摘要
目的研究Fetuin-A基因rs1071592和rs2593813单核苷酸多态性与中国重庆地区汉族人群多囊卵巢综合征（PCOS）易感性及其内分泌代谢特征的关系。方法收集147例PCOS患者和156例健康对照者的临床资料及血标本,测定血糖、血脂、性激素等生化指标,应用Taq Man探针荧光定量PCR法对Fetuin-A基因rs1071592和rs2593813位点进行基因分型。147例PCOS患者和20例健康对照者行高胰岛素-正葡萄糖钳夹试验评估其胰岛素敏感性。采用二项logistic回归分析PCOS发病的风险等位基因。结果 PCOS组Fetuin-A基因rs1071592多态性位点AA基因型和A等位基因分布频率明显高于对照组,差异有统计学意义（Pc〈0.05）。二项logistic回归分析发现,在rs1071592多态性位点中,AA基因型携带者发生PCOS的风险是CC基因型携带者的4.93倍（OR=4.933,95%CI 1.593～15.278,P〈0.05）;PCOS患者中AA或AC基因型携带者的体重指数、空腹胰岛素水平、稳态模型的胰岛素抵抗指数（HOMA2-IR）明显高于CC基因型携带者,而M值却明显低于CC基因型携带者,差异有统计学意义（P〈0.05）。PCOS组和对照组rs2593813位点基因型和等位基因分布频率差异无统计学意义（Pc〉0.05）。结论 Fetuin-A基因rs1071592多态性可能与重庆地区汉族人群PCOS遗传易感性有关,而rs2593813多态性与重庆地区汉族人群PCOS无显著相关。
Objective To investigate the relations of Fetuin-A gene rs1071592 and rs2593813 single nucleotide polymorphisms （SNPs） with the affect ability to polycystic ovary syndrome （PCOS） and its endocrine and metabolic characteristics in Chongqing Han population. Methods A case-control study was performed in Chinese Han subjects. The clinical data of 156 cases of normal control and 147 cases of PCOS patients were collected, and their blood glucose, lipids, sex hormone and other biochemical indexes were determined, the SNPs of rs1071592 and rs2593813 were genotyped by TaqMan SNP Genotyping Assay. Hyperinsulinemic-euglycemic clamp was performed in 147 PCOS women and 20 controls. The relative risk of developing PCOS in women with rs1071592 genotype was assessed using a binary logistic regression analysis. Results The distribution frequency of Fetuin-A gene homozygous rs1071592 AA genotype and A allele was significantly increased in PCOS patients than in controls （Pc〈0.05）, while no significant difference existed in genotype and allele frequencies of rs2593813 between PCOS patients and normal controls （Pc〉0.05）. Binary logistic regression analysis showed that the risk of developing PCOS was 4.93 times high in women with AA genotype of rs1071592 （OR--4.933, 95%CI 1.593-15.278, P〈0.05） compared to those with CC genotype of rs1071592. In addition, dominant model analysis showed that AA＋AC genotype carriers of rs1071592 had higher levels of BMI, fasting serum insulin, HOMA2-IR and lower M value compared to those PCOS carriers of CC genotype of rs1071592 （P〈0.05）. Recessive model analysis showed that PCOS patients carrying AA genotype of rs 1071592 had higher levels of fasting serum insulin, HOMA2-IR and lower M value compared to those women carrying AC＋CC genotype （P〈0.05）. No significant difference existed between PCOS women and controls in rs2593813 SNPs genotype and allele frequencies （Pc〉0.05）. Conclusion People with SNPs variants of rs1071592 in Fetuin-A gene may have an increased genetic susceptibility to PCOS. However, there won＇t be significant relationship between SNP ofrs2593813 at Fetuin-A gene and PCOS.
出处
《解放军医学杂志》
CAS
CSCD
北大核心
2016年第9期734-739,共6页
Medical Journal of Chinese People's Liberation Army
基金
国家自然科学基金(81370954
81300486)
国家临床重点专科建设项目(2011-170)
重庆市基础科学与前沿技术研究项目(cstc2015jcyj B0111
cstc2015jcyj A10013)
重庆市渝中区基础与前沿科技项目(20150104)~~
