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Identification and Functional Characterization of ST3GAL5 and ST8SIA1 Variants in Patients with Thyroid-Associated Ophthalmopathy

Title
Identification and Functional Characterization of ST3GAL5 and ST8SIA1 Variants in Patients with Thyroid-Associated Ophthalmopathy
Authors
Park, Hyo JinKim, Ju HeeYoon, Jin SookChoi, Yang JiChoi, Yoon-HeeKook, Koung HoonChoi, Ji Ha
Ewha Authors
최지하
SCOPUS Author ID
최지하scopus
Issue Date
2017
Journal Title
YONSEI MEDICAL JOURNAL
ISSN
0513-5796JCR Link1976-2437JCR Link
Citation
vol. 58, no. 6, pp. 1160 - 1169
Keywords
ExophthalmosKoreasialyltransferasessingle nucleotide polymorphismthyroid-associated ophthalmopathy
Publisher
YONSEI UNIV COLL MEDICINE
Indexed
SCI; SCIE; SCOPUS; KCI WOS scopus
Abstract
Purpose: This study was conducted to identify and to functionally characterize genetic variants in ST3GAL5 and ST8SIA1 in Korean patients with thyroid-associated ophthalmopathy (TAO). Materials and Methods: Genetic analyses were conducted using DNA samples from TAO patients (n=50) and healthy subjects (n=48) to identify TAO-specific genetic variants of ST3GAL5 or ST8SIA1. The effect of each genetic variant on the transcription or expression of these genes was examined. Additionally, correlations between functional haplotypes of ST3GAL5 or ST8SIA1 and clinical characteristics of the patients were investigated. Results: Six promoter variants and one nonsynonymous variant of ST3GAL5 were identified, and four major promoter haplotypes were assembled. Additionally, three promoter variants and two major haplotypes of ST8SIA1 were identified. All ST3GAL5 and ST8SIA1 variants identified in TAO patients were also found in healthy controls. Promoter activity was significantly decreased in three promoter haplotypes of ST3GAL5 and increased in one promoter haplotype of ST8SIA1. Transcription factors activating protein-1, NKX3.1, and specificity protein 1 were revealed as having roles in transcriptional regulation of these haplotypes. The nonsynonymous variant of ST3GAL5, H104R, did not alter the expression of ST3GAL5. While no differences in clinical characteristics were detected in patients possessing the functional promoter haplotypes of ST3GAL5, exophthalmic values were significantly lower in patients with the ST8SIA1 haplotype, which showed a significant increase in promoter activity. Conclusion: These results from genotype-phenotype analysis might suggest a possible link between the ST8SIA1 functional promoter haplotype and the clinical severity of TAO. However, further studies with larger sample sizes are warranted.
DOI
10.3349/ymj.2017.58.6.1160
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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