• PMID: 22622360
• Gene Name: ESR2
• Condition: Spermatogenic failure
• Association: The results, in conjunction with our previous data indicating lack of a susceptibility factor on ESR1 encoding ER?, imply that the specific 'TGTAGA' haplotype of ESR2 raises the susceptibility to the development of SF.
• Population size: 244
• Population details: 244 (125 men with spermatogenic failure, 119 age-matched control males)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Spermatogenetic failure

Haplotype analysis of ESR2 in Japanese patients with spermatogenic failure

Ogata T, Fukami M, Yoshida R, Nagata E, Fujisawa Y, Yoshida A, Yoshimura Y.

The prevalence of spermatogenic failure (SF) has gradually increased during the past few decades at least in several countries. Although multiple factors would be involved in this phenomenon, one important factor would be excessive estrogen effects via estrogen receptors (ERs). Thus, we performed haplotype analysis of ESR2 encoding ERβ in 125 Japanese SF patients and 119 age-matched control males, using single nucleotide polymorphisms (SNPs) 1-9 that are widely distributed on the ~120-kb genomic sequence of ESR2. Consequently, a linkage disequilibrium (LD) block was detected in an ~60-kb region encompassing SNPs 2-7 in both groups, and four major estimated haplotypes were identified within the LD block. Furthermore, the most prevalent 'TGTAGA' haplotype was found to be significantly associated with SF, with the P-value obtained by the Cochran-Armitage trend test (0.0029) being lower than that obtained by a 100 000-times permutation test (0.0038) to cope with the problem of multiple comparisons. The results, in conjunction with our previous data indicating lack of a susceptibility factor on ESR1 encoding ERα, imply that the specific 'TGTAGA' haplotype of ESR2 raises the susceptibility to the development of SF. FAU - Ogata, Tsutomu AU - Ogata T AD - Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan. tomogata@hama-med.ac.jp FAU - Fukami, Maki AU - Fukami M FAU - Yoshida, Rie AU - Yoshida R FAU - Nagata, Eiko AU - Nagata E FAU - Fujisawa, Yasuko AU - Fujisawa Y FAU - Yoshida, Atsumi AU - Yoshida A