IOVS
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Originally published In Press as doi:10.1167/iovs.07-1433 on February 22, 2008
 (Investigative Ophthalmology and Visual Science. 2008;49:2409-2415.)
© 2008 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.07-1433
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow All Versions of this Article:
iovs.07-1433v1
49/6/2409    most recent
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Google Scholar
Right arrow Articles by Chong, K. K. L.
Right arrow Articles by Pang, C.-P.
PubMed
Right arrow PubMed Citation
Right arrow Articles by Chong, K. K. L.
Right arrow Articles by Pang, C.-P.

Association of CTLA-4 and IL-13 Gene Polymorphisms with Graves’ Disease and Ophthalmopathy in Chinese Children

Kelvin K. L. Chong,1 Sylvia W. Y. Chiang,1 Gary W. K. Wong,2 Pancy O. S. Tam,1 Tsz-Kin Ng,1 Yi-Jun Hu,1,3 Gary H. F. Yam,1 Dennis S. C. Lam,1 and Chi-Pui Pang1

1From the Departments of Ophthalmology and Visual Science and 2Paediatrics, The Chinese University of Hong Kong; and the 3Joint Shantou International Eye Center, Shantou University Medical College, Shantou, China.

PURPOSE. The frequency of childhood Graves’ disease (GD) in Hong Kong Chinese is among the highest in the world but childhood Graves’ ophthalmopathy (GO) appears to have milder clinical severity than does the adult disease. This study was conducted to investigate CTLA-4 and IL-13 polymorphisms in Chinese pediatric patients with GD and GO.

METHODS. Recruited for the study were 177 childhood patients with GD (age range, 2–16 years) and 151 unrelated control subjects (age range, 4–16 years) for genotype analysis of IL-13 single-nucleotide polymorphisms (SNPs) (–1112C/T and 2044G/A), CTLA-4 SNPs (–318C/T, 49A/G, and CT60A/G), and the repeat length of (AT)n in the 3' untranslated region (UTR) of CTLA-4.

RESULTS. The patients with GD revealed higher frequencies of CTLA-4 49 GG genotype and G alleles than did the control subjects (P = 0.005 and P = 0.03, respectively). The CT60 GG genotype and G alleles were more prevalent in GD (P = 0.07 and P = 0.02, respectively). The CTLA-4 SNPs (–318C/T, 49A/G, and CT60A/G) were in the same haplotype block, and the CGG haplotype was associated with GD (P = 0.0071) but not GO. The shortest allele of (AT)n was protective against GD (P = 8.4 x 10–6). The IL-13 SNPs did not affect GD or GO risk. IL-13 –1112C/T was associated with IgE elevation (P = 0.044) and 2044G/A with proptosis (P = 0.02), but these associations became insignificant after Bonferroni correction (P = 0.22 and 0.10, respectively).

CONCLUSIONS. Three SNPs and the AT repeat length in CTLA-4 conferred susceptibility to childhood GD, whereas IL-13 polymorphisms did not. No association was found between CTLA-4 and IL-13 with GO.






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2008 by the Association for Research in Vision and Ophthalmology