Liu Ai Ling, Liao Hong Qing, Zhou Jing, Nie Yu Lin, Zhou Cui Lan, Li Zhi Liang, Guo Zi Fen, He Dong Xiu, Zhu Yun Hua, Peng Cui Ying
a Institute of Biology, School of Pharmaceutical and Biological Science , University of South China , Hengyang , PR China.
b Hunan Province Cooperative Innovation Center for Molecular Target New Drug Study , Hengyang , PR China.
Gynecol Endocrinol. 2018 Aug;34(8):719-723. doi: 10.1080/09513590.2018.1441397. Epub 2018 Feb 20.
We investigated the association between single nucleotide polymorphisms (SNPs) in the fat mass and obesity associated (FTO) gene (rs9926289 A/G, rs79206939 A/G, rs9930506 A/G, rs8050136 A/C, and rs1588413 C/T) and polycystic ovary syndrome (PCOS), as well as outcomes of in vitro fertilization (IVF). A case-control study consisting of 147 PCOS patients and 120 healthy controls was conducted. FTO SNPs were genotyped by PCR to determine allelic frequencies, and IVF outcomes were analyzed. The results showed that FTO rs8050136 (p = .025) and rs1588413 (p = .042) were significantly associated with PCOS susceptibility, and women with risk alleles were often found to be obese (p < .05). For SNP rs8050136, women with AA + AC genotypes had higher body mass indexes (BMIs), oral glucose tolerance test/2 h (OGTT) levels and implantation rates but lower follicle-stimulating hormone (FSH) and human chorionic gonadotropin (hCG) day progesterone levels and ovulation numbers (all p < .05) than those with the CC genotype. For SNP rs1588413, women carrying risk alleles exhibited higher BMIs, implantation rate, and levels of luteinizing hormone (LH), estradiol, and OGTT/2 h (all p < .05) compared with those with non-risk genotypes. Therefore, these findings suggest that rs8050136 and rs1588413 are associated with PCOS susceptibility, and that women with risk alleles have less ovulation numbers but higher implantation rates than those with other genotypes.
我们研究了脂肪量和肥胖相关（FTO）基因中的单核苷酸多态性（SNP）（rs9926289 A/G、rs79206939 A/G、rs9930506 A/G、rs8050136 A/C和rs1588413 C/T）与多囊卵巢综合征（PCOS）以及体外受精（IVF）结局之间的关联。进行了一项病例对照研究，包括147例PCOS患者和120例健康对照。通过聚合酶链反应（PCR）对FTO SNP进行基因分型以确定等位基因频率，并分析IVF结局。结果显示，FTO rs8050136（p = 0.025）和rs1588413（p = 0.042）与PCOS易感性显著相关，且具有风险等位基因的女性常被发现肥胖（p < 0.05）。对于SNP rs8050136，与CC基因型女性相比，AA + AC基因型女性具有更高的体重指数（BMI）、口服葡萄糖耐量试验/2小时（OGTT）水平和着床率，但促卵泡生成素（FSH）和人绒毛膜促性腺激素（hCG）日孕激素水平及排卵数较低（均p < 0.05）。对于SNP rs1588413，与非风险基因型女性相比，携带风险等位基因的女性表现出更高的BMI、着床率以及黄体生成素（LH）、雌二醇和OGTT/2小时水平（均p < 0.05）。因此，这些发现表明rs8050136和rs1588413与PCOS易感性相关，且具有风险等位基因的女性比其他基因型女性排卵数少但着床率高。
