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.
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 PCOSpatients 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 PCOSpatients with rs11225161 risk allele A. The G allele of SNP rs11225138 (G/C) was a further risk factor for higher luteinising hormone level in PCOSpatients (p=0.041). CONCLUSION:YAP1 appears to be a new susceptibility gene for PCOS in Han Chinese women.
Authors: Gladis Michel-Ramirez; Rogelio Recio-Vega; R Clark Lantz; A Jay Gandolfi; Edgar Olivas-Calderon; Binh T Chau; Mary Kay Amistadi Journal: J Appl Toxicol Date: 2019-10-21 Impact factor: 3.446
Authors: Kristi Maas; Sheyla Mirabal; Alan Penzias; Paul M Sweetnam; Kevin C Eggan; Denny Sakkas Journal: J Assist Reprod Genet Date: 2018-08-17 Impact factor: 3.412
Authors: E Makrinou; A W Drong; G Christopoulos; A Lerner; I Chapa-Chorda; T Karaderi; S Lavery; K Hardy; C M Lindgren; S Franks Journal: Mol Cell Endocrinol Date: 2019-10-07 Impact factor: 4.102