BACKGROUND: Although the importance of estrogens in male reproduction is indisputable, little attention has been paid to the role of estrogen receptor (ER) gene mutations in male infertility. Significant correlation between (TA)(n) repeat allelic variants and lumbar bone mineral density was previously observed in the promoter region of the ER alpha gene, indicating that allelic combinations with higher number of (TA)(n) repeats are functionally more active genetic variants. METHODS: We studied the (TA)(n) repeat polymorphism situated in the promoter region of the ER alpha gene in a large group of infertile and normospermic men (n = 347). RESULTS: Although the (TA)(n) polymorphism failed to show a significant association with male infertility, we found a significant effect of this polymorphism on sperm count. In the group of infertile men, the mean TA repeat number and sperm concentration (P = 0.022) and total sperm number (P = 0.043) were inversely correlated, showing an association between higher TA repeat number (genotype A) and lower sperm production. In line with this observation, normospermic subjects with genotype A had a significantly lower mean sperm concentration with respect to men bearing genotype B with shorter TA alleles (P < 0.05) and a lower total sperm count (P < 0.01). CONCLUSIONS: Our data indicate that specific allelic combinations of the ER alpha, which confer a stronger estrogen effect, may negatively influence human spermatogenesis.

Estrogen receptor alpha promoter polymorphism: stronger estrogen action is coupled with lower sperm count / E. GUARDUCCI; F. NUTI; L. BECHERINI; M. ROTONDI; G. BALERCIA; G. FORTI; C. KRAUSZ. - In: HUMAN REPRODUCTION. - ISSN 0268-1161. - STAMPA. - 21:(2006), pp. 994-1001.

Estrogen receptor alpha promoter polymorphism: stronger estrogen action is coupled with lower sperm count

FORTI, GIANNI;KRAUSZ, CSILLA GABRIELLA
2006

Abstract

BACKGROUND: Although the importance of estrogens in male reproduction is indisputable, little attention has been paid to the role of estrogen receptor (ER) gene mutations in male infertility. Significant correlation between (TA)(n) repeat allelic variants and lumbar bone mineral density was previously observed in the promoter region of the ER alpha gene, indicating that allelic combinations with higher number of (TA)(n) repeats are functionally more active genetic variants. METHODS: We studied the (TA)(n) repeat polymorphism situated in the promoter region of the ER alpha gene in a large group of infertile and normospermic men (n = 347). RESULTS: Although the (TA)(n) polymorphism failed to show a significant association with male infertility, we found a significant effect of this polymorphism on sperm count. In the group of infertile men, the mean TA repeat number and sperm concentration (P = 0.022) and total sperm number (P = 0.043) were inversely correlated, showing an association between higher TA repeat number (genotype A) and lower sperm production. In line with this observation, normospermic subjects with genotype A had a significantly lower mean sperm concentration with respect to men bearing genotype B with shorter TA alleles (P < 0.05) and a lower total sperm count (P < 0.01). CONCLUSIONS: Our data indicate that specific allelic combinations of the ER alpha, which confer a stronger estrogen effect, may negatively influence human spermatogenesis.
2006
21
994
1001
E. GUARDUCCI; F. NUTI; L. BECHERINI; M. ROTONDI; G. BALERCIA; G. FORTI; C. KRAUSZ
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/313173
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