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Received: 2006-02-15

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Journal of Zhejiang University SCIENCE B 2006 Vol.7 No.11 P.887-891

http://doi.org/10.1631/jzus.2006.B0887


Association of Graves’ disease and Graves’ ophthalmopathy with the polymorphisms in promoter and exon 1 of cytotoxic T lymphocyte associated antigen-4 gene


Author(s):  ZHANG Qin, YANG Yun-mei, LV Xue-ying

Affiliation(s):  Department of Very Important People, the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China

Corresponding email(s):   zqdorothy@eyou.com

Key Words:  Graves&rsquo, ophthalmopathy, Cytotoxic T lymphocyte associated antigen-4 (CTLA-4) gene, Gene frequency, Susceptibility gene


ZHANG Qin, YANG Yun-mei, LV Xue-ying. Association of Graves’ disease and Graves’ ophthalmopathy with the polymorphisms in promoter and exon 1 of cytotoxic T lymphocyte associated antigen-4 gene[J]. Journal of Zhejiang University Science B, 2006, 7(11): 887-891.

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author="ZHANG Qin, YANG Yun-mei, LV Xue-ying",
journal="Journal of Zhejiang University Science B",
volume="7",
number="11",
pages="887-891",
year="2006",
publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.2006.B0887"
}

%0 Journal Article
%T Association of Graves’ disease and Graves’ ophthalmopathy with the polymorphisms in promoter and exon 1 of cytotoxic T lymphocyte associated antigen-4 gene
%A ZHANG Qin
%A YANG Yun-mei
%A LV Xue-ying
%J Journal of Zhejiang University SCIENCE B
%V 7
%N 11
%P 887-891
%@ 1673-1581
%D 2006
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.2006.B0887

TY - JOUR
T1 - Association of Graves’ disease and Graves’ ophthalmopathy with the polymorphisms in promoter and exon 1 of cytotoxic T lymphocyte associated antigen-4 gene
A1 - ZHANG Qin
A1 - YANG Yun-mei
A1 - LV Xue-ying
J0 - Journal of Zhejiang University Science B
VL - 7
IS - 11
SP - 887
EP - 891
%@ 1673-1581
Y1 - 2006
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.2006.B0887


Abstract: 
Objective: To investigate the association of graves&rsquo; disease and graves&rsquo; 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. Methods: Thirty-three patients with ophthalmopathy of graves&rsquo; disease, fifty-six graves&rsquo; 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. Results: The gene frequencies of CT and allele frequencies of T were much higher in graves&rsquo; 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&rsquo; disease were significantly increased as compared with control group (P=0.008, P=0.007). The data suggest that smokers with graves&rsquo; disease seemed to be more predisposed to ophthalmopathy than non-smokers (P=0.018). Conclusion: Our results suggest that an allele of T at position –318 of promoter is associated with genetic susceptibility to graves&rsquo; ophthalmopathy while an allele of G at position 49 of exon 1 is associated with genetic susceptibility to graves&rsquo; disease instead. Smoking is believed to be a major risk factor for ophthalmopathy.

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Reference

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