Association between an AMH promoter polymorphism and serum AMH levels in PCOS patients

Loes M E Moolhuijsen; Yvonne V. Louwers; Anke McLuskey; Linda Broer; André G. Uitterlinden; Renée M.G. Verdiesen; Ryan Sisk; Andrea Dunaif; Joop S.E. Laven; Jenny A. Visser

doi:10.1093/humrep/deac082

April 14, 2022Human ReproductionOpen Access

Association between an AMH promoter polymorphism and serum AMH levels in PCOS patients

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Key Points

Investigate whether common single-nucleotide polymorphisms in the anti-Müllerian hormone (AMH) promoter region alter serum AMH levels in women with polycystic ovary syndrome.
Analyzed common AMH promoter SNPs via linear regression across a discovery cohort (N=655 PCOS), internal validation cohort (N=458 PCOS), external validation cohort (N=321 PCOS), and a normo-ovulatory control cohort (N=7049).
Performed in silico transcription factor binding predictions and in vitro luciferase reporter assays using mouse (KK1) and human (COV434) granulosa cell lines.
Carriers of the minor G allele of SNP rs10406324 had significantly lower log-transformed serum AMH across discovery (P=8.58 × 10⁻⁸), internal validation (P=1.35 × 10⁻³), and external validation (P=1.24 × 10⁻³) cohorts, and meta-analysis (P=3.24 × 10⁻¹²).
The rs10406324 minor allele was similarly associated with lower AMH in normo-ovulatory women (P=1.04 × 10⁻⁵) independently of follicle count or other clinical traits.
In silico analysis predicted reduced binding affinity of steroidogenic factor 1, estrogen-related receptor alpha, and glucocorticoid receptor to the G allele, though in vitro assays showed no difference in baseline promoter activity.

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Implication

Genetic association study reveals an AMH promoter polymorphism linked to lower serum AMH levels in women with PCOS, indicating genetic modulation independent of follicle count.

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Cite This Study

Moolhuijsen et al. (2022) studied this question.

synapsesocial.com/papers/6aaf7d90327e2162f5d06bf3 https://doi.org/10.1093/humrep/deac082

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Association between an AMH promoter polymorphism and serum AMH levels in PCOS patients

Key Points

No abstract yet

Implication

Discussion

Cite This Study

Association between an AMH promoter polymorphism and serum AMH levels in PCOS patients

Key Points

No abstract yet

Implication

Discussion

Cite This Study

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