Polymorphisms inESR1,ESR2andHSD17B1genes are associated with fertility status in endometriosis

Abstract

Genetic variants in ESR1, ESR2, and HSD17B1 genes could modify susceptibility to endometriosis and might influence the fertility status in endometriosis patients.

Involvement of 17β-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis

“…Our results are contradictory to Lamp et al (2010) who found HSD17B1 A variant as a risk of endometriosis at stage I–II disease, in Estonian population [10]. Our findings are also inconsistent with Tsuchiya et al (2005) who demonstrated contribution of A allele of HSD17B1 to endometriosis at stages III and IV [11].…”

“…The differences between Estonian [10], Japanese [11], and our HSD17B1 937 gene variant association might be due to linkage disequilibrium of rs605059 with an unknown SNP in Polish Caucasian population. Moreover, our study was conducted in selected group of infertile women with endometriosis at stages I and II in which HSD17B1 937 G variant can be a risk of infertility in our evaluated cohort.…”

“…It has been suggested that genetic variants of HSD17B1 , specifically the 937 A>G (rs605059) single nucleotide polymorphism (SNP), may contribute to endometriosis [10, 11]. This transition is located in exon 6 and alters serine to glycine at position 312 [12, 13].…”

“…This transition is located in exon 6 and alters serine to glycine at position 312 [12, 13]. Studies conducted to this day inconsistently demonstrated HSD17B1 937 A>G SNP as a genetic risk factor of endometriosis [10, 11, 14, 15]. Therefore, our study aimed to evaluate the contribution of HSD17B1 937 A>G SNP to infertility in women with endometriosis in the Polish population.…”

Estrogen receptors and human disease: an update

“…In a Korean population, the ER β gene +1730 G/A polymorphism was not associated with endometriosis (Lee et al 2007). SNPs associated with ER α (rs2234693–T/C SNP, dinucleotide (TA)(n) repeat), and ER β (dinucleotide (CA)(n) repeat) revealed ER α longer (TA)(n) repeats correlated with susceptibility to stage I–II endometriosis, and ER β shorter (CA)(n) repeats were linked with endometriosis without infertility (Lamp et al 2011). Two independent studies have confirmed that the ER α gene-397 (T/C) PvuII polymorphism predisposes women to approximately 2.6-fold increase in endometriosis (Hsieh et al 2007; Govindan et al 2009).…”