J Med Genet 49:254-257 doi:10.1136/jmedgenet-2011-100727
  • Complex traits
  • Short report

Identification of YAP1 as a novel susceptibility gene for polycystic ovary syndrome

  1. Zi-Jiang Chen1,2,3,4
  1. 1Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, China
  2. 2National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China
  3. 3The Key laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, People's Republic of China
  4. 4Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China
  5. 5Center for Reproductive Medicine, Shanghai Renji Hospital, Shanghai, People's Republic of China
  1. Correspondence to Professor Zi-Jiang Chen, Shandong Provincial Key Laboratory of Reproductive Medicine, Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, China; chenzijiang{at}
  1. Contributors Wrote the manuscript: LT, ZH, ZX; edited the manuscript: ZH, CL, WP; conceived the study: CZ, ZH; performed experiments: LT, ZB, LG; provided clinical data: SY, ZH.

  • Received 27 December 2011
  • Revised 30 January 2012
  • Accepted 16 February 2012


Background A previously reported genome-wide association study (GWAS) of polycystic ovary syndrome (PCOS) in Han Chinese found that several loci of p value around 10e-5 warrant investigation. Replication of the GWAS was applied in this study to determine whether gene YAP1 (yeast associated protein 1) is associated with PCOS.

Methods An independent set of 1115 PCOS patients and 1137 controls were recruited; single nucleotide polymorphisms (SNPs) rs11225138, rs11225161, and rs11225166 from YAP1 were selected for the replication study. Real-time quantitative PCR was applied for genotyping by TaqMan-MGB probe assay.

Results Meta-analysis showed that the allele frequency of rs11225161 (A/G) was significantly different between PCOS and controls at a GWA significance (Pmeta =3.98e-09). Genotype–phenotype correlation study found 30 min and 60 min glucose of the oral glucose tolerance test were higher in PCOS patients with rs11225161 risk allele A. The G allele of SNP rs11225138 (G/C) was a further risk factor for higher luteinising hormone level in PCOS patients (p=0.041).

Conclusion YAP1 appears to be a new susceptibility gene for PCOS in Han Chinese women.


  • TL, HZ and XZ contributed equally to this paper.

  • Funding This research was supported by the National Natural Science Foundation of China (81000238, 81070461, 81000236, 30973170), National Basic Research Program of China (973 program) (2010CB945002, 2007CB947403, 2012CB944700), and Graduate Independent Innovation Foundation of Shandong University (GIIFSDU) (21300070613242, 21300070613246).

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval Ethics approval was provided by Institutional Review Board for Reproductive Medicine of Shandong University (Shandong, China).

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement The additional unpublished data from the study are available to nobody else but the authors.