Tian Ye, Zhang Wei, Zhao Shigang, Sun Yinhua, Bian Yuehong, Chen Tailai, Du Yanzhi, Zhang Jiangtao, Wang Zhao, Huang Tao, Peng Yingqian, Yang Ping, Zhao Han, Chen Zi-Jiang

Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.| Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.| Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.| Department of joint and bone oncology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.| Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.| Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.| Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.| Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.| Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.| Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.| Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.| Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.| Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.| Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.| Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.| Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.| Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.| Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.| Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.| Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.

Sci Rep. 2016 Feb 16;6:21195. doi: 10.1038/srep21195.

Dyslipidemia is common in polycystic ovary syndrome (PCOS). This study was aimed to investigate whether fatty acid desaturase genes (FADS), a dyslipidemia-related gene cluster, are associated with PCOS. We scanned variations of FADS genes using our previous data of genome-wide association study (GWAS) for PCOS and selected rs174570 for further study. The case-control study was conducted in an independent cohort of 1918 PCOS cases and 1889 age-matched controls and family-based study was conducted in a set of 243 core family trios with PCOS probands. Minor allele frequency (allele T) of rs174570 was significantly lower in PCOS cases than that in age-matched controls (P = 2.17E-03, OR = 0.85), even after adjustment of BMI and age. PCOS subjects carrying CC genotype had higher testosterone level and similar lipid/glucose level compared with those carrying TT or TC genotype. In trios, transmission disequilibrium test (TDT) analysis revealed risk allele C of rs174570 was significantly over-transmitted (P = 2.00E-04). Decreased expression of FADS2 was detected in PCOS cases and expression quantitative trait loci (eQTL) analysis revealed the risk allele C dosage was correlated with the decline of FADS2 expression (P = 0.002). Our results demonstrate that FADS1-FADS2 are susceptibility genes for PCOS.