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Six polymorphisms on estrogen receptor 1 gene in Japanese, American and German populations

  • Pharmacogenetics
  • Published:
European Journal of Clinical Pharmacology Aims and scope Submit manuscript

Abstract

Objective

Estrogen receptor 1 (ESR1) plays an important role in various estrogen-related diseases, the incidences of which are significantly lower in the Japanese population than in Western populations. We hypothesize that polymorphisms in exon 1 of the ESR1 gene are associated with a lower incidence of estrogen-related diseases in the Japanese population.

Methods

The genetic distributions of six different ESR1 gene polymorphisms were investigated among 200 Japanese, 200 Americans and 112 Germans using a novel sequence-specific polymerase chain reaction (SSP) technique and direct DNA sequencing.

Results

The frequencies of variant genotypes on codons 10 and 87 located on exon 1 were significantly lower in the Japanese population than other populations. The polymorphism on codon 87 was not detected in the Japanese population, although other populations showed the homozygous and heterozygous variant genotype on this codon. Other loci, intron 1, and codons 243 and 594 were not different among these populations.

Conclusions

This is the first report to demonstrate the polymorphisms at codons 10 and 87 of ESR1 are significantly low for the Japanese population. Thus, inherited alterations in ESR1 polymorphisms may be associated with changes of estrogen effects and, thereby, may possibly explain inter-population differences in incidences of estrogen-mediated diseases.

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Authors and Affiliations

  1. Department of Urology, Urology Research Center (112F), University of California, San Francisco and Veterans Affairs Medical Center, 4150 Clement Street, San Francisco, CA 94121, USA

    Masahiro Sasaki, Yuichiro Tanaka, Noriaki Sakuragi & Rajvir Dahiya

Authors
  1. Masahiro Sasaki
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  2. Yuichiro Tanaka
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  3. Noriaki Sakuragi
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  4. Rajvir Dahiya
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Corresponding author

Correspondence to Rajvir Dahiya.

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Sasaki, M., Tanaka, Y., Sakuragi, N. et al. Six polymorphisms on estrogen receptor 1 gene in Japanese, American and German populations. Eur J Clin Pharmacol 59, 389–393 (2003). https://doi.org/10.1007/s00228-003-0609-z

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  • DOI: https://doi.org/10.1007/s00228-003-0609-z

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