POLYMORPHISMS OF THE PROGESTERONE RECEPTOR GENE IN ENDOMETRIOSIS PATIENTS OF SOUTH SUMATRA, INDONESIA

In: Jurnal Kedokteran dan Kesehatan : Publikasi Ilmiah Fakultas Kedokteran Universitas Sriwijaya · 2022 · vol. 9(2) , pp. 213–218 · doi:10.32539/jkk.v9i2.17508 · W4229369726
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This study identified the +331G/A progesterone receptor gene polymorphism in 42 endometriosis patients from Palembang, South Sumatra, with a 61.9% heterozygous mutant genotype frequency.

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This study investigated the presence of the +331G/A polymorphism in the progesterone receptor gene among endometriosis patients residing in Palembang, South Sumatra. Researchers analyzed tissue samples from 42 individuals using polymerase chain reaction and restriction fragment length polymorphism techniques to identify specific genetic variants. The results indicated that 61.9 percent of the subjects carried the heterozygous mutant genotype, with an overall polymorphic allele frequency of 30.9 percent, while no homozygous mutant cases were observed. This paper is centrally about endometriosis — specifically examining the association between progesterone receptor gene polymorphisms and the condition in a specific Indonesian population.

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Abstract

Polymorphisms of the progesterone receptor gene alter the expressions of two receptor isoforms involved in the regulation of progesterone's antiproliferative effect in endometriotic tissue. This study aims to identify the +331G/A polymorphism of the progesterone receptor gene in endometriosis patients in Palembang, South Sumatra. Identification of +331G/A single-nucleotide polymorphism (SNP) was conducted on 42 endometriosis patients through polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). In this study, twenty-six (61.9%) subjects had heterozygous mutant genotype for the +331G/A SNP. No subject with homozygous mutant genotype for the +331G/A polymorphism was identified. The frequencies of polymorphic alleles for the +331G/A polymorphism was 30.9%. In conclusion, the +331G/A progesterone receptor gene polymorphism was present in endometriosis patients in Palembang, South Sumatra. This finding may warrant further studies to determine whether this polymorphism play a role in the development of endometriosis in the Indonesian population.
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Polymorphisms of the Progesterone Receptor Gene in Endometriosis Patients of South Sumatra, Indonesia Main Article Content Keywords: endometriosis, gen reseptor progesterone, polimorfisme, 331G/AAbstract Polimorfisme pada gen reseptor progesteron dapat mengubah ekspresi dua isoform reseptor progesteron, yang terlibat dalam regulasi efek antiproliferatif progesteron di jaringan endometriotik. Studi ini bertujuan mengidentifikasi polimorfisme +331G/A gen reseptor progesteron pada pasien endometriosis di Palembang, Sumatera Selatan. Identifikasi single-nucleotide polymorphism (SNP) +331G/A dilakukan pada 42 pasien endometriosis dengan menggunakan polymerase chain reaction (PCR) dan restriction fragment length polymorphism (RFLP). Pada penelitian ini, didapatkan 26 subjek (61,9%) memiliki genotip heterozigot mutan terhadap SNP +331G/A. Tidak ditemukan subjek dengan genotip homozigot mutan terhadap SNP +331G/A. Frekuensi alel polimorfik SNP +331G/A didapatkan sebesar 30,9%. Dapat disimpulkan bahwa polimorfisme +331G/A gen reseptor progesteron teridentifikasi pada pasien endometriosis di Palembang, Sumatera Selatan. Penelitian selanjutnya diperlukan guna menentukan peran polimorfisme ini dalam patogenesis endometriosis, khususnya pada pasien di Indonesia.

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endometriosis

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last seen: 2026-06-10T17:14:06.276822+00:00
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