Skripsi

Analisis Polimorfisme Gen Reseptor Progesteron rs139646398 pada Penderita Endometriosis di Indonesia. = Analysis of Progesterone Receptor Gene Polymorphism rs139646398 in Endometriosis Patients in Indonesia.

Endometriosis adalah suatu penyakit radang kronik yang dicirikan dengan adanya pertumbuhan jaringan mirip endometrium yang dapat ditemukan pada peritoneum, ovarium, dan septum retrovagina. Penyakit ini merupakan penyakit multifaktorial yang dapat disebabkan oleh faktor genetik dan lingkungan. Selain itu, faktor hormonal diketahui mempengaruhi perkembangan dan klinis endometriosis. Resistensi hormon progesteron merupakah salah satu penyebab terjadinya endometriosis karena sering dihubungkan dengan rendahnya kadar dan aktivitas kerja reseptor hormon progesteron pada endometriosis. Polimorfisme gen reseptor progesteron (PROGINS=progesterone receptor gene polymorphism) diketahui berkaitan dengan risiko endometriosis. Penelitian ini bertujuan untuk mengetahui hubungan polimorfisme gen reseptor progesteron (PR) rs139646398 dengan endometriosis di Indonesia. Penelitian cross sectional ini menggunakan 30 sampel jaringan endometriosis ovarium dari wanita penderita endometriosis dan 17 jaringan endometrium dari wanita tanpa endometriosis. Sampel DNA dari subjek diisolasi, dilakukan PCR, diikuti dengan proses elektroforesis, dan dilanjutkan dengan DNA sequencing. Hasilnya dianalisis secara statistik dengan uji Fisher. Tidak ditemukan perbedaan yang signifikan frekuensi genotip rs139646398 dari gen PR pada endometriosis ovarium dan kontrol (p=0,638). Penelitian ini menunjukkan tidak adanya hubungan antara polimorfisme gen reseptor progesteron rs139646398 dengan endometriosis di Indonesia.
Kata kunci: Polimorfisme, Gen Reseptor Progesteron rs139646398, Endometriosis.


Endometriosis is a chronic inflammatory disease characterized by the growth of endometrial-like tissues that can be found in peritoneum, ovary, and retrovaginal septum. This disease is a multifactorial disease caused by genetic and environmental factors. In addition, hormonal factors are known to influence the development and clinical symptom of endometriosis. Progesterone resistance is one of the causes of endometriosis. It is often associated with low levels or activity of hormone progesterone receptor in endometriosis patients. Progesterone receptor gene polymorphism (PROGINS) is known to be associated with the risk of endometriosis. This study aims to determine the relationship between progesterone receptor (PR) gene polymorphism rs139646398 with endometriosis. This cross sectional study used 30 endometriosis ovary samples from women suffered endometriosis and 17 endometrium tissues from women without endometriosis. DNA samples from subjects were isolated, PCR was carried out, then followed by electrophoresis, and continued with DNA sequencing. The results were statistically analysed by Fisher’s test. There was no statistically significant difference in genotype frequency of rs139646398 of the PR gene in ovarian endometriosis and controls (p=0.638). This study shows no relationship between progesterone receptor gene polymorphism rs139646398 and endometriosis in Indonesia.
Keywords: Polymorphism, Progesterone Receptor Gene rs139646398, Endometriosis.