Pengcheng Wan1, Linghan Meng2, Chao Huang3, Baosheng Dai4, Yuchen Jin3, Longlong Chai3, Xiuli Gu5, Bifeng Chen6,7, Song Quan8. 1. Center for Reproductive Medicine, Department of Gynecology and Obstetrics, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China. 2. Department of Biotechnology, Institute of WUT-AMU, Wuhan University of Technology, Wuhan, 430070, China. 3. Department of Biological Science and Technology, School of Chemistry, Chemical Engineering and Life Sciences, Wuhan University of Technology, Wuhan, 430070, China. 4. Clinical Laboratory Center, People's Hospital of Hubei, Wuhan University, Wuhan, 430072, China. 5. Department of Reproductive Genetics, Center of Reproductive Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430032, China. 6. Department of Biotechnology, Institute of WUT-AMU, Wuhan University of Technology, Wuhan, 430070, China. cbifeng@whut.edu.cn. 7. Department of Biological Science and Technology, School of Chemistry, Chemical Engineering and Life Sciences, Wuhan University of Technology, Wuhan, 430070, China. cbifeng@whut.edu.cn. 8. Center for Reproductive Medicine, Department of Gynecology and Obstetrics, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China. quansong@smu.edu.cn.
Abstract
PURPOSE: Polycystic ovary syndrome (PCOS) is a highly complex disorder influenced by genetic and environmental factors. Previous association studies have identified multiple PCOS-susceptible loci, but there is no consistent conclusion, which calls for further investigations. METHODS: In the present case-control study, FSHR gene variants (rs2268361, rs6165, and rs6166), LHCGR gene variant (rs13405728), THADA gene variant (rs13429458), DENND1A gene variants (rs10818854 and rs2479106), and INSR gene variants (rs2059807 and rs1799817) were genotyped with Sanger sequencing in a total of 400 PCOS women and 480 healthy women. RESULTS: After Bonferroni correction, our results showed that rs13405728, rs13429458, rs2479106, rs10818854, and rs2059807 were significantly associated with PCOS risk in Chinese women. To improve the statistical strength, a further meta-analysis in Asian population was conducted. Although rs6166 and rs1799817 were not associated with PCOS risk in the present study, they were identified to be strongly associated with PCOS risk in the pooled Koreans and Chinese respectively. No significant association with PCOS risk was consistently found for rs2268361 or rs6165. Moreover, the pooled results further confirmed the significant association with PCOS risk for rs13405728, rs13429458, rs2479106, rs10818854, and rs2059807. CONCLUSIONS: Collectively, the rs6166, rs13405728, rs13429458, rs2479106, rs10818854, rs2059807, and rs1799817 may indeed be the genetic risk factors for PCOS in Asian population, which requires further investigation using larger independent sets of samples in different ethnic populations.
PURPOSE: Polycystic ovary syndrome (PCOS) is a highly complex disorder influenced by genetic and environmental factors. Previous association studies have identified multiple PCOS-susceptible loci, but there is no consistent conclusion, which calls for further investigations. METHODS: In the present case-control study, FSHR gene variants (rs2268361, rs6165, and rs6166), LHCGR gene variant (rs13405728), THADA gene variant (rs13429458), DENND1A gene variants (rs10818854 and rs2479106), and INSR gene variants (rs2059807 and rs1799817) were genotyped with Sanger sequencing in a total of 400 PCOS women and 480 healthy women. RESULTS: After Bonferroni correction, our results showed that rs13405728, rs13429458, rs2479106, rs10818854, and rs2059807 were significantly associated with PCOS risk in Chinese women. To improve the statistical strength, a further meta-analysis in Asian population was conducted. Although rs6166 and rs1799817 were not associated with PCOS risk in the present study, they were identified to be strongly associated with PCOS risk in the pooled Koreans and Chinese respectively. No significant association with PCOS risk was consistently found for rs2268361 or rs6165. Moreover, the pooled results further confirmed the significant association with PCOS risk for rs13405728, rs13429458, rs2479106, rs10818854, and rs2059807. CONCLUSIONS: Collectively, the rs6166, rs13405728, rs13429458, rs2479106, rs10818854, rs2059807, and rs1799817 may indeed be the genetic risk factors for PCOS in Asian population, which requires further investigation using larger independent sets of samples in different ethnic populations.