Association of oestrogen receptor α polymorphisms and androgen receptor CAG trinucleotide repeats with male infertility: a study in 109 Greek infertile men

Kukuvitis, Asterios; Georgiou, Ioannis; Bouba, Ioanna; Tsirka, Antigoni; Ch, Giannouli; Yapijakis, Christos; Tarlatzis, Basil C.; Bontis, J.; Lolis, D.; Sofikitis, Nikolaos; Papadimas, J.

doi:10.1046/j.1365-2605.2002.00339.x

Cited by 70 publications

(68 citation statements)

References 18 publications

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“…The association between male infertility and ERα and ERβ gene polymorphisms has been explored in several studies that have produced conflicting results (Kukuvitis et al, 2002;Suzuki et al, 2002;Aschim et al, 2005;Lazaros et al, 2010). For example, PvuII and XbaI in ERα have been associated with azoospermia or severe oligozoospermia in 2 reports (Kukuvitis et al, 2002;Suzuki et al, 2002), but others have drawn different conclusions (Tuttelmann et al, 2007;Lazaros et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

Influence of the XbaI polymorphism in the estrogen receptor-α gene on human spermatogenic defects

Meng¹,

Mu²,

Wang³

2013

Genet. Mol. Res.

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ABSTRACT. Polymorphisms of estrogen receptor (ER) genes have been implicated in male infertility, but studies of this association have produced conflicting results. The present study was conducted to examine whether polymorphisms within the ERα and ERβ genes are susceptibility factors for human male idiopathic infertility in Chinese men. We investigated the association between the ERα gene and PvuII and XbaI polymorphisms and the ERβ gene and RsaI and AluI polymorphisms and idiopathic male infertility in Han Chinese men. A total of 204 men with oligozoospermia (sperm count <20 x 10 6 /mL) or azoospermia and 252 fertile control men were included in this study. The analysis revealed a strong association between the XbaI genotype distribution and impaired spermatogenesis (P = 0.0018). The frequency of the G allele was significantly lower in patients than in controls (P = 0.003). Furthermore, serum levels of follicle-stimulating hormone and luteinizing hormone in XbaI AA carriers were significantly higher than those in AG or GG carriers. Our findings further support a possible role of ERα in male infertility. Further studies are needed to replicate our Estrogen-α gene influence on human spermatogenic defects findings, as well as to elucidate more fully the biological mechanisms of the modulation of ERα on human spermatogenesis.

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Section: Introductionmentioning

confidence: 99%

Influence of the XbaI polymorphism in the estrogen receptor-α gene on human spermatogenic defects

Meng¹,

Mu²,

Wang³

2013

Genet. Mol. Res.

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“…ESR1 PvuII polymorphism in women was found to affect pregnancy rate following in vitro fertilization (IVF) [7,8], whereas in males ESR1 XbaI polymorphism was suggested to have an effect on azoospermia or idiopathic severe oligospermia [9].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of in vitro fertilization parameters and estrogen receptor alpha gene polymorphisms for women with unexplained infertility

Ayvaz

Ekmekçi

Baltacı

et al. 2009

J Assist Reprod Genet

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Purpose Association of ESR1 gene PvuII, XbaI and (TA)n microsatellite polymorphisms and woman infertility was evaluated. Methods Infertile(n=104) and fertile(n=107) women were included in this study. We performed polymerase chain reaction-restriction fragment-length polymorphism analysis for detecting ESR1 polymorphisms. Result(s) PvuII and XbaI polymorphisms confered risk for infertility in a simple dominant manner in which a significant relationship was observed between infertile and control women. Infertile women had fewer(<18) short repeat alleles in promotor region. ESR1 genotypes were compared concerning maturation, fertilization, pregnancy rates and embryo quality. Although no difference was found in terms of pregnancy rates, maturation and fertilization rates were significantly smaller in pp and xx genotypes. Also, pp genotypes had significantly lower number of good quality embryos. Long TA repeat in promotor was found to be associated with low fertilization rate. Conclusion(s) Polymorphisms at the ESR1 gene are associated with infertility in this Turkish infertile women population.

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“…This finding was then corroborated by several studies from a variety of different ethnic populations including Japanese, Caucasian, North American, French, Israeli, Taiwanese and Spanish (Yoshida et al 1999;Dowsing et al 1999;Mifsud et al 2001;Wallerand et al 2001;Patrizio et al 2001;Madgar et al 2002;Pan et al 2002;Casella et al 2003;Asatiani et al 2003;Mengual et al 2003). However, several others, who have investigated Swedish, Belgian, German, Japanese, Danish, Dutch, Indian, Greek, New Zealander, Finish, Hong Kong Chinese and Italian populations were unable to demonstrate an association (Giwercman et al 1998;Legius et al 1999;Hiort et al 1999;Dadze et al 2000;Sasagawa et al 2000Sasagawa et al , 2001Von Eckardstein et al 2001;Yu and Handelsman 2001;Kukuvitis et al 2002;Rajpert-De Meyts et al 2002;Van Golde et al 2002;Thangaraj et al 2002;Dhillon and Husain 2003;Erasmuson et al 2003;Lund et al 2003;Tse et al 2003;Ferlin et al 2004). Interestingly, a study by Komori et al (1999) has suggested that reduction rather than expansion of the CAG repeat (< 16 repeats) is closely related to impaired sperm production in an infertile Japanese population.…”

Section: Discussionmentioning

confidence: 87%

“…decade (Tut et al 1997;Yoshida et al 1999;Dowsing et al 1999;Mifsud et al 2001;Patrizio et al 2001;Wallerand et al 2001;Madgar et al 2002;Pan et al 2002;Asatiani et al 2003;Casella et al 2003;Mengual et al 2003), whereas several others were unable to demonstrate an association (Giwercman et al 1998;Hiort et al 1999;Legius et al 1999;Dadze et al 2000;Sasagawa et al 2000Sasagawa et al , 2001Von Eckardstein et al 2001;Yu and Handelsman 2001;Rajpert-De Meyts et al 2002;Van Golde et al 2002;Thangaraj et al 2002;Kukuvitis et al 2002;Erasmuson et al 2003;Dhillon and Husain 2003;Lund et al 2003;Tse et al 2003;Ferlin et al 2004). Thus, the ethnic background of the population studied may play an important role in the correlation between CAG repeat length and male infertility.…”

mentioning

confidence: 99%

No Association of the CAG Repeat Length in Exon 1 of the Androgen Receptor Gene with Idiopathic Infertility in Turkish Men: Implications and Literature Review

Tufan

Şatıroğlu-Tufan

Aydınuraz³

et al. 2005

Tohoku J. Exp. Med.

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While the correlation between the CAG repeat length of the androgen receptor (AR) gene and idiopathic male infertility is still unclear, ethnic background of the population studied may play an important role in this association. The objective of this study was to determine whether changes in the CAG repeat length are associated with spermatogenic defects in Turkish infertile men. Reproductive hormone concentrations and the CAG repeat length in exon 1 of the AR gene in 47 idiopathic infertile men and 32 fertile controls were analyzed. The mean serum luteinising hormone (LH) and follicle stimulating hormone (FSH) levels were significantly higher in the infertile group than those of the control group (p < 0.0001 for both comparisons), whereas the mean serum testosterone level in the infertile group did not differ significantly from that in the control group (p = 0.16). The mean CAG repeat length of the AR gene in the infertile group did not differ significantly from that in the control group (22.28 ± 0.37 vs 22.41 ± 0.54, respectively; p = 0.84). In addition, the frequency of having a CAG repeat number ( 24) was also comparable between the infertile patients and fertile controls (31.9% vs 40.6%, respectively; p = 0.21). In conclusion, reproductive hormones with elevated LH and FSH, and normal or low testosterone levels were suggestive of partial impairment of testicular function. However, no statistically significant relationship between the length of the CAG repeat and idiopathic impaired sperm production was observed in the Turkish population studied. These results support the findings of previously published European studies, but are contrary to the findings from Caucasian and North American population studies. Thus, ethnicity and genetic backgrounds seem to be important in this association, and studies from a variety of different ethnic and genetic backgrounds using

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Association of oestrogen receptor α polymorphisms and androgen receptor CAG trinucleotide repeats with male infertility: a study in 109 Greek infertile men

Cited by 70 publications

References 18 publications

Influence of the XbaI polymorphism in the estrogen receptor-α gene on human spermatogenic defects

Influence of the XbaI polymorphism in the estrogen receptor-α gene on human spermatogenic defects

Evaluation of in vitro fertilization parameters and estrogen receptor alpha gene polymorphisms for women with unexplained infertility

No Association of the CAG Repeat Length in Exon 1 of the Androgen Receptor Gene with Idiopathic Infertility in Turkish Men: Implications and Literature Review

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