Associations between <i>ESR1</i> gene intron 1 polymorphisms and premature ovarian failure: a meta-analysis based on case-control studies_West China Medical Journal

Authors：

GAO Rui ^1,2 , CHEN Hanxiao ^1,2 , ZHANG Sirui ² , HU Xiao ² ,  QIN Lang ^1,3

1. The Reproductive Center, Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China;
2. West China School of Medicine, Sichuan University, Chengdu, Sichuan 610041, P. R. China;
3. Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan 610041, P. R. China;

Corresponding author：

QIN Lang, Email: cacier@126.com

Keywords：

Estrogen receptor α; ESR1 gene; Gene polymorphism; Premature ovarian failure

DOI：

10.7507/1002-0179.202004465

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

Objective To explore the associations between estrogen receptor α (ESR1) gene intron 1 PvuⅡ (−397 T/C, rs2334693), XbaⅠ (−351 A/G, rs9340799) polymorphisms and premature ovarian failure (POF).Methods Literature published before February 2021 were retrieved in PubMed, Web of Science, China National Knowledge Infrastructure, Wanfang, and CQVIP databases, according to the inclusion and exclusion criteria developed before. Odds ratio (OR) and 95% confidence interval (CI) were used for data analysis, the Q test and I² statistic were used for heterogeneity analysis. Random-effect model or fixed-effect model was used according to I² value. All analyses were performed by RevMan 5.3 software.Results Six case-control studies were included in this meta-analysis. For the associations between ESR1 gene intron 1 PvuⅡ polymorphisms and POF, there was no statistical difference in TT vs. CC model [OR=0.72, 95%CI (0.31, 1.70), P=0.46], TC vs. CC model [OR=1.09, 95%CI (0.83, 1.43), P=0.54], recessive model [OR=1.08, 95%CI (0.68, 1.70), P=0.74], or dominant model [OR=0.77, 95%CI (0.42, 1.42), P=0.41]. For the associations between ESR1 gene intron 1 XbaⅠ polymorphisms and POF, there was no statistical difference in AA vs. GG model [OR=0.88, 95%CI (0.44, 1.75), P=0.72], AG vs. GG model [OR=1.23, 95%CI (0.84, 1.79), P=0.29], recessive model [OR=1.14, 95%CI (0.81, 1.61), P=0.44], or dominant model [OR=0.75, 95%CI (0.41, 1.35), P=0.34], either. No statistical difference was found in the ethno-based subgroup analyses (P>0.05). Most models had obvious heterogeneities.Conclusions Current evidence can’t confirm the associations between ESR1 gene PvuⅡ, XbaⅠ polymorphisms and POF. High-quality, multi-central and large-sample studies are still necessary to support this conclusion.

Citation： GAO Rui, CHEN Hanxiao, ZHANG Sirui, HU Xiao, QIN Lang. Associations between ESR1 gene intron 1 polymorphisms and premature ovarian failure: a meta-analysis based on case-control studies. West China Medical Journal, 2021, 36(7): 930-939. doi: 10.7507/1002-0179.202004465 Copy

1.	Neumannová H, Müllerová M. Premature ovarian failure. Cas Lek Cesk, 2018, 157(7): 350-353.
2.	Lew R. Natural history of ovarian function including assessment of ovarian reserve and premature ovarian failure. Best Pract Res Clin Obstet Gynaecol, 2019, 55: 2-13.
3.	Bilgin EM, Kovanci E. Genetics of premature ovarian failure. Curr Opin Obstet Gynecol, 2015, 27(3): 167-174.
4.	Persani L, Rossetti R, Cacciatore C, et al. Genetic defects of ovarian TGF-β-like factors and premature ovarian failure. J Endocrinol Invest, 2011, 34(3): 244-251.
5.	Rossetti R, Ferrari I, Bonomi M, et al. Genetics of primary ovarian insufficiency. Clin Genet, 2017, 91(2): 183-198.
6.	Lazaros L, Pamporaki C, Vlahos N, et al. The follicular outcome after standard gonadotropin stimulation is associated with ERα and ERβ genotypes. Endocrine, 2014, 47(3): 930-935.
7.	Westberg L, Baghaei F, Rosmond R, et al. Polymorphisms of the androgen receptor gene and the estrogen receptor beta gene are associated with androgen levels in women. J Clin Endocrinol Metab, 2001, 86(6): 2562-2568.
8.	Kolibianakis EM, Papanikolaou EG, Fatemi HM, et al. Estrogen and folliculogenesis: is one necessary for the other?. Curr Opin Obstet Gynecol, 2005, 17(3): 249-253.
9.	Saceda M, Lippman ME, Chambon P, et al. Regulation of the estrogen receptor in MCF-7 cells by estradiol. Mol Endocrinol, 1988, 2(12): 1157-1162.
10.	Andersen TI, Heimdal KR, Skrede M, et al. Oestrogen receptor (ESR) polymorphisms and breast cancer susceptibility. Hum Genet, 1994, 94(6): 665-670.
11.	Castagnoli A, Maestri I, Bernardi F, et al. PvuⅡ RFLP inside the human estrogen receptor gene. Nucleic Acids Res, 1987, 15(2): 866.
12.	Han SJ, Lee JE, Cho YJ, et al. Genomic function of estrogen receptor β in endometriosis. Endocrinology, 2019, 160(11): 2495-2516.
13.	Tang ZR, Zhang R, Lian ZX, et al. Estrogen-receptor expression and function in female reproductive disease. Cells, 2019, 8(10): 1123.
14.	Hsieh YY, Wang YK, Chang CC, et al. Estrogen receptor alpha-351 XbaⅠG and -397 PvuⅡC-related genotypes and alleles are associated with higher susceptibilities of endometriosis and leiomyoma. Mol Hum Reprod, 2007, 13(2): 117-122.
15.	Singer CF, Kronsteiner N, Marton E, et al. Interleukin-1 system and sex steroid receptor gene expression in human endometrial cancer. Gynecol Oncol, 2002, 85(3): 423-430.
16.	Liu L, Tan R, Cui Y, et al. Estrogen receptor α gene (ESR1) polymorphisms associated with idiopathic premature ovarian failure in Chinese women. Gynecol Endocrinol, 2013, 29(2): 182-185.
17.	Livshyts G, Podlesnaja S, Kravchenko S, et al. Association of PvuⅡ polymorphism in ESR1 gene with impaired ovarian reserve in patients from Ukraine. Reprod Biol, 2013, 13(1): 96-99.
18.	Yoon SH, Choi YM, Hong MA, et al. Estrogen receptor alpha gene polymorphisms in patients with idiopathic premature ovarian failure. Hum Reprod, 2010, 25(1): 283-287.
19.	Stang A. Critical evaluation of the Newcastle-Ottawa scale for the assessment of the quality of nonrandomized studies in meta-analyses. Eur J Epidemiol, 2010, 25(9): 603-605.
20.	Bretherick KL, Hanna CW, Currie LM, et al. Estrogen receptor alpha gene polymorphisms are associated with idiopathic premature ovarian failure. Fertil Steril, 2008, 89(2): 318-324.
21.	Cordts EB, Santos AA, Peluso C, et al. Risk of premature ovarian failure is associated to the PvuⅡ polymorphism at estrogen receptor gene ESR1. J Assist Reprod Genet, 2012, 29(12): 1421-1425.
22.	Li J, Vujovic S, Dalgleish R, et al. Lack of association between ESR1 gene polymorphisms and premature ovarian failure in Serbian women. Climacteric, 2014, 17(3): 247-251.
23.	Yang JJ, Cho LY, Lim YJ, et al. Estrogen receptor-1 genetic polymorphisms for the risk of premature ovarian failure and early menopause. J Womens Health (Larchmt), 2010, 19(2): 297-304.
24.	Dixit SG, Ghatak S, Singh P, et al. Estrogen receptor, progesterone receptor and CD8⁺ expression in endometrium of women of unexplained infertility. J Gynecol Obstet Hum Reprod, 2018, 47(10): 533-537.
25.	Hamilton KJ, Hewitt SC, Arao Y, et al. Estrogen hormone biology. Curr Top Dev Biol, 2017, 125: 109-146.
26.	Patel S, Homaei A, Raju AB, et al. Estrogen: the necessary evil for human health, and ways to tame it. Biomed Pharmacother, 2018, 102: 403-411.
27.	Jiao X, Ke H, Qin Y, et al. Molecular genetics of premature ovarian insufficiency. Trends Endocrinol Metab, 2018, 29(11): 795-807.
28.	Vander Borght M, Wyns C. Fertility and infertility: definition and epidemiology. Clin Biochem, 2018, 62: 2-10.
29.	He M, Shu J, Huang X, et al. Association between estrogen receptora gene (ESR1) PvuⅡ (T/C) and XbaⅠ (A/G) polymorphisms and premature ovarian failure risk: evidence from a meta-analysis. J Assist Reprod Genet, 2015, 32(2): 297-304.
30.	Shelling AN. Premature ovarian failure. Reproduction, 2010, 140(5): 633-641.

1. Neumannová H, Müllerová M. Premature ovarian failure. Cas Lek Cesk, 2018, 157(7): 350-353.
2. Lew R. Natural history of ovarian function including assessment of ovarian reserve and premature ovarian failure. Best Pract Res Clin Obstet Gynaecol, 2019, 55: 2-13.
3. Bilgin EM, Kovanci E. Genetics of premature ovarian failure. Curr Opin Obstet Gynecol, 2015, 27(3): 167-174.
4. Persani L, Rossetti R, Cacciatore C, et al. Genetic defects of ovarian TGF-β-like factors and premature ovarian failure. J Endocrinol Invest, 2011, 34(3): 244-251.
5. Rossetti R, Ferrari I, Bonomi M, et al. Genetics of primary ovarian insufficiency. Clin Genet, 2017, 91(2): 183-198.
6. Lazaros L, Pamporaki C, Vlahos N, et al. The follicular outcome after standard gonadotropin stimulation is associated with ERα and ERβ genotypes. Endocrine, 2014, 47(3): 930-935.
7. Westberg L, Baghaei F, Rosmond R, et al. Polymorphisms of the androgen receptor gene and the estrogen receptor beta gene are associated with androgen levels in women. J Clin Endocrinol Metab, 2001, 86(6): 2562-2568.
8. Kolibianakis EM, Papanikolaou EG, Fatemi HM, et al. Estrogen and folliculogenesis: is one necessary for the other?. Curr Opin Obstet Gynecol, 2005, 17(3): 249-253.
9. Saceda M, Lippman ME, Chambon P, et al. Regulation of the estrogen receptor in MCF-7 cells by estradiol. Mol Endocrinol, 1988, 2(12): 1157-1162.
10. Andersen TI, Heimdal KR, Skrede M, et al. Oestrogen receptor (ESR) polymorphisms and breast cancer susceptibility. Hum Genet, 1994, 94(6): 665-670.
11. Castagnoli A, Maestri I, Bernardi F, et al. PvuⅡ RFLP inside the human estrogen receptor gene. Nucleic Acids Res, 1987, 15(2): 866.
12. Han SJ, Lee JE, Cho YJ, et al. Genomic function of estrogen receptor β in endometriosis. Endocrinology, 2019, 160(11): 2495-2516.
13. Tang ZR, Zhang R, Lian ZX, et al. Estrogen-receptor expression and function in female reproductive disease. Cells, 2019, 8(10): 1123.
14. Hsieh YY, Wang YK, Chang CC, et al. Estrogen receptor alpha-351 XbaⅠ*G and -397 PvuⅡ*C-related genotypes and alleles are associated with higher susceptibilities of endometriosis and leiomyoma. Mol Hum Reprod, 2007, 13(2): 117-122.
15. Singer CF, Kronsteiner N, Marton E, et al. Interleukin-1 system and sex steroid receptor gene expression in human endometrial cancer. Gynecol Oncol, 2002, 85(3): 423-430.
16. Liu L, Tan R, Cui Y, et al. Estrogen receptor α gene (ESR1) polymorphisms associated with idiopathic premature ovarian failure in Chinese women. Gynecol Endocrinol, 2013, 29(2): 182-185.
17. Livshyts G, Podlesnaja S, Kravchenko S, et al. Association of PvuⅡ polymorphism in ESR1 gene with impaired ovarian reserve in patients from Ukraine. Reprod Biol, 2013, 13(1): 96-99.
18. Yoon SH, Choi YM, Hong MA, et al. Estrogen receptor alpha gene polymorphisms in patients with idiopathic premature ovarian failure. Hum Reprod, 2010, 25(1): 283-287.
19. Stang A. Critical evaluation of the Newcastle-Ottawa scale for the assessment of the quality of nonrandomized studies in meta-analyses. Eur J Epidemiol, 2010, 25(9): 603-605.
20. Bretherick KL, Hanna CW, Currie LM, et al. Estrogen receptor alpha gene polymorphisms are associated with idiopathic premature ovarian failure. Fertil Steril, 2008, 89(2): 318-324.
21. Cordts EB, Santos AA, Peluso C, et al. Risk of premature ovarian failure is associated to the PvuⅡ polymorphism at estrogen receptor gene ESR1. J Assist Reprod Genet, 2012, 29(12): 1421-1425.
22. Li J, Vujovic S, Dalgleish R, et al. Lack of association between ESR1 gene polymorphisms and premature ovarian failure in Serbian women. Climacteric, 2014, 17(3): 247-251.
23. Yang JJ, Cho LY, Lim YJ, et al. Estrogen receptor-1 genetic polymorphisms for the risk of premature ovarian failure and early menopause. J Womens Health (Larchmt), 2010, 19(2): 297-304.
24. Dixit SG, Ghatak S, Singh P, et al. Estrogen receptor, progesterone receptor and CD8⁺ expression in endometrium of women of unexplained infertility. J Gynecol Obstet Hum Reprod, 2018, 47(10): 533-537.
25. Hamilton KJ, Hewitt SC, Arao Y, et al. Estrogen hormone biology. Curr Top Dev Biol, 2017, 125: 109-146.
26. Patel S, Homaei A, Raju AB, et al. Estrogen: the necessary evil for human health, and ways to tame it. Biomed Pharmacother, 2018, 102: 403-411.
27. Jiao X, Ke H, Qin Y, et al. Molecular genetics of premature ovarian insufficiency. Trends Endocrinol Metab, 2018, 29(11): 795-807.
28. Vander Borght M, Wyns C. Fertility and infertility: definition and epidemiology. Clin Biochem, 2018, 62: 2-10.
29. He M, Shu J, Huang X, et al. Association between estrogen receptora gene (ESR1) PvuⅡ (T/C) and XbaⅠ (A/G) polymorphisms and premature ovarian failure risk: evidence from a meta-analysis. J Assist Reprod Genet, 2015, 32(2): 297-304.
30. Shelling AN. Premature ovarian failure. Reproduction, 2010, 140(5): 633-641.

West China Medical Journal

Associations between ESR1 gene intron 1 polymorphisms and premature ovarian failure: a meta-analysis based on case-control studies

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Next Article

Format

Content