Role of ESR1 PvuII T/C variant in female reproductive process: A review

Document Type : Review Paper


Medical Biology Research Center, Health Technology Institute, Kermanshah University of Medical Sciences, Kermanshah, Iran


Estrogen hormone is involved in the process of reproduction by banding to estrogen receptors (ERs). The findings of previous studies showed the association of a common variant, PvuII T/C (rs 2234693), in ESR1 gene with different aspects of reproductive process in women. Thus, the present review focused on effect of this genetic variant on reproductive process in females. The results demonstrated that the variant of ESR1 PvuII T/C (rs 2234693) could be associated with numbers of collected oocyte, maturation and embryo quality, spontaneous abortions, pregnancy rate following in vitro manipulations, preeclampsia, predisposition to endometriosis and infertility. In conclusion, the present study suggested that ESR1 PvuII T/C (rs 2234693) variant might play an important role in potential of females fertility given to the various ethnic backgrounds. Nonetheless, further studies are required in order to determine the more exact role of this variant in the infertility of women.

Graphical Abstract

Role of ESR1 PvuII T/C variant in female reproductive process: A review


  • Estrogen hormone via its receptors (ERs) plays an important role in reproductive functions.
  • PvuII T/C (rs 2234693) is a common genetic variant in ESR1 gene.
  • PvuII T/C (rs 2234693) variant is related to the female reproductive functions.
  • This genetic variant might have a significant role in the potential of females fertility.


Main Subjects

Brugo-Olmedo S, Chillik C, Kopelman S. Definition and causes of infertility. Reprod Biomed online 2001; 2(1): 173-185.
Jodeiryzaer S, Farsimadan M, Abiri A, Sharafshah A, Vaziri H. Association of oestrogen receptor alpha gene SNPs Arg157Ter C> T and Val364Glu T> A with female infertility. Br J Biomed Sci 2020; 77(4): 216-218.
Saunders PT. Does estrogen receptor β play a significant role in human reproduction?. Trends Endocrinol Metab 2005; 16(5): 222-227.
Ayvaz OU, Ekmekçi A, Baltacı V, Onen Hİ, Ünsal E. Evaluation of in vitro fertilization parameters and estrogen receptor alpha gene polymorphisms for women with unexplained infertility. J Assist Reprod Genet 2009; 26(9-10): 503-510.
Jakimiuk A, Nowicka M, Bogusiewicz M, Adamiak A, Skorupski P, Miotla P, Rechberger T, Haczynski J. Prevalence of estrogen receptor alpha PvuII and XbaI polymorphism in population of Polish postmenopausal women. Folia Histochem Cyto 2007; 45(4): 331-338.
Swaminathan M, Ganesh V, Koshy T, Venugopal P, Paul S, Venkatesan V. A study on the role of estrogen receptor gene polymorphisms in female infertility. Genet Test Mol Biomarkers 2016; 20(11): 692-695.
Riva A, Kohane IS. SNPper: retrieval and analysis of human SNPs. Bioinformatics 2002; 18(12): 1681-1685.
Ahmed S, Zhou Z, Zhou J, Chen SQ. Pharmacogenomics of drug metabolizing enzymes and transporters: relevance to precision medicine. Genom Proteome Bioinf 2016; 14(5): 298-313.
Molvarec A, Ver A, Fekete A, Rosta K, Derzbach L, Derzsy Z, Karádi I, Rigó J. Association between estrogen receptor α (ESR1) gene polymorphisms and severe preeclampsia. Hypertension Res 2007; 30(3): 205-211.
Lamp M, Peters M, Reinmaa E, Haller-Kikkatalo K, Kaart T, Kadastik Ü, Karro H, Metspalu A, Salumets A. Polymorphisms in ESR1, ESR2 and HSD17B1 genes are associated with fertility status in endometriosis. Gynecol Endocrinol 2011; 27(6): 425-433.
Guo H, Ming J, Liu C, Li Z, Zhang N, Cheng H, Wang W, Shi W, Shen N, Zhao Q, Li D. A common polymorphism near the ESR1 gene is associated with risk of breast cancer: evidence from a case-control study and a meta-analysis. PloS one 2012; 7(12): e52445.
De Mattos CS, Trevisan CM, Peluso C, Adami F, Cordts EB, Christofolini DM, Barbosa CP, Bianco B. ESR1 and ESR2 gene polymorphisms are associated with human reproduction outcomes in Brazilian women. J Ovarian Res 2014; 7(1): 114.
Ganesh V, Venkatesan V, Koshy T, Reddy SN, Muthumuthiah S, Paul SF. Association of estrogen, progesterone and follicle stimulating hormone receptor polymorphisms with in vitro fertilization outcomes. Syst Biol Reprod Med 2018; 64(4): 260-265.
Boudjenah R, Molina-Gomes D, Torre A, Bergere M, Bailly M, Boitrelle F, Taieb S, Wainer R, Benahmed M, De Mazancourt P, Selva J. Genetic polymorphisms influence the ovarian response to rFSH stimulation in patients undergoing in vitro fertilization programs with ICSI. PloS one 2012; 7(6): e38700.
Song D, Huang XL, Hong L, Yu JM, Zhang ZF, Zhang HQ, Sun ZG, Du J. Sequence variants in FSHR and CYP19A1 genes and the ovarian response to controlled ovarian stimulation. Fertil Steril 2019; 112(4): 749-757.
Asgari R, Mansouri K, Bakhtiari M, Bidmeshkipour A, Yari K, Shaveisi-Zadeh F, Vaisi-Raygani A. Association of FAS-670A/G and FASL-844C/T polymorphisms with idiopathic azoospermia in Western Iran. Eur J Obstet Gynecol Reprod Biol 2017; 218: 55-59.
Asgari R, Mansouri K, Bakhtiari M, Mozafari H, Roshankhah S. Association between the FAS/FASL Variants and Risk of Male Infertility in Asian Populations; A Systematic Review and Meta-Analysis. Medicina 2019; 55(6): 247.
Baye TM, Abebe T, Wilke RA. Genotype–environment interactions and their translational implications. Pers Med 2011; 8(1): 59-70.