An association study between USP34 and polycystic ovary syndrome.
An association study between USP34 and polycystic ovary syndrome.
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USP34与多囊卵巢综合征的关联研究
DOI：
10.1186/s13048-015-0158-y
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发表时间：
2015-05-15
影响因子：
4
通讯作者：
Chen ZJ
中科院分区：
文献类型：
--
作者：
Zhao S;Tian Y;Zhang W;Xing X;Li T;Liu H;Huang T;Ning Y;Zhao H;Chen ZJ
背景：多囊卵巢综合征（PCOS）是一种复杂的多因素疾病，其发病机制与遗传因素有关。我们先前的全基因组关联研究（GWAS）已经确定了多囊卵巢综合征患者和对照组之间在USP 34（泛素特异性蛋白酶34）基因的几个单核苷酸多态性（SNP）中的等位基因频率存在显著差异。本研究的目的是在另一个独立的队列中重复先前的结果。方法：收集了1218例PCOS患者和1057例对照。采用TaqMan-MGB探针法对PCOS患者USP 34基因的2个SNPs（rs 17008097和rs 17008940）进行基因分型，并进行基因型-表型分析。对于临床和代谢特征在PCOS组中，rs 17008940基因型与BMI的相关性较对照组略高，但在年龄调整后，rs 17008940基因型与BMI的相关性仍高于对照组结论：USP 34基因rs 17008097和rs 17008940多态性可能与中国汉族妇女PCOS无关。
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.
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影响因子：
3.7
作者：
Ewens KG;Jones MR;Ankener W;Stewart DR;Urbanek M;Dunaif A;Legro RS;Chua A;Azziz R;Spielman RS;Goodarzi MO;Strauss JF 3rd
通讯作者：
Strauss JF 3rd
DOI：
10.1073/pnas.0601752103
发表时间：
2006-04-25
影响因子：
11.1
作者：
Gesta, S;Blüher, M;Kahn, CR
通讯作者：
Kahn, CR
无多囊卵巢的多囊卵巢综合征的临床和代谢特征：针对中国女性的初步研究
影响因子：
6.7
作者：
Shi, Yuhua;Gao, Xuan;Chen, Zijiang
通讯作者：
Chen, Zijiang
影响因子：
4.8
作者：
Mu, Jung-Jung;Wang, Yi;Qin, Jun
通讯作者：
Qin, Jun
影响因子：
5.8
作者：
Azziz, R;Woods, KS;Yildiz, BO
通讯作者：
Yildiz, BO