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Journal : Journal of Global Pharma Technology

DNA METHYLATION IN THYROID-STIMULATING HORMONE GENE: PREDICTOR OF GRAVE’S DISEASE RECURRENCE IN INDONESIA Luluk yunaini; Dwi Anita Suryandari; Trisia Lusiana Amir; Dwi Yanti; Fatimah Eliana
Journal of Global Pharma Technology Volume 10 Issue 06: (2018) June 2018
Publisher : Journal of Global Pharma Technology

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Abstract

Thyroid-stimulating hormone receptor (TSHR) has a critical role in Graves’ disease (GD). GD is an autoimmune disease which is multifactorial. Environmental factors can affect the epigenetic, a changes in gene expression without any changes in base sequence of the DNA. One of the epigenetic types is methylation. This study aims to determine the status of DNA methylation in TSHR gene in patients with GD to be one of the predictors of recurrence. This study used a case control design with 58 samples of GD patients divided into 29 groups of recurrence and 29 groups of non-recurrence. DNA methylation examination used methylation-specific PCR (MSP) method. Our result found that DNA methylation profile of GD in Indonesia were 5% with complete DNA methylation, 17% complete DNA unmethylation and 78 partial DNA methylation. Statistical analysis showed no significant different between recurrence and non-recurrence group (p>0.05). Nevertheless, our result showed no patient with complete status DNA methylation was found in recurrence group. This shows that in recurrence occur a reduction of DNA methylation resulting in increasing of TSHR production. Thus, DNA methylation in TSHR gene might be has a role in the risk of recurrence GD.
Genetic Variation of At-Hook Transcription Factor (Akna) Rs3748178 is Associated with the Relapse of Graves’ Disease Dwi Anita Suryandari
Journal of Global Pharma Technology Volume 11 Issue 08 (2019) Aug. 2019
Publisher : Journal of Global Pharma Technology

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Abstract

Objective: As many as 30-60% of patients with Graves' disease (GD) have relapsed after antithyroid withdrawal, which may be caused by genetic variation of susceptibility factors. This study aimed to analyze the genetic variation of AT-hook transcription factor AKNA rs3748178 and its association with relapse in Graves' disease patients.Methods: This research was a case-control study examining 60 DNA samples of GD patients, who were equally allocated into relapse and remission groups. Genetic variation was analyzed with PCR-RFLP. Fisher's exact test was used for statistical analysis and a p-value less than 0.05 was considered significant.Results: The proportion of patients who experienced a relapse with homozygote wild type (n= 27, 90%) was significantly higher (p= 0.015) compared to the heterozygote and homozygote mutant (n=3, 10%). Graves’ disease patients with GG genotype were more likely to have a relapse (OR 6.00, 95% CI 1.48–24.3, p= 0.015). The proportion of patients who experienced a relapse with G allotype (95%) was significantly higher (p= 0.004) compared to A allotype (5%). Graves’ disease patients with G allotype were more likely to have a relapse (OR 6.33, 95% CI 1.73–23.2, p= 0.004).Conclusions: Genetic variation of AT-hook transcription factor AKNA rs3748178 is associated with relapse in GD patients.Keywords: Graves’ disease, recurrence, genetic variation