title: Polymorphisms of anti-Müllerian hormone signaling pathway in healthy Singapore women: population differences, endocrine effects and reproductive outcomes.
abstract: In order to study the association of genetic polymorphisms of anti-Müllerian hormone (AMH) signaling pathway with endocrine changes and pregnancy outcomes, a total of 213 women of reproductive ages were recruited according to our inclusion and exclusion criteria between November 2011 and September 2014 in Singapore. Genotyping studies were performed using a minor groove binder primer/probe Taqman assay. The allele frequencies of the AMH Ile(49)Ser and AMHR2 -482A > G polymorphisms were analyzed in relation to female reproductive hormone levels, ovarian parameters, menstrual cycle lengths and pregnancy outcomes. AMH Ser allele frequency and AMHR2 G allele frequency of our Singapore population were compared with those of other populations reported in HapMap. The genotype distributions and allele frequencies for the AMH Ile(49)Ser and AMHR2 -482A > G polymorphisms were not associated with estradiol (E2) levels, ovarian parameters, menstrual cycle length, or pregnancy outcomes in our cohort. Our findings suggest that genetic variants in the AMH signal transduction pathway have population differences but do not appear to have significant effects on ovarian, endocrine, metabolic parameters and reproductive outcomes.
authors.affiliation: a Department of Obstetrics & Gynaecology , Yong Loo Lin School of Medicine, National University of Singapore , Singapore and.|b Duke-National University of Singapore Graduate Medical School , Singapore.
authors.forename: Esther Dawen
authors.initials: ED
authors.lastname: Yu
authors.affiliation: a Department of Obstetrics & Gynaecology , Yong Loo Lin School of Medicine, National University of Singapore , Singapore and.
authors.forename: Huili
authors.initials: H
authors.lastname: Zhu
authors.affiliation: a Department of Obstetrics & Gynaecology , Yong Loo Lin School of Medicine, National University of Singapore , Singapore and.
authors.forename: Yu
authors.initials: Y
authors.lastname: Li
authors.affiliation: a Department of Obstetrics & Gynaecology , Yong Loo Lin School of Medicine, National University of Singapore , Singapore and.
authors.forename: Seok Eng
authors.initials: SE
authors.lastname: Chua
authors.affiliation: a Department of Obstetrics & Gynaecology , Yong Loo Lin School of Medicine, National University of Singapore , Singapore and.
authors.forename: Inthrani Raja
authors.initials: IR
authors.lastname: Indran
authors.affiliation: a Department of Obstetrics & Gynaecology , Yong Loo Lin School of Medicine, National University of Singapore , Singapore and.
authors.forename: Jun
authors.initials: J
authors.lastname: Li
authors.affiliation: a Department of Obstetrics & Gynaecology , Yong Loo Lin School of Medicine, National University of Singapore , Singapore and.
authors.forename: Eu-Leong
authors.initials: EL
authors.lastname: Yong
mesh_terms: D000328:Adult; D054304:Anti-Mullerian Hormone / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006728:Hormones / Q000097:blood; D006801:Humans; D008597:Menstrual Cycle / Q000235:genetics; D008875:Middle Aged; D010053:Ovary / Q000502:physiology*; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011256:Pregnancy Outcome; D018000:Receptors, Peptide / Q000235:genetics*; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics; D055815:Young Adult
chemical_list: D006728:Hormones; D018000:Receptors, Peptide; D018125:Receptors, Transforming Growth Factor beta; C084621:anti-Mullerian hormone receptor; D054304:Anti-Mullerian Hormone
keywords: AMH; AMHR2; endocrine changes and reproduction; polymorphism; population genetic variation