中华妇产科杂志
中華婦產科雜誌
중화부산과잡지
CHINESE JOUNAL OF OBSTETRICS AND GYNECOLOGY
2014年
10期
758-762
,共5页
张文娟%孙丽霞%郭俊%于新艳%石玉华
張文娟%孫麗霞%郭俊%于新豔%石玉華
장문연%손려하%곽준%우신염%석옥화
多囊卵巢综合征%脂联素%多态性,单核苷酸%连锁不平衡%传递不平衡
多囊卵巢綜閤徵%脂聯素%多態性,單覈苷痠%連鎖不平衡%傳遞不平衡
다낭란소종합정%지련소%다태성,단핵감산%련쇄불평형%전체불평형
Polycystic ovary syndrome%Adiponectin%Polymorphism,single nucleotide%Linkage disequilibrium%Transmission disequilibrium
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.
目的 以多囊卵巢綜閤徵(PCOS)傢繫為基礎,研究脂聯素基因(ADIPOQ)的3箇單覈苷痠多態性(SNP)位點rs1501299、rs2241766和rs12495941與PCOS髮病的相關性.方法 選取224箇PCOS覈心傢繫,所有傢繫成員均空腹測定血糖、胰島素及血脂等生化指標,併採血提取DNA.採用PCR技術和直接測序方法對ADIPOQ的3箇SNP位點的基因型進行分析,應用傳遞不平衡檢驗(TDT)、連鎖不平衡檢驗分析SNP位點與PCOS髮病的相關性.結果 (1)rs1501299位點的C等位基因存在傳遞不平衡現象(x2=7.093,P=O.008),而rs2241766和rs12495941位點未檢測到顯著的傳遞不平衡現象(x2=1.620,P=0.203;x2=0.713,P=0.398).(2)rs1501299與rs2241766位點之間存在微弱的連鎖不平衡(r2=0.063,D'=0.621).(3)非肥胖PCOS患者與肥胖PCOS患者、非肥胖PCOS患者的父親與肥胖PCOS患者的父親、非肥胖PCOS患者的母親與肥胖PCOS患者的母親之間各基因型頻率分彆比較,差異均無統計學意義(P＞0.05).結論 rs1501299位點多態性與PCOS的髮病易感性相關,C等位基因可能是增加PCOS髮病風險的關鍵等位基因.3箇SNP位點均與PCOS的肥胖錶型不相關.
목적 이다낭란소종합정(PCOS)가계위기출,연구지련소기인(ADIPOQ)적3개단핵감산다태성(SNP)위점rs1501299、rs2241766화rs12495941여PCOS발병적상관성.방법 선취224개PCOS핵심가계,소유가계성원균공복측정혈당、이도소급혈지등생화지표,병채혈제취DNA.채용PCR기술화직접측서방법대ADIPOQ적3개SNP위점적기인형진행분석,응용전체불평형검험(TDT)、련쇄불평형검험분석SNP위점여PCOS발병적상관성.결과 (1)rs1501299위점적C등위기인존재전체불평형현상(x2=7.093,P=O.008),이rs2241766화rs12495941위점미검측도현저적전체불평형현상(x2=1.620,P=0.203;x2=0.713,P=0.398).(2)rs1501299여rs2241766위점지간존재미약적련쇄불평형(r2=0.063,D'=0.621).(3)비비반PCOS환자여비반PCOS환자、비비반PCOS환자적부친여비반PCOS환자적부친、비비반PCOS환자적모친여비반PCOS환자적모친지간각기인형빈솔분별비교,차이균무통계학의의(P＞0.05).결론 rs1501299위점다태성여PCOS적발병역감성상관,C등위기인가능시증가PCOS발병풍험적관건등위기인.3개SNP위점균여PCOS적비반표형불상관.
Objective 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.
