1. Home
  2. Vol 7, No S1 (2022)
  3. Eldafira

Analysis of Genetic Studies in Association of a and b Estrogen Receptor Gene Polymorphisms Against Endometriosis

Eldafira Eldafira(1*), Novitasari Novitasari(2)
(1) Department of Biology, Faculty of Medicine, Universitas Indonesia
(2) Research Center of Testing Technology, The National Research and Innovation Agency, Jakarta
(*) Corresponding Author
DOI : 10.30604/jika.v7iS1.1269

Abstract

Endometriosis is a common cause of morbidity in women of unknown etiology. Several studies have shown endometriosis with a polygenic/multifactorial trait. To evaluate ? and ? estrogen receptor (ER) gene polymorphisms against endometriosis, this study was analyzed from an endometriosis outpatient clinic which compared 83 women with endometriosis and 76 women without endometriosis. The ER ? gene rs9340799 A/G and ER ? gene rs4986938 G/A polymorphism was identified by restriction fragment length polymorphism polymerase chain reaction. Genotype distribution and allele frequency of the +1730 G/A polymorphism in the ER ? gene rs9340799 A/G and ER ? gene rs4986938 G/A. The genetic model on the ER? rs2234693 SNP analysis that there is no significant difference in the four genetic models, but on the ER? rs498638, it appears that the genetic model dominant (GG vs (GA + AA) and co-dominant (GA vs GG + AA) showed significant differences with p less than 0.05, i.e. 0.013 and 0.06 respectively and with OR (95% CI) 0.350 and 3.258, respectively. For other genetic models, this SNP did not show significant differences. The data suggest that the ER ? gene rs4986938 G/A polymorphism can be associated with the risk of endometriosis development, regardless of the stage of the disease.

Keywords


IDS; DDoS; ZigBee; Naïve Bayes; Classification

References


[1] V. S. Baranov, T. E. Ivaschenko, T. Liehr, and M. I. Yarmolinskaya, “Systems genetics view of endometriosis: A common complex disorder,” Eur. J. Obstet. Gynecol. Reprod. Biol., vol. 185, pp. 59–65, 2015, doi: 10.1016/j.ejogrb.2014.11.036.

[2] H. S. Wang et al., “Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes,” PLoS One, vol. 7, no. 11 November, 2012, doi: 10.1371/journal.pone.0047374.

[3] S. J. Han and B. W. O’Malley, “The dynamics of nuclear receptors and nuclear receptor coregulators in the pathogenesis of endometriosis,” Hum. Reprod. Update, vol. 20, no. 4, pp. 467–484, 2014, doi: 10.1093/humupd/dmu002.

[4] Badan Penelitian dan Pengembangan Kesehatan, “Riset Kesehatan Dasar 2013,” Ris. Kesehat. Dasar 2013, 2013.

[5] E. Chantalat et al., “Estrogen receptors and endometriosis,” Int. J. Mol. Sci., vol. 21, no. 8, pp. 1–17, 2020, doi: 10.3390/ijms21082815.

[6] F. Zhang, Y. Yang, and Y. Wang, “Association between TGF-?1-509C/T polymorphism and endometriosis: A systematic review and meta-analysis,” Eur. J. Obstet. Gynecol. Reprod. Biol., vol. 164, no. 2, pp. 121–126, 2012, doi: 10.1016/j.ejogrb.2012.05.004.

[7] S. Govindan, N. A. Shaik, B. Vedicherla, V. Kodati, K. P. Rao, and Q. Hasan, “Estrogen receptor-? gene (T/C) Pvu II polymorphism in endometriosis and uterine fibroids,” Dis. Markers, vol. 26, no. 4, pp. 149–154, 2009, doi: 10.3233/DMA-2009-0625.

[8] A. J. Jakimiuk et al., “Prevalence of estrogen receptor ? PvuII and Xbal polymorphism in population of Polish postmenopausal women,” Folia Histochem. Cytobiol., vol. 45, no. 4, pp. 331–338, 2007, doi: 10.5603/4504.

[9] J. Bouquet De Jolinière, J. M. B. Ayoubi, L. Gianaroli, J. B. Dubuisson, J. Gogusev, and A. Feki, “Endometriosis: A New Cellular and Molecular Genetic Approach for Understanding the Pathogenesis and Evolutivity,” Front. Surg., vol. 1, no. May, 2014, doi: 10.3389/fsurg.2014.00016.

[10] C. Zhao, K. Dahlman-Wright, and J. A. Gustafsson, “Estrogen receptor beta: an overview and update.,” Nucl. Recept. Signal., vol. 6, pp. 1–10, 2008, doi: 10.1621/nrs.06003.

[11] S. E. Bulun et al., “Role of estrogen receptor-? in endometriosis,” Semin. Reprod. Med., vol. 30, no. 1, pp. 39–45, 2012, doi: 10.1055/s-0031-1299596.

[12] Q. Cai et al., “Genetic polymorphisms in the estrogen receptor ? gene and risk of breast cancer: Results from the Shanghai breast cancer study,” Cancer Epidemiol. Biomarkers Prev., vol. 12, no. 9, pp. 853–859, 2003.

[13] L. Becherini et al., “Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor ? gene and their relationship to bone mass variation in postmenopausal Italian women,” Hum. Mol. Genet., vol. 9, no. 13, pp. 2043–2050, 2000, doi: 10.1093/hmg/9.13.2043.

[14] H. Lu et al., “Association of estrogen receptor-? gene polymorphisms with coronary artery disease in patients with familial hypercholesterolemia,” Arterioscler. Thromb. Vasc. Biol., vol. 22, no. 5, pp. 821–823, 2002, doi: 10.1161/01.atv.0000014424.18209.21.

[15] M. W. Pfaffl, “Relative quantification,” Real-time PCR, pp. 64–82, 2007.

[16] E. Weiderpass, I. Persson, H. Melhus, S. Wedrén, A. Kindmark, and J. A. Baron, “Estrogen receptor ? gene polymorphisms and endometrial cancer risk,” Carcinogenesis, vol. 21, no. 4, pp. 623–627, 2000, doi: 10.1093/carcin/21.4.623.

[17] K. L. Lunetta, “Genetic association studies,” Circulation, vol. 118, no. 1, pp. 96–101, 2008, doi: 10.1161/CIRCULATIONAHA.107.700401.

[18] D. H. Lee et al., “Effects of 17b-estradiol on the release of monocyte chemotactic protein-1 and MAPK activity in monocytes stimulated with peritoneal fluid from endometriosis patients,” J. Obstet. Gynaecol. Res., vol. 38, no. 3, pp. 516–525, 2012, doi: 10.1111/j.1447-0756.2011.01734.x.

[19] H. T. T. Luong et al., “Fine mapping of variants associated with endometriosis in the WNT4 region on chromosome 1p36,” Int. J. Mol. Epidemiol. Genet., vol. 4, no. 4, pp. 193–206, 2013.

[20] D. K. Hapangama, A. M. Kamal, and J. N. Bulmer, “Estrogen receptor b: The guardian of the endometrium,” Hum. Reprod. Update, vol. 21, no. 2, pp. 174–193, 2015, doi: 10.1093/humupd/dmu053.

[21] P. Viganò, F. Parazzini, E. Somigliana, and P. Vercellini, “Endometriosis: Epidemiology and aetiological factors,” Best Pract. Res. Clin. Obstet. Gynaecol., vol. 18, no. 2, pp. 177–200, 2004, doi: 10.1016/j.bpobgyn.2004.01.007.

[22] C. S. De Mattos et al., “ESR1 and ESR2 gene polymorphisms are associated with human reproduction outcomes in Brazilian women,” J. Ovarian Res., vol. 7, no. 1, 2014, doi: 10.1186/s13048-014-0114-2.

[23] C. A. Anderson, F. H. Pettersson, G. M. Clarke, L. R. Cardon, A. P. Morris, and K. T. Zondervan, “Data quality control in genetic case-control association studies,” Nat. Protoc., vol. 5, no. 9, pp. 1564–1573, 2010, doi: 10.1038/nprot.2010.116.

[24] G. D. Adamson and D. J. Pasta, “Endometriosis fertility index: The new, validated endometriosis staging system,” Fertil. Steril., vol. 94, no. 5, pp. 1609–1615, 2010, doi: 10.1016/j.fertnstert.2009.09.035.

[25] J. Cui, Y. Shen, and R. Li, “Estrogen synthesis and signaling pathways during aging: From periphery to brain,” Trends Mol. Med., vol. 19, no. 3, pp. 197–209, 2013, doi: 10.1016/j.molmed.2012.12.007.

[26] C. A. Witz and W. N. Burns, “Endometriosis and infertility: Is there a cause and effect relationship?,” Gynecol. Obstet. Invest., vol. 53, no. SUPPL. 1, pp. 2–11, 2002, doi: 10.1159/000049418.

[27] N. K. Mungreiphy, S. Kapoor, and R. Sinha, “Association between BMI, Blood Pressure, and Age: Study among Tangkhul Naga Tribal Males of Northeast India,” J. Anthropol., vol. 2011, no. September, pp. 1–6, 2011, doi: 10.1155/2011/748147.

[28] S. E. Bulun et al., “Estrogen receptor-?, Estrogen receptor-?, and progesterone resistance in endometriosis,” Semin. Reprod. Med., vol. 28, no. 1, pp. 36–43, 2010, doi: 10.1055/s-0029-1242991.


Article Statistic

Abstract view : 281 times
Fulltext (Bahasa Indonesia) views : 205 times

Dimensions Metrics

How To Cite This :

Refbacks

  • There are currently no refbacks.


Creative Commons License
This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.