Yang Jie, Zhao Rusong, Li Lei, Li Guangyu, Yang Ping, Ma Jinlong, Zhao Shigang, Zhao Han
Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, Jinan, China; Key Laboratory of Reproductive Endocrinology of Ministry of Education, Shandong University, Jinan, China; Shandong Provincial Clinical Medicine Research Center for Reproductive Health, Shandong University, Jinan, China.
Department of Biological Sciences, University of Notre Dame, Notre Dame IN, USA.
Reprod Biomed Online. 2020 Oct;41(4):724-728. doi: 10.1016/j.rbmo.2020.05.005. Epub 2020 May 19.
This study investigated whether rs1784692 is a risk factor for polycystic ovary syndrome (PCOS) in Han Chinese women.
A case-control study was conducted in Han Chinese women, involving 526 PCOS patients and 522 control participants. A TaqMan MGB probe assay was used to genotype the variant rs1784692. Dominant and additive models were employed for genotype-phenotype association analysis in the PCOS and control samples.
The minor allele C of rs1784692 is protective against PCOS (odds ratio [OR] 0.556, 95% confidence interval [CI] 0.408-0.759, P = 1.83 × 10), even after adjustment for body mass index (BMI) and age (OR 0.539, 95% CI 0.391-0.743, P= 1.62 × 10). Genotype-phenotype analysis of the dominant model showed that mean BMI in the CC+CT group was higher than in the TT group in the PCOS group (27.12 ± 5.82 versus 24.57 ± 4.52, P = 1.0 × 10), but not in the control groups, indicating that the minor allele C of rs1784692 associates with BMI in women with PCOS. The mean LH (luteinizing hormone) concentration in the CC+CT group was lower than in the TT group in PCOS and control participants (9.33 ± 5.08 versus 10.93 ± 5.91, P = 0.036; 4.39 ± 1.66 versus 4.89 ± 2.07, P = 0.021). Genotype-phenotype analysis of additive model showed that mean BMI in TC group was higher than in the TT group in PCOS patients compared with control participants (27.14 ± 5.81 versus 24.57 ± 4.52, P = 3.06 × 10).
The SNP rs1784692 in gene ZBTB16 is protective against PCOS but is associated with increased BMI in Han Chinese women with PCOS.
本研究调查了rs1784692是否为中国汉族女性多囊卵巢综合征（PCOS）的一个风险因素。
对中国汉族女性进行了一项病例对照研究，纳入526例PCOS患者和522例对照者。采用TaqMan MGB探针法对rs1784692变异进行基因分型。在PCOS和对照样本中采用显性和加性模型进行基因型-表型关联分析。
rs1784692的次要等位基因C对PCOS具有保护作用（优势比[OR] 0.556，95%置信区间[CI] 0.408 - 0.759，P = 1.83×10），即使在调整体重指数（BMI）和年龄后也是如此（OR 0.539，95% CI 0.391 - 0.743，P = 1.62×10）。显性模型的基因型-表型分析显示，PCOS组中CC + CT组的平均BMI高于TT组（27.12±5.82对24.57±4.52，P = 1.0×10），但在对照组中并非如此，这表明rs1784692的次要等位基因C与PCOS女性的BMI相关。PCOS患者和对照者中，CC + CT组的平均促黄体生成素（LH）浓度低于TT组（9.33±5.08对10.93±5.91，P = 0.036；4.39±1.66对4.89±2.07，P = 0.021）。加性模型的基因型-表型分析显示，与对照者相比，PCOS患者中TC组的平均BMI高于TT组（27.14±5.81对24.57±4.52，P = 3.06×10）。
ZBTB16基因中的单核苷酸多态性rs1784692对PCOS具有保护作用，但与中国汉族PCOS女性的BMI升高有关。
