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"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......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."

"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.......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."

"Penyakit Graves merupakan penyakit autoimun yang melibatkan antibodi TSH-R dalam menstimulasi kelenjar tiroid sehingga terjadi sintesis dan sekresi hormon tiroid yang berlebih. Sebanyak 50% pasien penyakit Graves mengalami kekambuhan setelah terapi obat antitiroid selesai diberikan. Faktor genetik salah satunya polimorfisme gen FCLR3 rs7528684 diketahui berperan terhadap kejadian penyakit Graves. Namun, belum ada studi yang mengidentifikasi keterkaitan polimorfisme gen FCRL3 rs7528684 dengan kekambuhan penyakit Graves. Untuk itu, penelitian ini bertujuan untuk mengetahui hubungan polimorfisme gen FCRL3 rs7528684 terhadap kekambuhan penyakit Graves. Desain penelitian yang digunakan adalah studi cross sectional yang dilakukan pada 80 pasien penyakit Graves. Hasil isolasi DNA pasien dilakukan pemeriksaan genotyping dengan menggunakan metode tetra primer ARMS-PCR. Hasil penelitian menunjukkan terdapat 2 variasi genotip pada pasien penyakit Graves yaitu genotip GG (2,5%) dan genotip GA (97,5%). Pada kelompok kambuh, 100% memiliki genotip GA sehingga frekuensi alotip G dan alotip A masing-masing 50%. Sementara itu, pada kelompok tidak kambuh, didapatkan 6,1% genotip GG dan 93,9% gentoip GA dengan frekuensi alotip G dan alotip A yaitu 53,03% dan 46,97%. Berdasarkan hasil analisis uji statistik, disimpulkan bahwa tidak terdapat hubungan antara genotip dan alotip gen FCRL3 rs7528684 dengan kekambuhan penyakit Graves pada populasi Jakarta.......Graves' disease is an autoimmune disease in which TSH-R antibodies stimulate the thyroid gland, resulting in excess thyroid hormone synthesis and secretion. 50% patients with graves’ disease relapse after finishing antithyroid drugs treatment. Genetics factor such as FCRL3 rs7528684 SNP contribute to the development of Graves' disease. However no study has yet identified an association of the FCRL3 rs7528684 SNP with Graves' disease recurrence. Therefore, this study aims to determine the association between the genetic polymorphism of FCRL3 rs7528684 and the recurrence of Graves' Disease. This cross-sectional clinical study was performed in 80 Graves' disease patients. DNAs of GD patients were isolated and then genotyped using tetra primer ARMS-PCR method. There are two genotype variations in patients with Graves' Disease, namely GG genotype (2,5%) and GA genotype (97,5%). In the relapsed group, 100% had the GA genotype, so the frequencies of G allotype and A allotype were 50% each. Meanwhile, in the remission group, there are 6,1% GG genotype and 93,9% GA genotype with G and A allotype frquencies were 53,03% and 46,97%, respectively. Based on statistic tests analysis, there is no association between the genotype and allotype of the FCRL3 rs7528684 SNP and Graves' disease recurrence in Jakarta's population."