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"Graves disease is an autoimmune disorder which affect thyroid gland. Graves disease is the most common cause of hyperthyroidism and thyrotoxicosis. Understanding of disease pathophysiology, diagnostic and treatment strategies, and prevention of disease relapse are important for all clinicians especially internal medicine specialist to give optimal and comprehensive management for Graves disease patients. This article highlights clinical points to treat Graves disease patients from reviews and latest guidelines from American Thyroid Association (ATA), European Thyroid Association (ETA), and Japan Thyroid Association/ Japan Endocrine Society.

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Penyakit Graves atau Graves’ disease merupakan penyakit autoimun yang mengenai kelenjar tiroid. Penyakit Graves merupakan penyebab tersering hipertiroidisme dan tirotoksikosis. Pemahaman mengenai patofisiologi penyakit, strategi diagnosis dan terapi, serta pencegahan relaps penting diketahui oleh semua klinisi khususnya spesialis penyakit dalam untuk memberikan manajemen yang optimal dan komprehensif bagi pasien penyakit Graves. Artikel ini memberikan poin-poin klinis untuk manajemen pasien dengan penyakit Graves berdasarkan review dan guidelines terbaru dari American Thyroid Association (ATA), European Thyroid Association (ETA), dan Japan Thyroid Association/ Japan Endocrine Society."

"Kondisi hipertiroidisme berkorelasi dengan kejadian atherosclerosis cardiovascular disease (ASCVD). Hal ini dapat terjadi melalui jalur resistensi insulin, metabolisme lipid, dan inflamasi yang dapat menyebabkan disfungsi endotel. Sebaliknya, pemberian obat antitiroid seperti propiltiourasil (PTU) atau metimazol memiliki potensi untuk memperbaiki disfungsi endotel yang terjadi. PTU memiliki keunggulan dibandingkan metimazol dalam hal menghambat migrasi dan proliferasi otot polos vaskular. Studi ini bertujuan untuk mempelajari peran hormon tiroid dan pengobatannya pada pasien Graves terhadap penanda dini aterosklerosis.Studi ini merupakan uji klinis tersamar tunggal yang dilakukan di RSUPN Dr. Cipto Mangunkusumo (RSCM) pada pasien Graves baru yang diberikan PTU atau metimazol selama 3 bulan. Kedua kelompok diperiksakan HOMA-IR,LDL-R, NF-kB, sICAM-1, sVCAM-1 dan sE-selektin serta pulse wave velocity (PWV) dan carotid intima media thickness (cIMT) saat sebelum terapi, setelah terapi 1 bulan dan 3 bulan. Dilakukan uji Pearson atau Spearman untuk menilai korelasi antar variabel. Perubahan variabel dalam 3 bulan dinilai dengan uji repeated ANOVA. Perbedaan pada kelompok PTU dan metimazol dinilai dengan uji general linear model.Selama bulan Juli 2019 hingga Agustus 2020, didapatkan 36 pasien Graves baru. Pada uji korelasi didapatkan konsentrasi T4 bebas berkorelasi dengan sICAM-1(r = 0,41; p = 0,013) dan sVCAM-1 (r = 0,458; p = 0,005), begitu juga T3 total berkorelasi dengan sICAM-1 (r = 0,513; p = 0,001) dan sVCAM-1 (r = 0,567;p < 0,001). Pada tindak lanjut 3 bulan, didapatkan 24 subjek (13 kelompok PTU dan 11 kelompok metimazol) yang menyelesaikan pemeriksaan dan mencapai eutiroid. Pada kelompok PTU, didapatkan penurunan LDL-R (p = 0,017),sICAM-1 (p = 0,001), sVCAM-1 (p < 0,001) dan sE-selektin (p = 0,045). Pada kelompok metimazol terjadi penurunan hanya pada LDL-R (p = 0,011) dan sVCAM-1 (p = 0,001). Namun pada perbandingan kedua kelompok tidak berbeda bermakna. Parameter PWV dan cIMT juga tidak berbeda bermakna.Simpulan: Pada penelitian ini kondisi hipertiroid pasien Graves berkorelasi dengan peningkatan sICAM-1 dan sVCAM-1 sebagai penyebab aterosklerosis. Pemberian obat antitiroid dapat menurunkan LDL-R, sICAM-1, sVCAM-1 dan sE-selektin. PTU memiliki mekanisme yang berbeda dari metimazol dalam patofisiologi aterosklerosis. Akan tetapi, belum didapatkan bukti pada perubahan PWV dan cIMT

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Hyperthyroidism is correlated with atherosclerosis cardiovascular disease (ASCVD). The basic mechanisms are through insulin resistance, lipid metabolism, and inflammation resulted in endothelial dysfunction. On the other hand, antithyroid drugs such as propiltiourasil (PTU) or methimazole have the potential to improve the endothelial dysfunction. PTU is believed to have a better profile than methimazole in reducing smooth muscle cells migration and proliferation. This study aims to investigate the effect of thyroid hormone and its treatment in Graves’ disease to early marker of atherosclerosis.

This study is a single-blinded clinical trial conducted in dr. Cipto Mangunkusumo General Hospital (RSCM) to newly diagnosed Graves’ patient treated with PTU or methimazole for 3 months. Both groups were examined for LDL-R, NF-ĸB, sICAM-1, sVCAM-1, sE-selectin, pulse wave velocity (PWV) and carotid intima media thickness (cIMT) at baseline, after 1 month and 3 months treatment. Pearson or Spearman test was done to analyze correlation between tested variables. Repeated ANOVA test was done to analyze the changes in those variables during 3 months treatment. Difference between PTU and methimazole groups was analyzed with general linear model test.

From July 2019 to August 2020, 36 newly diagnosed Graves’ patients were included in the study. Correlation test showed free T4 concentration correlated to sICAM-1 (r = 0.41; p = 0.013) and sVCAM-1 (r = 0.458; p = 0.005), and total T3 also correlated to sICAM-1 (r = 0.513; p = 0.001) and sVCAM-1 (r = 0.567; p < 0.001). After 3 months follow up, 24 subjects (13 from PTU group and 11 from methimazole group) reached euthyroid state and included in the analysis. In PTU group, we found reduction in LDL-R (p = 0.017), sICAM-1 (p = 0.001),

sVCAM-1 (p < 0.001) and sE-selectin (p = 0.045). While in methimazole groups, we only found reduction in LDL-R (p = 0.011) and sVCAM-1 (p = 0.001). However, after comparing both groups, the differences were not statistically significant. We found no significant changes in PWV and cIMT parameter.

In conclusions, this study found that hyperthyroidism in Graves’ patient correlated with increase in sICAM-1 and sVCAM-1, which are the early markers of atherosclerosis. Antithyroid drugs can lower LDL-R, sICAM-1, sVCAM-1 and sE-selectin. PTU had a different mechanism in pathophysiology of atherosclerosis compared to methimazole. However, we found no evidence in PWV and cIMT changes"

"Graves’ ophthalmopathy is the most common extra-thyroid manifestation in patients with Graves’ disease, based on inflammatory and autoimmune conditions in orbital tissue. This practical guideline was formed by a multidiciplinary team, and is intended to provide guidance for diagnosis and management of Graves’ ophthalmopathy in daily clinical practice to improve quality of care and treatment outcome.

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Oftalmopati Graves merupakan manifestasi ekstra-tiroid yang paling sering dijumpai pada pasien dengan penyakit Graves, yang didasari oleh kondisi inflamasi dan autoimun pada jaringan orbital. Panduan praktis ini dibuat oleh tim dengan anggota yang terdiri dari berbagai disiplin ilmu, dan diharapkan dapat memberikan panduan untuk pendekatan diagnosis dan tatalaksana oftalmopati Graves dalam praktek klinik sehari-hari untuk meningkatkan mutu pelayanan dan hasil pengobatan pada pasien."

"Penyakit Graves merupakan penyakit autoimun pada kelenjar tiroid dengan manifestasi berbagai sistem organ, termasuk sistem kardiovaskular akibat hipertiroid. Pada pasien hipertiroid terjadi peningkatan fungsi sistolik ventrikel kiri dibandingkan populasi normal. Beberapa penelitian tentang kadar hormon tiroid mendapatkan hasil yang berbeda-beda. Hipotesis pada penelitian ini adalah peningkatan kadar hormon tiroid akan diikuti peningkatan fungsi ventrikel kiri.TujuanDiketahui korelasi kadar tiroksin bebas dan fraksi ejeksi ventrikel kiri pada pasien Graves yang belum diobati.MetodePada penelitian potong lintang ini digunakan kadar tiroksin bebas sebagai parameter hormon tiroid dan fraksi ejeksi ventrikel kiri (LVEF) menurut cara Simpson yang dimodifikasi dengan ekokardiografi sebagai parameter fungsi sistolik ventrikel kiri. Kadar tiroksin bebas diperiksa di laboratorium sedangkan fraksi ejeksi ventrikel kiri cara Simpson dinilai dengan alat ekokardiografi.HasilDidapatkan 10 pasien, 7 laki-laki dan 3 perempuan, dengan usia 18-52 tahun. Lama gejala dirasakan pasien 2-12 bulan. Pada pasien didapatkan rerata kadar fT4 5,75 (SB 0,96) ngldL dan rerata fraksi ejeksi ventrikel kiri 70,57 (SB 4,50) %. Didapatkan koefisien korelasi positif antara kadar tiroksin bebas dan fraksi ejeksi ventrikel kiri (r=0,711, p=0,021) pada pasien Graves yang belum diobatiKesimpulanPada penelitian ini didapatkan korelasi positif kuat antara kadar tiroksin bebas (fT4) dan fraksi ejeksi ventrikel kiri (LVEF) pada pasien Grave yang belum mendapat pengobatan.

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Graves' disease is an autoimmune disease of thyroid gland which can be manifested in many organ system, especially cardiovascular system due to hyperthyroid. Hyperthyroid patients have a higher left ventricular systolic function than normal. Several studies of correlation between thyroid hormone level and cardiac function have showed different results. The hypotesis tested in this study is the increasing thyroid level will followed by the increase of left ventricular systolic function in Graves' disease.

Objective

To determine the correlation between thyroid hormone level and left ventricular ejection fraction in newly diagnosed Graves' patients.

Methods

In this cross-sectional study, we use the free thyrosine level as a parameter of thyroid hormon and use left ventricular ejection fraction as a parameter of left ventricular systolic function. Free thyroxine level was measured in the laboratory and the LVEF were assessed by Simpson's methods of echocardiography study.

Results

Ten patients (7 men and 3 women; age 18-52 years old) were studied. Their average of ff4 was 5.75 (SD 0.96) ngldL and their average of LVEF was 70.57 (SD 4.50) %. There was positive correlation coefficient between free thyroxine level and left ventricular ejection fraction (r=0.711, p=0.021) in newly diagnosed Graves' patients.

Conclusion

In this study there was strong positive correlation between free thyroxine (fT4) and left ventricular ejection fraction (LVEF) in newly diagnosed Graves' patients."

"Latar belakang. Pada penyakit graves (GD), konsentrasi vitamin D berbanding terbalik dengan titer antibodi dan berbanding lurus dengan status remisi. Pembentukan autoantibodi diawali dari pajanan self antigen oleh sel dendritik (DC), sebagai antigen presenting cell (APC), ke sel T naif. Kemampuan DC sebagai APC ditentukan oleh tingkat kematangannya. Sel dendritik, APC utama pada GD, bersifat lebih aktif dalam respons imun dibandingkan dengan subjek sehat. Studi pada SLE, MS, dan penyakit crohn menunjukkan efek imunoregulator vitamin D terutama melalui hambatan pematangan DC sehingga fungsi imunogenitasnya berkurang.Tujuan. Mengetahui efek 1,25-D3 in vitro dan 1α-D3 in vivo terhadap pematangan DC pasien GDMetode. Pada periode Mei 2014 sampai dengan Maret 2015 dilakukan studi eksperimental dan klinis, masing-masing pada 12 dan 25 pasien GD fase hipertiroid. Pada studi eksperimental, dilakukan kultur monocyte derived dendritic cell (MDDC) pasien GD dengan atau tanpa intervensi 1,25-D3 in vitro pada tahap monosit dan maturasi distimulasi dengan lipopolysaccharide (LPS). Pada studi klinis, sebanyak 12 dan 13 pasien GD, masing-masing mendapatkan 1α-D3 dan plasebo selama 8 minggu, di samping mendapatkan terapi standar PTU 100 mg 3 kali sehari. Kultur MDDC dilakukan sebelum dan sesudah suplementasi dan dilakukan perbandingan pematangan DC sebelum dan sesudah suplementasi pada kedua kelompok. Pematangan DC dilihat dari ekspresi penanda DC (HLA-DR, CD80, CD40, CD83, CD14, dan CD206) dan rasio sitokin IL-12/IL-10 pada supernatan kultur.Hasil. Pada studi in vitro, pascastimulasi LPS, DC yang dikultur dengan 1,25-D3 menunjukkan ekspresi HLA-DR, CD80, CD40, dan CD83 lebih rendah serta ekspresi CD14 dan CD206 yang lebih tinggi dibandingkan dengan DC yang dikultur dengan LPS saja. Pada DC yang dikultur dengan 1,25-D3, didapatkan rasio IL-12/IL-10 lebih rendah daripada DC tanpa 1,25-D3. Pada studi klinis, apabila dibandingkan antara ekspresi penanda DC serta rasio IL-12/IL-10 sebelum dan sesudah suplementasi 1α-D3 selama 8 minggu, belum didapatkan perbedaan yang bermakna pada ekspresi penanda DC dan rasio sitokin IL-12/IL-10.Simpulan. Pemberian 1,25-D3 in vitro menghambat pematangan DC pasien GD, sedangkan efek pemberian 1α-D3 in vivo terhadap pematangan DC belum dapat ditunjukkan pada penelitian ini.

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Background. In graves? disease (GD), vitamin D levels is inversely proportional to antibody titer and proportionally associated with remission status. The development of autoantibody is initiated by self-antigen exposure by dendritic cells (DC) as the antigen presenting cells (APC) to the naïve T cells. The ability of DC as APC is determined by its maturity level. Dendritic cells, the major APC in GD, have more active immune responses than those in healthy subjects. Studies on systemic lupus erythematosus (SLE), multiple sclerosis (MS) and crohn?s disease have demonstrated immunoregulator effects of vitamin D, mainly through inhibition of DC maturation, which may lead to lower immunogenic function.

Aim. To identify the effect of 1,25-D3 in vitro and 1α-D3 in vivo on DC maturation in patients with GD.

Method. Our study consisted of an experimental and a clinical study started from May 2014 until March 2015, which was conducted in 12 and 25 GD patients with thyrotoxicosis, respectively. In the experimental study, cultures of monocyte derived dendritic cell (MDDC) of GD patients were performed, with or without intervention of 1,25-D3 in vitro at monocytic phase and the maturation was stimulated by lipopolysaccharide (LPS). In the clinical study, there were 12 GD patients who received 1α-D3 supplementation and 13 GD patients who received placebo for 8 weeks, in addition to the standard treatment of PTU 100 mg three times a day. MDDC cultures and comparison of DC maturation were performed before and after the supplementation for both groups. DC maturation was evaluated based on the expression of DC markers (HLA-DR, CD80, CD40, CD83, CD14 and CD206) and the ratio of cytokines IL-12/IL-10 levels in the culture supernatants.

Results. In the in vitro study and following the LPS stimulation, DC cells cultured with 1,25-D3 showed lower expression of HLA-DR, CD80, CD40 and CD83 and higher expression of CD14 and CD206 compared to DC cultured with LPS alone. DC, which were cultured with 1,25-D3 had lower ratio of IL-12/IL-10 levels than those cultured without 1,25-D3. In the clinical study, when the expression of DC marker as well as the ratio of IL-12/IL-10 levels between before and after the 8-week supplementation of 1α-D3 were compared, we found no significant difference on the expression of DC markers and the ratio of IL-12/IL10.

Conclusion. In vitro 1,25-D3 supplementation inhibits DC maturation in patients with GD; while the effects of in vivo 1α-D3 treatment on DC maturation have not been clearly demonstrated in the present study yet."

"Latar belakang: Sekitar 50% pasien penyakit Graves mengalami kekambuhan setelah obat antitiroid diberhentikan. Padahal penyakit Graves yang kambuh umumnya bersifat lebih berat, sehingga membutuhkan terapi yang lebih agresif. Dengan demikian penting untuk mengetahui faktor untuk memprediksi kekambuhan penyakit Graves. Faktor risiko kekambuhan penyakit Graves di antaranya adalah usia, tanda klinis, faktor lingkungan, serta faktor genetik. Gen SCGB3A2 merupakan salah satu gen yang berkaitan dengan penyakit Graves. Genotip AA dan GA, serta alel A gen SCGB3A2 rs1368408 diketahui merupakan faktor risiko timbulnya penyakit Graves. Namun, gen SCGB3A2 rs1368408 belum diketahui asosiasinya dengan kekambuhan penyakit Graves. Tujuan: Mengetahui hubungan polimorfisme gen SCGB3A2 rs1368408 dengan kekambuhan penyakit Graves. Metode: Desain penelitian ini adalah penelitian potong lintang dengan total 77 sampel. Sampel yang digunakan adalah DNA yang telah diisolasi dari pasien yang telah menjalani terapi obat antitiroid selama ≥12 bulan. Sampel dipilih dengan metode consecutive sampling. Data yang diambil yaitu genotip dan alotip gen SCGB3A2 rs1368408 melalui teknik tetra-primer ARMS-PCR. Sampel dikelompokkan sesuai dengan kekambuhannya dan dilihat frekuensi genotip dan alotip dari masing-masing kelompok. Data juga dianalisis dengan uji chi-square atau uji Fisher untuk melihat asosiasi genotip dan alotip gen SCGB3A2 rs1368408 dengan kekambuhan penyakit Graves.Hasil: Frekuensi genotip pada keseluruhan sampel pasien penyakit Graves didapatkan 98,7% GG dan 1,3% GA. Pada kelompok kambuh didapatkan genotip 97,8% GG dan 2,2% GA, serta alotip 98,9% alel G dan 1,1% alel A. Sedangkan pada kelompok tidak kambuh 100% memiliki genotip GG, sehingga didapatkan frekuensi alotip 100% alel G. Dari analisis menggunakan uji Fisher, tidak didapatkan perbedaan signifikan antara genotip gen SCGB3A2 rs 1368408 dan kekambuhan penyakit Graves (p=1.000). Analisis uji Fisher pada alotip gen SCGB3A2 rs1368408 juga menunjukkan tidak adanya perbedaan signifikan dengan kekambuhan penyakit Graves (p=1.000). Simpulan: Tidak terdapat asosiasi genotip atau alotip gen SCGB3A2 rs1368408 dengan kekambuhan penyakit Graves.

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Background: Approximately 50% of Graves’ disease patients experience a relapse after discontinuation of antithyroid drugs. Relapsed Graves’ disease patients are generally more severe and require more aggressive therapy. Thus, it is important to know the factors that can predict the relapse of Graves’ disease. Age, clinical signs, environment, and genetic are some of the risk factors for Graves’ disease relapse. SCGB3A2 gene is one of the genes associated with Graves’ disease. Genotype GA and AA, as well as alelle A of SCGB3A2 gene rs1368408 are known to be risk factors for Graves’ disease. However, the association between SCGB3A2 gene rs1368408 and relape of Graves’ disease is not yet known.

Objective: To determine the correlation between the polymorphism of SCGB3A2 gene rs1368408 and Graves' disease relapse.

Methods: Study design of this study was cross-sectional with a total of 77 samples. The sample used in this study was DNA that had been isolated from patients who have received antithyroid drug treatment for ≥12 months. Samples were selected through consecutive sampling method. The data taken were genotypes and allotypes of SCGB3A2 gene rs1368408 using tetra-primer ARMS-PCR technique. Samples were grouped according to the incidence of relapse. The genotype and allotype frequency of each group was observed. Data were also analyzed using chi-square test or Fisher’s exact test to determine the association of genotype and allotype of SCGB3A2 gene rs1368408 with Graves’ disease relapse.

Results: The genotype frequency in the entire sample of patients with Graves’ disease was found to be 98.7% GG and 1.3% GA. In the relapse group, the genotype observed was 97.8% GG and 2.2% GA whereas the allotype frequency in this group was 98.9% G allele and 1.1% A allele. All samples in non-relapse group had GG genotype (100%), thus the allotype frequency was 100% G allele. Analysis using Fisher’s exact test showed no significant difference between genotype of SCGB3A2 gene rs1368408 and Graves’ disease relapse (p=1.000). Fisher's exact analysis of SCGB3A2 gene rs1368408 allotype also found no significant difference with Graves' disease recurrence (p=1.000).

Conclusions: There was no association between genotype or allotype of SCGB3A2 gene rs1368408 and Graves' disease relapse."

"Latar Belakang. Kualitas hidup merupakan keluaran klinis yang seringkali terlupakan pada pengkajian pasien penyakit Graves. Saat ini belum ada kuesioner kualitas hidup pasien gangguan tiroid yang tervalidasi dalam Bahasa Indonesia. Penelitian terkait kualitas hidup belum pernah dilakukan pada pasien penyakit Graves di Indonesia. Metode. Penelitian ini menggunakan desain potong lintang yang terbagi ke dalam dua tahap yaitu (1) validasi kuesioner ThyPRO dalam Bahasa Indonesia dan (2) pengambilan data kualitas hidup pasien penyakit Graves dan faktor-faktor yang memengaruhinya. Studi ini dikerjakan pada bulan Maret sampai November 2022 di Poliklinik Endokrin Metabolik RSCM, Jakarta, Indonesia. Hasil. 50 subjek pasien gangguan tiroid dan 150 subjek pasien penyakit Graves berpartisipasi masingmasing pada tahap pertama dan kedua penelitian ini. Tahap pertama studi ini menghasilkan kuesioner ThyPROid (Thyroid-Related Patient-Reported Outcome Indonesian version) atau “Kuesioner Kualitas Hidup Pasien Tiroid Berbahasa Indonesia” yang secara keseluruhan valid dan reliabel. Kualitas hidup pasien penyakit Graves yang diperoleh pada penelitian ini adalah baik (72,7%) dan kurang (27,3%). Faktor-faktor yang memengaruhi kualitas hidup kurang pada penelitian ini adalah Indeks Wayne dengan skor di atas 19 dan oftalmopati derajat sedang-berat dan aktif. Riwayat sudah diobati, baik dengan obat anti-tiroid, pembedahan maupun terapi iodium radioaktif merupakan faktor protektif bagi kualitas hidup kurang. Kesimpulan. Menggunakan kuesioner ThyPROid yang sudah divalidasi dalam Bahasa Indonesia, sebagian besar pasien penyakit Graves memiliki kualitas hidup yang baik. Faktor yang memengaruhi kualitas hidup kurang adalah Indeks Wayne, oftalmopati derajat sedang-berat dan aktif. Riwayat sudah diobati, baik dengan obat anti-tiroid, pembedahan maupun terapi iodium radioaktif, merupakan faktor protektif kualitas hidup kurang. Kata kunci. Penyakit Graves, kualitas hidup, Indonesia, ThyPRO, Indeks Wayne, oftalmopati, pengobatan, obat anti-tiroid, pembedahan, terapi iodium radioaktif.

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Introduction. Quality of life is a clinical outcomes which frequently forgotten in any assessment of patients with Graves’ disease. There is currently no questionnaire for quality of life assessment for patients with thyroid disease which are validated in Bahasa Indonesia. Study about quality of life has never been conducted in patients with Graves’ disease in Indonesia.

Methods. This cross-sectional study divided into two phases, that is: (1) ThyPRO questionnaire validation in Bahasa Indonesia, and (2) data collection on quality of life in patients with Graves’ disease and the factors affected it. This study was conducted on March to November 2022 in Endocrine & Metabolic Polyclinic Cipto Mangunkusumo Hospital, Jakarta, Indonesia.

Results. 50 subjects of patients with thyroid disease and 150 subjects of patients with Graves’ disease participated each in the first and the second phase of the study. First phase of the study resulted with ThyPROid questionnaire (Thyroid-Related Patient Reported Outcome Indonesian version) which overall is valid and reliable. Quality of life in patients with Graves’ disease that were obtained from this study was good (72,7%) and poor (27,3%). Factors that affected poor quality of life in this study was higher score of Wayne Index (total score > 19) and moderate-to-severe degree and active Graves’ ophthalmopathy. History of treatment, either with anti-thyroid medication, surgery, or radioactive iodine therapy, was protective factor for poor quality of life.

Conclusion. Using ThyPROid questionnaire which were validated in Bahasa Indonesia, most of the patients with Graves’ disease in this study has good quality of life. Factors which affected poor quality of life was high Wayne Index and moderate-to-severe degree and active Graves’ ophthalmopathy. History of treatment, either with anti-thyroid medication, surgery, or radioactive iodine therapy, was protective factor for poor quality of life."

"Latar belakang: Penyakit Graves merupakan penyakit autoimun yang memiliki kemungkinan untuk kambuh setelah remisi. Sebanyak 50% pasien berisiko mengalami kekambuhan setelah menyelesaikan terapi obat antitiroid (OAT). Salah satu prediktor kekambuhan penyakit Graves adalah faktor genetik. Gen PTPN22 rs2476601 merupakan gen yang berperan dalam persinyalan sel T. Polimorfisme pada gen ini dapat memicu proses autoimun pada penyakit Graves.Tujuan: Mengetahui hubungan polimorfisme gen PTPN22 rs2476601 terhadap risiko kekambuhan penyakit Graves.Metode: Penelitian ini adalah penelitian observasional dengan metode cross sectional. Subjek penelitian merupakan 80 sampel DNA pasien penyakit Graves yang telah mendapatkan terapi OAT selama >12 bulan. Kekambuhan pada pasien dinilai dalam 12 bulan pasca pasien berhenti menggunakan OAT. Pemeriksaan genotip gen PTPN22 rs2476601 dilakukan menggunakan teknik Tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR).Hasil: Pada pasien penyakit Graves di Jakarta, frekuensi genotip GA ditemukan paling tinggi (77.5%) dibandingkan GG (18.75%) dan AA (3.75%). Genotip AA lebih sering ditemukan pada kelompok kambuh (6%) dibandingkan tidak kambuh (0%). Sementara itu, Genotip GA dan GG lebih sering ditemukan pada kelompok tidak kambuh (79% dan 21%) dibandingkan kambuh (77% dan 17%). Namun, hasil uji fisher tidak menunjukkan adanya perbedaan yang bermakna antara genotip gen PTPN22 rs2476601 dengan kekambuhan penyakit Graves (p=0.264). Frekuensi alotip alel A ditemukan lebih tinggi pada kelompok kambuh (45%) dibandingkan tidak kambuh (39%). Sedangkan, frekuensi alotip alel G ditemukan lebih tinggi pada kelompok tidak kambuh (61%) dibandingkan kambuh (53%). Namun, hasil uji chi-square juga tidak menunjukkan adanya perbedaan yang bermakna antara alotip gen PTPN22 rs2476601 dengan kekambuhan penyakit Graves (p=0.505).Kesimpulan: Polimorfisme gen PTPN22 rs2476601 tidak berhubungan dengan kekambuhan penyakit Graves pada populasi di Jakarta

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Background: Graves’ disease is an autoimmune disease that has a chance to recur after remission. 50% of patients have the risk of recurrence after completed anti-thyroid drugs (ATD) therapy. One of the recurrence predictors of Graves’ disease is the genetic factor. The PTPN22 rs2476601 gene is a gene involved in T cell signaling. Polymorphism in this gene may trigger the autoimmune process in Graves’ disease.

Aim: Determine the association between PTPN22 rs2476601 gene polymorphism and the recurrence risk of Graves’ disease.

Methods: This study was an observational study with a cross-sectional design. The subjects of this study were 80 DNA samples from patients with Graves’ disease who received ATD therapy for >12 months. Recurrence of the disease was assessed within 12 months after patients completed ATD therapy. Genotype examination of PTPN22 rs2476601 gene was performed using Tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) technique.

Results: Patients with Graves’ disease in Jakarta had the highest genotype frequency of GA (77.5%) compared to GG (18.75%) and AA (3.75%). AA genotype was more frequent in the recurrence group (6%) compared to non-recurrence (0%). In contrast, GA and GG genotype were more frequent in the non-recurrence group (79% and 21%) compared to recurrence (77% and 17%). However, the result of fisher test showed there was no significant difference between the genotype of PTPN22 rs2476601 gene and recurrence of Graves’ disease (p=0.264). The allotype frequency of A allele was higher in the recurrence group (45%) compared to non-recurrence (39%). Meanwhile, the allotype frequency of G allele was higher in the non-recurrence group (61%) compared to recurrence (53%). However, the result of chi-square test also showed there was no significant difference between the allotype of PTPN22 rs2476601 gene and recurrence of Graves’ disease (p=0.505).

Conclusion: PTPN22 rs2476601 gene polymorphism is not associated with the recurrence of Graves’ disease in Jakarta’s population."