Hum. Reprod. Advance Access originally published online on November 10, 2006
Human Reproduction 2007 22(2):444-449; doi:10.1093/humrep/del391
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Molecular analysis of estrogen receptor alpha gene AGATA haplotype and SNP12 in European populations: potential protective effect for cryptorchidism and lack of association with male infertility
1 Department of Structural Genomics, Neocodex S.L., Seville, Spain 2 Andrology Unit, Department of Clinical Physiopathology, Center for Research, Transfer and Higher Education on Chronic, Inflammatory, Degenerative and Neoplastic Disorders, University of Florence, Florence, Italy 3 Centro Avanzado de Fertilidad (CAF), Jerez, Cadiz, Spain and 4 Centro de Reproduccion Asistida (CREA), Valencia, Spain
5 To whom correspondence should be addressed at: Andrology Unit, Department of Clinical Physiopathology, Center for Research, Transfer and Higher Education on Chronic, Inflammatory, Degenerative and Neoplastic Disorders, University of Florence, Viale Pieraccini, 6, Florence 50139, Italy. E-mail: c.krausz{at}dfc.unifi.it
BACKGROUND: A specific haplotype (AGATA) in the estrogen receptor alpha (ER1) gene was recently described as a new risk factor for cryptorchidism in the Japanese population. In this ethnic group, single-nucleotide polymorphism 12 (SNP12) was concluded to be the tag SNP for the AGATA haplotype. MATERIALS AND METHODS: A large group of patients (total number = 335) and controls (total number = 567) of two Caucasian populations were analysed for the AGATA haplotype and SNP12 to verify whether this genetic variant and its tag SNP were associated with cryptorchidism or with severe spermatogenic failure. RESULTS: We confirm that SNP12 is the tag SNP for the AGATA haplotype also in Caucasians. However, in contrast with the Japanese population we found a protective effect for ESR1 SNP12 on cryptorchidism in the Italian population. No association between SNP12 and severe spermatogenic disturbances was observed. CONCLUSIONS: The observed associations (although with opposite effect) with cryptorchidism encourage future studies on independent cases and controls from different ethnic and geographic origins. On the other hand, in contrast with other ESR1 polymorphisms, SNP12 polymorphism is not associated with severe male factor infertility in two independent European population.
Key words: estrogen receptor/cryptorchidism/male infertility/AGATA haplotype
* These authors have contributed equally to the study, and they should be regarded as joint first authors.
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