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

Autor: Natsuho Saito, Yoko Yoshida, Yoko Nakamura, Hikaru Yamamoto, Yoshiki Yamashita, Yoshito Terai, Atsushi Hayashi, Masahide Ohmichi, Yoshihiro J. Ono
Rok vydání: 2013
Předmět:
Zdroj: Journal of Assisted Reproduction and Genetics. 31:163-168
ISSN: 1573-7330
1058-0468
DOI: 10.1007/s10815-013-0134-7
Popis: 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.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.AMHRII -482 AG homozygote mutation was complicated with ISV 5-6 CT homozygote mutation and showed a significantly lower oocyte retrieval rate compared with a wild type. Two of 3 cases of AMHRII -482 AG 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.This study revealed the possible involvement of AMHRII -482 AG polymorphism on the malfunction of follicular development in Japanese women.
Databáze: OpenAIRE
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