• PMID: 17916182
• Gene Name: ESR2
• Condition: Male infertility
• Association: The results revealed no significant difference in the distribution of CA repeat length between infertile and fertile men. Similarly, RsaI polymorphism also did not show any significant difference between infertile and fertile men
• Mutation: RsaI polymorphism (rs1256049) in exon 5 of Erbeta, CA repeat located in the flanking region of Erbeta
• Population size: 695
• Population details: 695 (443 infertile, 252 fertile men)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

CA repeat and RsaI polymorphisms in ERbeta gene are not associated with infertility in Indian men

Khattri A, Pandey RK, Gupta NJ, Chakravarty B, Deendayal M, Singh L, Thangaraj K.

Oestrogen Receptor beta (ERbeta) gene plays an important role in the regulation of fertility in both males and females. Polymorphism in CA repeat located in the flanking region of ERbeta has been shown to be associated with several diseases, but its association with male infertility has not been analysed so far. However, RsaI polymorphism (rs1256049) in exon 5 of ERbeta has been shown to be associated with male infertility in Caucasian patients. Hence, we have analysed 695 Indian men, including 443 infertile and 252 fertile men to evaluate the association of CA repeat length and RsaI polymorphisms in male infertility. Our results revealed no significant difference in the distribution of CA repeat length between infertile (mean +/- SD 23.24 +/- 2.06, median 24) and fertile men (mean +/- SD 23.16 +/- 2.27, median 24). The analysis of dosage effect by classifying samples into SS (short/short), SL (short/long) and LL (long/long) groups also did not show any significant difference between infertile and fertile men. Similarly, RsaI polymorphism also did not show any significant difference between infertile and fertile men. Furthermore, the combined analysis of CA repeat and RsaI polymorphisms by haplotyping showed that the distribution of haplotypes was not significantly different between fertile and infertile men. Our results suggest that CA repeat length and RsaI polymorphisms in ERbeta are not associated with infertility in Indian men. FAU - Khattri, A AU - Khattri A AD - Centre for Cellular and Molecular Biology, Hyderabad, India. FAU - Pandey, R K AU - Pandey RK FAU - Gupta, N J AU - Gupta NJ FAU - Chakravarty, B AU - Chakravarty B FAU - Deendayal, M AU - Deendayal M FAU - Singh, L AU - Singh L