泛素特异性蛋白酶34（USP34）与多囊卵巢综合征的关联研究。
An association study between USP34 and polycystic ovary syndrome.
作者信息
Zhao Shigang, Tian Ye, Zhang Wei, Xing Xiuye, Li Tao, Liu Hongbin, Huang Tao, Ning Yunna, Zhao Han, Chen Zi-Jiang
机构信息
Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Center for Reproductive Medicine, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200135, China.
Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, China.
出版信息
J Ovarian Res. 2015 May 15;8:30. doi: 10.1186/s13048-015-0158-y.
BACKGROUND
Polycystic ovary syndrome (PCOS) is a complex multifactor disorder and genetic factors have been implicated in its pathogenesis. Our previous genome-wide association study (GWAS) had identified allele frequencies in several single nucleotide polymorphisms (SNPs) in gene USP34 (Ubiquitin-Specific Protease 34) were significantly different between PCOS cases and controls. This study was aimed to replicate the previous results in another independent cohort.
METHODS
One thousand two hundred eighteen PCOS cases and 1057 controls were recruited. Genotyping of two SNPs (rs17008097 and rs17008940) in USP34 gene were performed by TaqMan-MGB probe assay and genotype-phenotype analysis was conducted subsequently.
RESULTS
The differences of allele or genotype frequencies were not significant statistically between PCOS and controls, even after age and BMI adjustment. For clinical and metabolic features (LH, T and HOMA-IR) analysis in PCOS cases, no statistical differences among three genotypes of rs17008097 and rs17008940 were found. However, rs17008940 was shown to be slightly associated with BMI in PCOS cases rather than in controls, even after age adjustment (TC vs CC P = 0.006, OR = 1.042, 95% CI 1.012-1.073; TT vs CC P = 0.037, OR = 1.050, 95% CI 1.003-1.100).
CONCLUSIONS
USP34 gene polymorphisms (rs17008097 and rs17008940) may not be associated with PCOS in the Han Chinese women.
背景
多囊卵巢综合征（PCOS）是一种复杂的多因素疾病，遗传因素已被认为与其发病机制有关。我们之前的全基因组关联研究（GWAS）已经确定，基因USP34（泛素特异性蛋白酶34）中的几个单核苷酸多态性（SNP）的等位基因频率在PCOS病例和对照之间存在显著差异。本研究旨在在另一个独立队列中重复之前的结果。
方法
招募了1218例PCOS病例和1057例对照。通过TaqMan-MGB探针法对USP34基因中的两个SNP（rs17008097和rs17008940）进行基因分型，并随后进行基因型-表型分析。
结果
即使在调整年龄和BMI后，PCOS组与对照组之间的等位基因或基因型频率差异在统计学上也不显著。对于PCOS病例的临床和代谢特征（LH、T和HOMA-IR）分析，未发现rs17008097和rs17008940的三种基因型之间存在统计学差异。然而，即使在调整年龄后，rs17008940在PCOS病例中而非对照组中显示出与BMI有轻微关联（TC vs CC P = 0.006，OR = 1.042，95% CI 1.012 - 1.073；TT vs CC P = 0.037，OR = 1.050，95% CI 1.003 - 1.100）。
结论
USP34基因多态性（rs17008097和rs17008940）可能与中国汉族女性的PCOS无关。
Zotero 插件