中华妇产科杂志
中華婦產科雜誌
중화부산과잡지
CHINESE JOUNAL OF OBSTETRICS AND GYNECOLOGY
2014年
6期
441-445
,共5页
孙梅%盛燕%马增香%陈子江%唐蓉
孫梅%盛燕%馬增香%陳子江%唐蓉
손매%성연%마증향%진자강%당용
多囊卵巢综合征%肿瘤蛋白质类%死亡结构域受体信号接头蛋白质类%脂类代谢%胰岛素%疾病遗传易感性
多囊卵巢綜閤徵%腫瘤蛋白質類%死亡結構域受體信號接頭蛋白質類%脂類代謝%胰島素%疾病遺傳易感性
다낭란소종합정%종류단백질류%사망결구역수체신호접두단백질류%지류대사%이도소%질병유전역감성
Polycystic ovary syndrome%Neoplasm proteins%Death domain receptor signaling adaptor proteins%Lipid metabolism%Insulin%Genetic predisposition to disease
目的 探讨多囊卵巢综合征(PCOS)相关易感基因——LHCGR、THADA和DENND1A基因位点多态性与代谢表型的关系及易感基因的致病作用.方法 选择2006至2010年在山东大学附属省立医院生殖医学中心门诊就诊的PCOS患者1489例(PCOS组),对照组为非PCOS且无代谢异常的不孕患者4 708例;观察PCOS易感基因位点2p16.3(LHCGR基因rs13405728位点)、2p21(THADA基因rs13429458、rs12478601位点)和9q33.3(DENND1A基因rs2479106、rs10818854位点)及各基因多态性位点不同基因型PCOS患者之间的糖代谢及血脂代谢水平的差异.结果 THADA基因rs 12478601位点CC基因型患者血清低密度脂蛋白胆固醇(LDL-C)水平较TC +TT基因型者[分别为(2.5±0.8)、(2.4±0.8) mmol/L]升高,差异有统计学意义(P=0.01);DENND1A基因rs2479106位点GG+AG基因型者口服葡萄糖耐量试验(OGTT)后2h胰岛素水平高于AA基因型者[分别为(71±65)、(64 ±50) mU/L,P=0.05],患者一级亲属中糖尿病的发生率也明显增加[分别为9.9％ (66/666)、6.9％ (52/751),P＜0.05];THADA基因rs13429458、DENND1A基因rs10818854、LHCGR基因rs13405728位点与患者代谢表型无显著相关性(P＞0.05).结论 遗传因素对PCOS患者的临床特点改变有一定影响,THADA基因与PCOS患者脂代谢关系密切,DENND1A基因则可能参与了PCOS患者胰岛素代谢过程,LHCGR基因与PCOS患者代谢表型无明显相关性.
目的 探討多囊卵巢綜閤徵(PCOS)相關易感基因——LHCGR、THADA和DENND1A基因位點多態性與代謝錶型的關繫及易感基因的緻病作用.方法 選擇2006至2010年在山東大學附屬省立醫院生殖醫學中心門診就診的PCOS患者1489例(PCOS組),對照組為非PCOS且無代謝異常的不孕患者4 708例;觀察PCOS易感基因位點2p16.3(LHCGR基因rs13405728位點)、2p21(THADA基因rs13429458、rs12478601位點)和9q33.3(DENND1A基因rs2479106、rs10818854位點)及各基因多態性位點不同基因型PCOS患者之間的糖代謝及血脂代謝水平的差異.結果 THADA基因rs 12478601位點CC基因型患者血清低密度脂蛋白膽固醇(LDL-C)水平較TC +TT基因型者[分彆為(2.5±0.8)、(2.4±0.8) mmol/L]升高,差異有統計學意義(P=0.01);DENND1A基因rs2479106位點GG+AG基因型者口服葡萄糖耐量試驗(OGTT)後2h胰島素水平高于AA基因型者[分彆為(71±65)、(64 ±50) mU/L,P=0.05],患者一級親屬中糖尿病的髮生率也明顯增加[分彆為9.9％ (66/666)、6.9％ (52/751),P＜0.05];THADA基因rs13429458、DENND1A基因rs10818854、LHCGR基因rs13405728位點與患者代謝錶型無顯著相關性(P＞0.05).結論 遺傳因素對PCOS患者的臨床特點改變有一定影響,THADA基因與PCOS患者脂代謝關繫密切,DENND1A基因則可能參與瞭PCOS患者胰島素代謝過程,LHCGR基因與PCOS患者代謝錶型無明顯相關性.
목적 탐토다낭란소종합정(PCOS)상관역감기인——LHCGR、THADA화DENND1A기인위점다태성여대사표형적관계급역감기인적치병작용.방법 선택2006지2010년재산동대학부속성립의원생식의학중심문진취진적PCOS환자1489례(PCOS조),대조조위비PCOS차무대사이상적불잉환자4 708례;관찰PCOS역감기인위점2p16.3(LHCGR기인rs13405728위점)、2p21(THADA기인rs13429458、rs12478601위점)화9q33.3(DENND1A기인rs2479106、rs10818854위점)급각기인다태성위점불동기인형PCOS환자지간적당대사급혈지대사수평적차이.결과 THADA기인rs 12478601위점CC기인형환자혈청저밀도지단백담고순(LDL-C)수평교TC +TT기인형자[분별위(2.5±0.8)、(2.4±0.8) mmol/L]승고,차이유통계학의의(P=0.01);DENND1A기인rs2479106위점GG+AG기인형자구복포도당내량시험(OGTT)후2h이도소수평고우AA기인형자[분별위(71±65)、(64 ±50) mU/L,P=0.05],환자일급친속중당뇨병적발생솔야명현증가[분별위9.9％ (66/666)、6.9％ (52/751),P＜0.05];THADA기인rs13429458、DENND1A기인rs10818854、LHCGR기인rs13405728위점여환자대사표형무현저상관성(P＞0.05).결론 유전인소대PCOS환자적림상특점개변유일정영향,THADA기인여PCOS환자지대사관계밀절,DENND1A기인칙가능삼여료PCOS환자이도소대사과정,LHCGR기인여PCOS환자대사표형무명현상관성.
Objective To investigate the relationship between polycystic ovary syndrome (PCOS) susceptibility single nucleotide polymorphisms (SNP) and metabolic phenotypes in glucose and lipid metabolism and explore the pathophysiological mechanism of the susceptibility genes.Methods Three of PCOS susceptibility locus 2p16.3 (rs13405728 of LHCGR gene),2p21 (rs13429458,rs12478601 of THADA gene) and 9q33.3 (rs2479106,rs10818854 of DENNDIA gene) were selected and the metabolic phenotypes were compared between different genotypes of SNP in PCOS patients (using dominant model).Results Low-density lipoprotein cholesterol was significantly increased in CC genotype group than in TC + TT groups at rs12478601 of THADA gene [(2.5 ± 0.8),(2.4 ± 0.8) mmol/L; P =0.01].Serum insulin level of 2 hours after 75 g glucose intake was significantly higher in GG + AG groups than that of AA group at rs2479106 of DENND1A gene[(71 ±65),(64 ±50) mU/L;P =0.05],and the prevalence of type Ⅱ diabetes in first-degree relatives of patients were also increased [9.9％ (66/666),6.9％ (52/751) ; P ＜ 0.05].No association was found between metabolic phenotypes and genotypes of rs13429458,rs10818854,and rs13405728.Conclusions Genetic factors probably have effect on the metabolic characteristics of PCOS.THADA gene is related to lipid metabolism,while DENND1A gene may be involved in insulin metabolism in patients with PCOS.
