Document Detail

Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities.
MedLine Citation:
PMID:  17283037     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: We have recently suggested that homozygosity for a specific 'AGATA' haplotype within a approximately 50 kb linkage disequilibrium (LD) block of the gene for estrogen receptor alpha (ESR1) may raise the susceptibility to cryptorchidism by enhancing estrogenic effects of environmental endocrine disruptors (EEDs).
METHODS: Haplotype analysis of ESR1 was performed in 328 Japanese subjects, i.e. 70 patients with micropenis (MP), 43 patients with hypospadias (HS), 80 patients with spermatogenic failure (SF) and 135 control males. Genotyping was performed by the 5' nuclease assay.
RESULTS: The LD block was identified in each of the patient groups and in the control males. The frequency of homozygotes for the specific 'AGATA' haplotype was markedly higher in the HS patients [P = 0.0000033, odds ratio [OR] = 11.26] and slightly higher in the MP patients (P = 0.034, OR = 3.64) than in the control males, and the 'AGATA' haplotype was strongly associated with HS (P = 0.0000022, OR = 11.26) and weakly associated with MP (P = 0.040, OR = 3.64) in a recessive mode. There was no significant difference between the SF patients and the control males.
CONCLUSIONS: Our results support the hypothesis that homozygosity for the specific ESR1 'AGATA' haplotype may increase the susceptibility to the development of male genital abnormalities in response to estrogenic EEDs.
Masanori Watanabe; Rie Yoshida; Katsuhiko Ueoka; Katsuya Aoki; Isoji Sasagawa; Tomonobu Hasegawa; Kou Sueoka; Naoyuki Kamatani; Yasunori Yoshimura; Tsutomu Ogata
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-02-05
Journal Detail:
Title:  Human reproduction (Oxford, England)     Volume:  22     ISSN:  0268-1161     ISO Abbreviation:  Hum. Reprod.     Publication Date:  2007 May 
Date Detail:
Created Date:  2007-04-19     Completed Date:  2007-07-09     Revised Date:  2011-04-21    
Medline Journal Info:
Nlm Unique ID:  8701199     Medline TA:  Hum Reprod     Country:  England    
Other Details:
Languages:  eng     Pagination:  1279-84     Citation Subset:  IM    
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan.
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MeSH Terms
Asian Continental Ancestry Group / genetics
Azoospermia / genetics
Child, Preschool
Endocrine Disruptors / adverse effects
Estrogen Receptor alpha / genetics*
Hypospadias / genetics*
Infant, Newborn
Infertility, Male / genetics*
Linkage Disequilibrium / genetics
Middle Aged
Oligospermia / genetics
Penis / abnormalities*
Polymorphism, Single Nucleotide
Spermatogenesis / genetics*
Reg. No./Substance:
0/Endocrine Disruptors; 0/Estrogen Receptor alpha; 0/estrogen receptor alpha, human

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