摘要目的 以多囊卵巢综合征(PCOS)家系为基础,研究脂联素基因(ADIPOQ)的3个单核苷酸多态性(SNP)位点rs1501299、rs2241766和rs12495941与PCOS发病的相关性.方法 选取224个PCOS核心家系,所有家系成员均空腹测定血糖、胰岛素及血脂等生化指标,并采血提取DNA.采用PCR技术和直接测序方法对ADIPOQ的3个SNP位点的基因型进行分析,应用传递不平衡检验(TDT)、连锁不平衡检验分析SNP位点与PCOS发病的相关性.结果 (1)rs1501299位点的C等位基因存在传递不平衡现象(x2=7.093,P=O.008),而rs2241766和rs12495941位点未检测到显著的传递不平衡现象(x2=1.620,P=0.203;x2=0.713,P=0.398).(2)rs1501299与rs2241766位点之间存在微弱的连锁不平衡(r2=0.063,D'=0.621).(3)非肥胖PCOS患者与肥胖PCOS患者、非肥胖PCOS患者的父亲与肥胖PCOS患者的父亲、非肥胖PCOS患者的母亲与肥胖PCOS患者的母亲之间各基因型频率分别比较,差异均无统计学意义(P＞0.05).结论 rs1501299位点多态性与PCOS的发病易感性相关,C等位基因可能是增加PCOS发病风险的关键等位基因.3个SNP位点均与PCOS的肥胖表型不相关.

abstractsObjective To study the association between three single nucleotide polymorphisms (SNP; rs2241766,rs1501299 and rs12495941) variants of the adiponectin gene (ADIPOQ) and polycystic ovary syndrome (PCOS) in PCOS family trios.Methods A total of 224 unrelated PCOS probands,their biological parents were recruited.Anthropometric variables such as waist circumference (WC),hip circumference (HC),height and weight were measured in all subjects during the first visit to the outpatient department.Body mass index (BMI) and waist-hip ratio (WHR) were calculated.Serum fasting glucose (FBG),fasting insulin (FINS),total cholesterol (TC),triglycerides (TG),low-density lipoprotein and highdensity lipoprotein cholesterol (HDL) levels were measured.PCOS patients were divided into two groups based on BMh group A (BMI＜25 kg/m2) and group B (BMI≥25 kg/m2).Parents of PCOS patients were accordingly categorized into group C,D (fathers) and group E,F (mothers).The transmission disequilibrium test (TDT) was used to analyze the association between three SNP of ADIPOQ and PCOS.Results (1) A significant positive association was detected between SNP rs1501299 and PCOS (x2=7.093,P=0.008).However we failed to find significant overtransmission of the other two SNP rs2241766 and rs12495941 from parents to PCOS offsprings (x2=1.620,P=0.203; x2=0.713,P=0.398).(2) Linkage disequilibrium (LD) was analyzed in the subjects,rs1501299 and rs2241766 were in weak LD (r2=0.063,D'=0.621).(3) The levels of WC,HC,WHR,testosterone,TG,HDL and FINS were significantly differences between obese and lean PCOS patients (P＜0.05).While in fathers we only found WC,HC,TC levels being statistically different (P＜ 0.05).Mothers of obese PCOS patients had increased levels of FINS compared with mothers of lean PCOS patients (P＜0.05).The genotype frequencies of the three SNP were not different in obese and lean PCOS patients and their parents (P＞0.05).Conclusions TDT confirms that SNP rs1501299 in the ADIPOQ is significantly associated with the risk of PCOS in the Chinese Han population.The three SNP of the ADIPOQ were not associated with the obesity of PCOS.