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Analyzing the possible involvement of anti-Müllerian hormone and anti-Müllerian hormone receptor II single nucleotide polymorphism in infertility

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

We performed TaqMan genotyping assays of anti-Mullerian hormone (AMH) and anti-Mullerian hormone receptor type II (AMHRII) single nucleotide polymorphisms (SNPs) in order to investigate how their frequency and distribution affect infertility treatment outcome.

Methods

Eighty Japanese women (advanced age: n = 51, endometriosis: n = 18, male infertility as a control: n = 11) who undertook ART were included in the study, and all couples underwent a full infertility investigation protocol. In order to investigate the natural distribution of SNPs, a naturally pregnant group of 28 subjects was recruited from among women who conceived naturally and subsequently delivered in our department. Genomic DNA was extracted from peripheral blood and genotyping was conducted by TaqMan genotyping assay. The relationship of AMH and AMHRII SNPs and treatment outcome in infertile women. Comparison of allele and genotype frequencies of infertile patients with naturally pregnant women.

Results

AMHRII −482 A>G homozygote mutation was complicated with ISV 5–6 C>T homozygote mutation and showed a significantly lower oocyte retrieval rate compared with a wild type. Two of 3 cases of AMHRII −482 A>G homozygote mutation were poor responders, and the distribution and frequency of each allele of naturally pregnant women showed no statistical difference compared with infertile women.

Conclusions

This study revealed the possible involvement of AMHRII −482 A>G polymorphism on the malfunction of follicular development in Japanese women.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Osaka Medical College, 2-7 Daigakumachi, Takatsuki, Osaka, 569-8686, Japan

    Yoko Yoshida, Yoshiki Yamashita, Natsuho Saito, Yoshihiro Ono, Hikaru Yamamoto, Yoko Nakamura, Atsushi Hayashi, Yoshito Terai & Masahide Ohmichi

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  1. Yoko Yoshida
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  2. Yoshiki Yamashita
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  3. Natsuho Saito
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  4. Yoshihiro Ono
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  5. Hikaru Yamamoto
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  6. Yoko Nakamura
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  7. Atsushi Hayashi
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  8. Yoshito Terai
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  9. Masahide Ohmichi
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Corresponding author

Correspondence to Yoshiki Yamashita.

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Capsule

AMHRII -482A>G polymorphism may have the potential to cause a malfunction in follicular development

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Yoshida, Y., Yamashita, Y., Saito, N. et al. Analyzing the possible involvement of anti-Müllerian hormone and anti-Müllerian hormone receptor II single nucleotide polymorphism in infertility. J Assist Reprod Genet 31, 163–168 (2014). https://doi.org/10.1007/s10815-013-0134-7

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  • DOI: https://doi.org/10.1007/s10815-013-0134-7

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