지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 1,160 - 1,169 (10page)
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초록· 키워드
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Purpose: This study was conducted to identify and to functionally characterize genetic variants in ST3GAL5 and ST8SIA1 in Koreanpatients 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 nonsynonymousvariant 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 promoterhaplotype and the clinical severity of TAO. However, further studies with larger sample sizes are warranted.
목차
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참고문헌 (26)
참고문헌 신청
Bahn RS / 2010 / Graves’ ophthalmopathy / N Engl J Med 362 : 726 ~ 738
Bartalena L / 2000 / Management of Graves’ ophthalmopathy:reality and perspectives / Endocr Rev 21 : 168 ~ 199
Choi JH / 2009 / Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1 / Pharmacogenet Genomics 19 : 770 ~ 780
Choi JH / 2011 / A common 5’-UTR variant in MATE2-K is associated with poor response to metformin / Clin Pharmacol Ther 90 : 674 ~ 684
Fragaki K / 2013 / Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency / Eur J Hum Genet 21 : 528 ~ 534
Bartalena L / 2000 / Management of Graves’ ophthalmopathy:reality and perspectives / Endocr Rev 21 : 168 ~ 199
Choi JH / 2009 / Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1 / Pharmacogenet Genomics 19 : 770 ~ 780
Choi JH / 2011 / A common 5’-UTR variant in MATE2-K is associated with poor response to metformin / Clin Pharmacol Ther 90 : 674 ~ 684
Fragaki K / 2013 / Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency / Eur J Hum Genet 21 : 528 ~ 534
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