Anti-Mllerian hormone and anti-Mllerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women

Authors: Kevenaar, Marlies E.; Themmen, Axel P.N.; Laven, Joop S.E.; Sonntag, Barbara; Fong, Sharon Lie; Uitterlinden, Andr G.; de Jong, Frank H.; Pols, Huibert A.P.; Simoni, Manuela; Visser, Jenny A.

Source: Human Reproduction, Volume 22, Number 6, 5 June 2007 , pp. 1547-1554(8)

Publisher: Oxford University Press

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Abstract:

BACKGROUND

In mice, anti-Mllerian hormone (AMH) inhibits primordial follicle recruitment and decreases FSH sensitivity. Little is known about the role of AMH in human ovarian physiology. We hypothesize that in women AMH has a similar role in ovarian function as in mice and investigated this using a genetic approach.

METHODS

The association of the AMH Ile49Ser and the AMH type II receptor (AMHR2) 482 A > G polymorphisms with menstrual cycle characteristics was studied in a Dutch (n 32) and a German (n 21) cohort of normo-ovulatory women.

RESULTS

Carriers of the AMH Ser49 allele had higher serum estradiol (E2) levels on menstrual cycle day 3 when compared with non-carriers in the Dutch cohort (P 0.012) and in the combined Dutch and German cohort (P 0.03). Carriers of the AMHR2 482G allele also had higher follicular phase E2 levels when compared with non-carriers in the Dutch cohort (P 0.028), the German cohort (P 0.048) and hence also the combined cohort (P 0.012). Women carrying both AMH Ser49 and AMHR2 482G alleles had highest E2 levels (P 0.001). For both polymorphisms no association with serum AMH or FSH levels was observed.

CONCLUSIONS

Polymorphisms in the AMH and AMHR2 genes are associated with follicular phase E2 levels, suggesting a role for AMH in the regulation of FSH sensitivity in the human ovary.

Keywords: anti-Mllerian hormone; estrogen; menstrual cycle; ovarian function; polymorphism

Document Type: Research article

DOI: http://dx.doi.org/10.1093/humrep/dem036

Publication date: 2007-06-05

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  • Human Reproduction features full-length, peer-reviewed papers reporting original research, clinical case histories, as well as opinions and debates on topical issues. Papers published cover the scientific and medical aspects of reproductive physiology and pathology, endocrinology, andrology, gonad function, gametogenesis, fertilization, embryo development, implantation, pregnancy, genetics, genetic diagnosis, oncology, infectious disease, surgery, contraception, infertility treatment, psychology, ethics and social issues. The highest scientific and editorial standard is maintained throughout the journal along with a rapid rate of publication.

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