Association of gene polymorphisms in the anti-Müllerian hormone signalling pathway with ovarian function: a systematic review and meta-analysis

Cheng, Ran; Xiong, Wei; Luo, Xiaoyan; Nie, Ying; Qiao, Xiaoyong; Chen, Hui; Hu, Ying; Xu, Liangzhi

doi:10.1016/j.rbmo.2019.04.010

Cited by 5 publications

(1 citation statement)

References 34 publications

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“…In a meta-analysis by Pabalan et al (97) performed in 2016, the associations of the AMH Ile49Ser variant and AMHR2 482A>G variant on reproductive outcomes initially appeared null, however, after subgroup analysis, pooled effects were found in differing ethnic groups with polymorphisms appearing to be protective in whites and variable in those of Asian descent. However, a subsequent 2019 meta-analysis did not find a difference in measures of ovarian reserve in women with differing variants of the AMHR2 -482A>G gene (110). There were no studies available in our search with prevalence data available for both women with DOR and controls for variants in either AMH or AMHR2 genes.…”

Section: Single-nucleotide Polymorphismsmentioning

confidence: 82%

New perspectives on the genetic causes of diminished ovarian reserve and opportunities for genetic screening: systematic review and meta-analysis

Nesbit

Jia

Singh³

et al. 2020

F&S Reviews

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Objective: To provide an update on single-gene mutations identified as causative for pathologic diminished ovarian reserve (DOR) to inform clinical screening recommendations. Evidence Review: A systematic review of the literature was performed in accordance with PRISMA guidelines using PubMed and EM-BASE databases. Only full-text articles in English were included and articles were excluded that did not relate to single-gene causes of pathologic DOR in humans. The search was supplemented using references of the included articles. Primary outcomes included prevalence ratios (PRs) for 12 genes associated with pathologic DOR. Result(s): A total of 550 articles were screened, with 108 articles included for review. Fifteen observational studies had prevalence data available for quantitative analysis. Elevated prevalence ratios were found in women with DOR for the FMR1 premutation and FMR2 mutations as well as single-nucleotide polymorphisms in the BMP15, GDF9, FSHR, and NOBOX genes. Although some studies have suggested an increased prevalence of BRCA1 and BRCA2 mutations in women with DOR, the prevalence in the controls in the included studies was elevated and PRs did not achieve statistical significance. Conclusion(s): Women diagnosed with DOR are at an increased risk of carrying mutations in FMR1, FMR2, and variants in BMP15, GDF9, FSHR, and NOBOX genes. Of these, the only gene identified as having the potential to cause significant deleterious effects in offspring is the FMR1 premutation, which supports current national screening guidelines. Further studies of BRCA1 and BRCA2 are needed to determine whether pathologic DOR might be associated with mutations in those genes.

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Section: Single-nucleotide Polymorphismsmentioning

confidence: 82%

New perspectives on the genetic causes of diminished ovarian reserve and opportunities for genetic screening: systematic review and meta-analysis

Nesbit

Jia

Singh³

et al. 2020

F&S Reviews

View full text Add to dashboard Cite

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Association of AMH and AMHR2 gene polymorphisms with ovarian response and pregnancy outcomes in Indian women

Colaco

Achrekar

Patil

et al. 2022

J Assist Reprod Genet

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A Comprehensive Overview of Common Polymorphic Variants in Genes Related to Polycystic Ovary Syndrome

et al. 2020

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Association of gene polymorphisms in the anti-Müllerian hormone signalling pathway with ovarian function: a systematic review and meta-analysis

Abstract: The AMHRII −482 A>G polymorphism may be related to modified anti-Müllerian hormone levels in polycystic ovary syndrome and healthy subgroups. However, the impact of polymorphisms in the AMH signalling pathway on ovarian function still requires further investigation.

Cited by 5 publications

References 34 publications

New perspectives on the genetic causes of diminished ovarian reserve and opportunities for genetic screening: systematic review and meta-analysis

New perspectives on the genetic causes of diminished ovarian reserve and opportunities for genetic screening: systematic review and meta-analysis

Association of AMH and AMHR2 gene polymorphisms with ovarian response and pregnancy outcomes in Indian women

A Comprehensive Overview of Common Polymorphic Variants in Genes Related to Polycystic Ovary Syndrome

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