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Haplotype analysis of single nucleotide polymorphisms in anti-Müllerian hormone gene in Chinese PCOS women

  • General Gynecology
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Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

Abstract

Purpose

Anti-Müllerian hormone (AMH) inhibits FSH-stimulated follicle growth and aromatase activity. The three fold higher serum AMH in PCOS patients may account for the increased number of small follicles and androgen level. We attempted to determine whether polymorphisms in AMH gene were associated with PCOS in Chinese han population.

Methods

A case–control study involving 475 PCOS patients and 512 normoovulatory women was conducted. Rs10407022 and rs8112524 were two tagging SNPs selected according to the HapMap database. Taqman assay was used for rs8112524 genotyping, and PCR–RFLP method for rs10407022.

Results

No significant difference was found in genotypic or allelic distributions of both of the two SNPs, rs10407022 and rs8112524, between PCOS women and controls. LH level and progesterone level were significantly higher in rs8112524 AA genotype in PCOS group (P = 0.012, 0.014 respectively). TA haplotype might enhance susceptibility to PCOS (P = 0.013, OR = 4.996, 95 % CI = 2.001–5.251), and GA haplotype might be protective (P = 0.000, OR = 0.117, 95 % CI = 0.049–0.417).

Conclusions

Although individual TagSNPs in AMH gene do not affect susceptibility to PCOS, haplotypes of the two SNPs were associated with PCOS risk, as TA haplotype might enhance susceptibility to PCOS and GA inversely.

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Acknowledgments

The authors thank the Natural Science Foundation of China for financial support (81170541, 30672228 to Yong WANG) and the Natural Basic Research Program of China (973 programme 2010CB945103).

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Authors and Affiliations

  1. Center for Translational Medicine and Jiangsu Key Laboratory of Molecular Medicine, Medical School of Nanjing University, Nanjing, 210093, China

    Pei Xu, Shan-mei Shen, Xin-lin Zhang, Fengjing Liang, Guang-bin Xie, Long Yi, Qian Gao & Yong Wang

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  1. Pei Xu
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  2. Shan-mei Shen
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Correspondence to Yong Wang.

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Xu, P., Shen, Sm., Zhang, Xl. et al. Haplotype analysis of single nucleotide polymorphisms in anti-Müllerian hormone gene in Chinese PCOS women. Arch Gynecol Obstet 288, 125–130 (2013). https://doi.org/10.1007/s00404-013-2734-y

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  • DOI: https://doi.org/10.1007/s00404-013-2734-y

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