Association between Common Genetic Variants and Polycystic Ovary Syndrome Risk in a Chinese Han Population

Abstract

Objective:Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies affecting 5-7% of reproductive age women worldwide. The aim of our study was to explore the PCOS-related single nucleotide polymorphism (SNP) associations between common genetic variants and PCOS risk in a Han Chinese women population.Methods:In this case-control study, 285 Chinese Han women aged 28.50±6.858 years with PCOS and 299 controls of a mean age of 32.66±7.018 years were compared. We selected recently published genome-wide association studies (GWAS) which identified several genetic loci in PCOS. All the SNPs were genotyped by Sequenom Mass-ARRAY technology. Associations between the gene and the risk of PCOS were tested using various genetic models by Statistical Package for the Social Sciences and Plink.Results:We found that rs705702 in the RAB5B/SUOX was associated with PCOS (odds ratio=1.42; 95% confidence interval=1.08-1.87, p=0.011) and increased the PCOS risk. The genotypic model analysis also showed that rs705702 was associated with PCOS risk.Conclusion:Our results suggest that SNPs rs705702 in gene RAB5B/SUOX was associated with PCOS in Han Chinese women.

Combined approaches to reveal genes associated with litter size in Yunshang black goats

“…Hence, it was unsurprising that PPP2R5C was found to cause human overgrowth, and to couple hepatic glucose and lipid homeostasis (Cheng et al 2015;Loveday et al 2015). It is also noteworthy that another ROH hotspot found on chromosome 5 (50-70 Mb) in this study is a homology segment of human RAB5B region on chromosome 12, which is a candidate locus for PCOS (Shi et al 2012;McAllister et al 2015;Sun et al 2016;Hiam et al 2019). RPS26, a ribosomal protein-encoding gene located at ROH5, was also a susceptibility gene for PCOS where the decreasing protein levels of oocyte-derived bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) contributed to arrested oocyte growth and premature ovarian failure in oocyte-specific Rps26 KO mouse (Liu et al 2018).…”

Association between melatonin receptor gene polymorphisms and polycystic ovarian syndrome: a systematic review and meta-analysis

“…However, the limitation of our study is that we only discussed from the perspective of MTNR gene while other SNPs are ignored. Because the pathogenesis of PCOS is complex and different genome-wide association studies (GWASs) conclusions are more heterogeneous [60], multiple SNPs mutations may affect metabolic and endocrine profiles in the same PCOS patient, such as insulin receptor gene (INSR) and luteinizing hormone/choriogonadotropin receptor (LHCGR) [61]. Therefore, further research is expected to combining multi-racial GWAS results of arrays by bioinformatics [62,63] and take other gene receptor into consideration to analysis-related molecular pathways [64].…”

Pathomechanisms of polycystic ovary syndrome Multidimensional approaches

“…Interestingly Ras-related protein RAB5B, another previously identified genetic locus in the Chinese GWAS involved in intracellular vesicle transport was found to be differentially expressed in PCOS adipose tissue (95,96). Studies in Han Chinese (97) and Dutch (50) women as well as a cross-ethnic metaanalysis (50) strongly implicate the role of rs705702 polymorphism in PCOS susceptibility; however studies in women of European ethnicity demonstrated no such association with PCOS (85). RAB5B is instrumental in modulating glucose transporter type 4 (GLUT4) translocation and internalization, particularly endosomal trafficking of GLUT4 in combination with dynein and the cytoskeleton (98,99).…”