Hubungan Polimorfisme Gen Cyp19A1 dengan Kejadian Polycystic Ovarian Syndrome

Authors

  • Elis Desmawati Fakultas Kedokteran, Universitas Sriwijaya

DOI:

https://doi.org/10.32583/pskm.v13i4.1204

Keywords:

gen cyp19a1, pcos, polimorfisme

Abstract

Polycystic Ovarian Syndrome ialah interaksi dari faktor genetik dan faktor lingkungan yang berhubungan dengan sistem reproduksi sehingga  dapat meningkatkan infertilitas dan gangguan metabolisme pada wanita  reproduktif. Maka dari itu, penelitian ini dilakukan untuk mengetahui hubungan polimorfisme gen CYP19A1 dengan Kejadian PCOS pada wanita usia reproduktif di sumatera selatan. Jenis penelitian secara statistic observasional analitik dengan desain case control, sampel DNA pada pasien PCOS Kasus dan Kontrol  diambil secara total sampling masing-masing sebanyak 36 sampel dilakukan dengan  tekhnik  PCR-RFLP. Hasil uji statistic  Chi Square didapatkan gen CYP19A1 rs700519 (C/T) nilai P value 1,000 OR : 1,122, nilai OR > 1 sehingga dapat disimpulkan bahwa Gen CYP19A1 rs700519 mempunyai  faktor risiko terjadinya polimorfisme dengan kejadian PCOS, frekuensi polimorfisme genotip dari gen CYP19A1 rs700519 tidak mempunyai hubungan akan tetapi pada kedua kelompok kasus dan kontrol  PCOS menunjukkan perbedaan signifikan, terlihat bahwa pada kelompok kasus ditemukan adanya mutasi gen heterozigot.

References

Ajmal, N., Khan, S. Z. and Shaikh, R. (2021) ‘Polycystic ovary syndrome (PCOS) and genetic predisposition: A review article’, European Journal of Obstetrics and Gynecology and Reproductive Biology: X, 3, p. 100060. doi: 10.1016/j.eurox.2019.100060.

Ashraf, S. et al. (2021) ‘Impact of rs2414096 polymorphism of CYP19 gene on susceptibility of polycystic ovary syndrome and hyperandrogenism in Kashmiri women’, Scientific Reports, 11(1), pp. 1–10. doi: 10.1038/s41598-021-92265-1.

Chaudhary, H. et al. (2021) ‘The role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis’, Journal of Ovarian Research, 14(1), pp. 1–21. doi: 10.1186/s13048-021-00879-w.

Chaudhary, H., Patel, J. and Jain, N. K. (2021) ‘Peran polimorfisme dalam berbagai gen potensial pada kerentanan dan patogenesis sindrom ovarium polikistik’, pp. 1–21. doi: 10.1186/s13048-021-00879-w.

Dadachanji, R., Shaikh, N. and Mukherjee, S. (2018) ‘Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology’, Genetics Research International, 2018. doi: 10.1155/2018/7624932.

Di, P. et al. (2017) ‘Update Konsorsium Internasional : Patofisiologi , Diagnosis , dan Pengobatan Sindrom Ovarium Polikistik pada Masa Remaja’, 17033. doi: 159/000479371.

Dou, Q. et al. (2017) ‘The relationship between the CYP19 alleles rs727479A/C, rs700518A/G, and rs700519C/T and pregnancy outcome after assisted reproductive technology in patients with polycystic ovary syndrome in a Chinese population: A population-based study’, Kaohsiung Journal of Medical Sciences, 33(11), pp. 558–566.doi: 10.1016/j.kjms.2017.06.008.

Emami, N. et al. (2021) ‘Differences in expression of genes related to steroidgenesis in abdominal subcutaneous adipose tissue of pregnant women with and without PCOS; a case control study’, BMC Pregnancy and Childbirth, 21(1), pp. 1–10. doi: 10.1186/s12884-021-03957-5.

Fauser, B. C. J. M. et al. (2012) ‘Consensus on women’s health aspects of polycystic ovary syndrome (PCOS): The Amsterdam ESHRE/ASRM-Sponsored 3rd PCOS Consensus Workshop Group’, Fertility and Sterility, 97(1), pp. 28-38.e25. doi: 10.1016/j.fertnstert.2011.09.024.

Heidarzadehpilehrood, R. et al. (2022) ‘A Review on CYP11A1, CYP17A1, and CYP19A1 Polymorphism Studies: Candidate Susceptibility Genes for Polycystic Ovary Syndrome (PCOS) and Infertility’, Genes, 13(2). doi: 10.3390/genes13020302.

Hestiantoro, A. et al. (2016) ‘Konsensus Tata Laksana Sindrom Ovarium Polikistik’, Himpunan Endokrinologi Reproduksi dan Fertilitas Indonesia (HIFERI) Perkumpulan Obstetri dan Ginekologi Indonesia (POGI), p. 79.

Hosseini, E. et al. (2019) ‘Role of epigenetic modifications in the aberrant CYP19A1 gene expression in polycystic ovary syndrome’, Archives of Medical Science, 15(4), pp. 887–895. doi: 10.5114/aoms.2019.86060.

Huber, J. C. and Tempfer, C. B. (2006) ‘Single nucleotide polymorphisms in gynecological endocrinology’, Expert Review of Endocrinology & Metabolism, 1(2), pp. 151–152. doi: 10.1586/17446651.1.2.151.

Issa, R. M. et al. (2009) ‘Estrogen receptor gene amplification occurs rarely in ovarian cancer’, Modern Pathology, 22(2), pp. 191–196. doi: 10.1038/modpathol.2008.130.

Jadi, M. (2021) ‘Sindrom Ovarium Polikistik; Sebuah Kajian Pustaka’, Midwifery Health Journal, 6(2),pp.1–10.at: http://ojs.stikeskeluargabunda.ac.id/index.php/jurnalkebidananjambi/article/view/68.

Kaur, R., Kaur, T. and Kaur, A. (2018) ‘Genetic association study from North India to analyze association of CYP19A1 and CYP17A1 with polycystic ovary syndrome’, Journal of Assisted Reproduction and Genetics, 35(6), pp. 1123–1129. doi: 10.1007/s10815-018-1162-0.

Liu, X., Xu, M. and Qian, M. (2022) ‘Polimorfisme gen CYP17 T / C ( rs74357 ) berkontribusi terhadap kerentanan sindrom ovarium polikistik : bukti dari meta-analisis’, 1(12).

Lizneva, D. et al. (2016) ‘Criteria, prevalence, and phenotypes of polycystic ovary syndrome’, Fertility and Sterility, 106(1), pp. 6–15. doi: 10.1016/j.fertnstert.2016.05.003.

Maggyvin, E. and Barliana, M. I. (2019) ‘Literature Review : Inovasi Terapi Polycystic Ovary Syndrome (Pcos) Menggunakan Targeted Drug Therapy Gen Cyp19 Rs2414096’, Farmaka, 17(1), pp. 107–118.

Moolhuijsen, L. M. E. et al. (2022) ‘Association between an AMH promoter polymorphism and serum AMH levels in PCOS patients’, Human Reproduction, 37(7), pp. 1544–1556. doi: 10.1093/humrep/deac082.

Özay, A. C. and Özay, Ö. E. (2021) ‘The importance of inflammation markers in polycystic ovary syndrome’, Revista da Associacao Medica Brasileira, 67(3), pp. 411–417. doi: 10.1590/1806-9282.20200860.

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Published

2023-06-15

How to Cite

Desmawati, E. (2023). Hubungan Polimorfisme Gen Cyp19A1 dengan Kejadian Polycystic Ovarian Syndrome. Jurnal Ilmiah Permas: Jurnal Ilmiah STIKES Kendal, 13(4), 1161–1168. https://doi.org/10.32583/pskm.v13i4.1204