Skripsi

Hubungan Antara Variasi Genotip Gen FCRL3 Rs7528684 terhadap Kekambuhan Penyakit Graves pada Populasi Jakarta = Association of the Genotype Variants of FCRL3 Rs7528684 to the Recurrence of Graves’ Disease in Jakarta’s Population.

Latar belakang: Penyakit Graves merupakan penyakit autoimun yang melibatkan antibodi Thyroid-stimulating Hormone Receptor (TSH-R) dalam menstimulasi kelenjar tiroid sehingga terjadi sintesis dan sekresi hormon tiroid yang berlebih. Tingkat kekambuhan penyakit Graves mencapai 50% setelah terapi obat antitiroid diberikan. Sebagai penyakit yang bersifat multifaktorial, faktor genetik diketahui berperan 70-80% terhadap kejadian penyakit Graves. Salah satu polimorfisme genetik yang berkaitan dengan penyakit Graves adalah FCLR3 rs7528684. Namun, belum ada studi yang mengidentifikasi keterkaitan polimorfisme gen FCRL3 rs7528684 dengan kekambuhan penyakit Graves. Untuk itu, penelitian ini bertujuan untuk mengetahui hubungan genotip dan alotip SNP FCRL3 rs7528684 terhadap risiko kekambuhan penyakit Graves. Tujuan: Mengetahui hubungan polimorfisme gen FCRL3 rs7528684 terhadap kekambuhan penyakit Graves. Metode: Penelitian ini meggunakan desain studi cross sectional yang dilakukan pada 80 pasien penyakit Graves. Hasil isolasi DNA pasien dilakukan pemeriksaan genotyping dengan menggunakan metode tetra primer ARMS-PCR. Data hasil pemeriksaan genotyping kemudian dianalisis. Hasil: Terdapat 2 variasi genotip pada pasien penyakit Graves yaitu genotip GG (2,5%) dan genotipe GA (97,5%). Pada kelompok pasien penyakit Graves yang 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 A yaitu 53,03% dan 46,97%. Berdasarkan analisis uji fisher exact, tidak terdapat perbedaan bermakna antara frekuensi genotip gen FCRL3 rs7528684 terhadap kekambuhan penyakit Graves (P=0,167). Analisis uji chi square juga menunjukkan tidak terdapat perbedaan bermakna antara frekuensi alotip gen FCRL3 rs7528684 terhadap kekambuhan penyakit Graves (P=0,706). Simpulan: Tidak terdapat hubungan antara genotip dan alotip gen FCRL3 rs7528684 dengan kekambuhan penyakit Graves pada populasi Jakarta.
Kata kunci: FCRL3 rs7528684, FCRL3_3, FCRL3 -169C/T, Kekambuhan, Penyakit Graves


Latar belakang: Graves’ disease is an autoimmune disease in which Thyroid Stimulating Hormon Receptor (TSH-R) antibodies stimulate the thyroid gland, resulting in excess thyroid hormone synthesis and secretion. The recurrence rate of Graves’ Disease is 50% after finishing antithyroid drugs (ATD) treatment. As a multifactorial disease, genetics contribute 70-80% to the development of Graves’ disease. One of the genetic polymorphisms associated with Graves’ disease is FCRL3 rs7528684 single-nucleotid polymorphism (SNP). 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 genotype and allotype of the FCRL3 rs7528684 SNP and the recurrence of Graves’ Disease. Tujuan: To determine the association between the genetic polymorphism of FCRL3 rs7528684 and the recurrence of Graves’ Disease. Metode: 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. The results of the genotyping examination were then analyzed. Hasil: 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 fisher’s exact test analysis, there was no significant difference between the genotype frequency of FCRL3 rs7528684 SNP in Graves’ disease recurrence (P=0,167). Chi square test analysis also showed that there was no significant difference between the allotype frequency of FCRL3 rs7528684 SNP in Graves’ disease recurrence (P=0,706). Simpulan: There is no association between the genotype and allotype of the FCRL3 rs7528684 SNP and Graves’ disease recurrence in Jakarta’s population.
Key words: FCRL3 rs7528684, FCRL3_3, FCRL -169C/T, Graves Disease’, Relapse