemed to be more predisposed to ophthalmopathy than non-smokers (P=0.018).</p><p><b>CONCLUSION</b>Our results suggest that an allele of T at position -318 of promoter is associated with genetic susceptibility to Graves' ophthalmopathy while an allele of G at position 49 of exon 1 is associated with genetic susceptibility to Graves' disease instead. Smoking is believed to be a major risk factor for ophthalmopathy.</p>
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Polymorphism, Genetic
/
Antigens, Differentiation
/
Antigens, CD
/
Graves Disease
/
Polymerase Chain Reaction
/
Exons
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Sensitivity and Specificity
/
Promoter Regions, Genetic
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Genetic Predisposition to Disease
/
Graves Ophthalmopathy
Type of study:
Diagnostic study
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Observational study
/
Risk factors
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
English
Journal:
Journal of Zhejiang University. Science. B
Year:
2006
Document type:
Article