{"paper_id":"37828d94-39df-4dde-a359-b4d09a035ada","body_text":"Abstract\nPurpose\nWe 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.\nMethods\nEighty 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.\nResults\nAMHRII −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.\nConclusions\nThis study revealed the possible involvement of AMHRII −482 A>G polymorphism on the malfunction of follicular development in Japanese women.\nSimilar content being viewed by others\nReferences\nvan Rooij IA, Broekmans FJ, Scheffer GJ, Looman CW, Habbema JD, de Jong FH, et al. Serum antimullerian hormone levels best reflect the reproductive decline with age in normal women with proven fertility: a longitudinal study. 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Proc Int Conf Intell Syst Mol Biol. 1997;5:2.\nAuthor information\nAuthors and Affiliations\nCorresponding author\nAdditional information\nCapsule\nAMHRII -482A>G polymorphism may have the potential to cause a malfunction in follicular development\nRights and permissions\nAbout this article\nCite this article\nYoshida, 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\nReceived:\nAccepted:\nPublished:\nIssue date:\nDOI: https://doi.org/10.1007/s10815-013-0134-7","source_license":"public-domain-us","license_restricted":false}