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RsaI polymorphisms of ER-β and Idiopathic Male Infertility

Kyong-jin Ju, Chung-hyok Paek, Jin-hui Pak, Tae-yong Jon, Ju-hyon Pak


Purpose: Study on association between estrogen receptor gene polymorphism and male infertility has been interested, but highly specific genetic markers have been reported to be variable according to regions and nations. Herein we studied to figure out whether ERβ gene1082 G>A polymorphism could influence on sperm indices or not.

Method: We dealt with 100 Korean patients with idiopathic male infertility diagnosed at our university hospital as a study group and 127 fertile control Korean men with at least one child as control group. Genomic DNA was isolated from 5ml peripheral blood. Polymerase chain reaction (PCR) was performed to detect the ERβ gene polymorphism 1082 G>A. The PCR product was subjected to electrophoresis. The assessment of sperm indices was performed as recommended by the World Health Organization’s 5th recommendations (2010).

Result: The frequencies of RsaI GA genotypes and A allele were significantly higher in patients with idiopathic male infertility than healthy controls (P<0.05). The frequencies of RsaI GA genotypes and A allele were significantly higher in patients with azoospermia (0 spermatozoa) compared with 5~10 x106 spermatozoa/ml (P<0.01). Patients were divided into three subgroups(<15%, 15~30%, >30%) according to percentage of normal form of sperm. The frequency of the heterozygous GA genotype in patient with <15% subgroup was significantly higher than cases with >30% one (p<0.05).

Conclusion: RsaI polymorphism in ER-β is associated with idiopathic male infertility.


Estrogen, gene, polymorphism, idiopathic male infertility

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