胎盘儿茶酚氧位甲基转移酶基因多态性与子痫前期的关系

目的:探讨胎盘儿茶酚氧位甲基转移酶(COMT)基因rs4680、rs6269位点单核苷酸多态性(SNP)与子痫前期发病的关系。方法:选择2011年3月至2012年8月在南方医科大学附属深圳市妇幼保健院产科住院分娩的孕妇217例,其中子痫前期孕妇92例为子痫前期组,健康孕妇125例为对照组,收集两组孕妇产后胎盘组织,提取胎盘DNA,应用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF-MS)平台及MassARRAY-IPLEX技术对COMT基因rs4680及rs6269位点进行检测,分析其基因型及等位基因分布情况。结果:胎盘组织COMT基因rs4680位点基因型GG、GA、AA的基因型频率和G、A等位基因频率在子痫前期组与对照组之间的分布差异均无统计学意义(P0.05)。两组胎盘COMT基因rs6269位点GG、GA、AA 3种基因型频率差异有统计学意义(P=0.019);且G、A等位基因频率在子痫前期组和对照组分布差异有统计学意义(χ2=6.382,P=0.012),A/G OR=1.707(95%CI=1.125~2.590)。胎盘COMT rs4680与rs6269单核苷酸多态性与孕妇血压无明显相关性。结论:胎盘COMT rs6269单核苷酸多态性与子痫前期发生相关,携带A等位基因是发生子痫前期的危险因素;胎盘COMT rs4680单核苷酸多态性与子痫前期发生无关。     

CTLA4基因rs231775位点多态性与淮安地区汉族孕妇子痫前期遗传易感性相关性的研究

目的探讨CTLA4基因单核苷酸多态性位点rs231775与淮安地区汉族子痫前期发病风险的相关性。方法选择2008年6月至2014年4月在江苏省淮安市妇幼保健院产科住院分娩的子痫前期患者392例,选择同期正常妊娠孕妇317例作为对照组,采用基质辅助激光解吸附电离飞行时间质谱对CTLA4基因rs231775位点进行基因分型。结果子痫前期组CTLA4基因rs231775多态性位点GG、AG和AA基因型频率分别为53%,39%和8%,等位基因频率G,A分别为72%和28%;而在对照组中GG、AG和AA频率分别为45%,41%和14%,等位基因频率G,A分别为65%和35%。经卡方检验rs231775位点在两组的基因型和等位基因频率之间差异有统计学意义(P=0.025)。结论淮安地区的人群CTLA4基因rs231775位点的多态性与子痫前期有一定的关联。     

脂联素基因多态性与妊娠期糖尿病的相关性研究

目的:探讨脂联素基因启动子区单核苷酸多态性与妊娠期糖尿病(GDM)的相关性。方法:采用基质辅助激光解吸电离飞行时间质谱(MALDI-TOFMS)技术,检测103例GDM孕妇和97例正常孕妇脂联素基因启动子区-11426A>G及-11377C>G多态位点,并测定40例未经任何治疗的GDM孕妇FINS、FPG、TC、TG、HDL-C、LDL-C、脂联素水平,同时计算稳态模型的胰岛素抵抗指数。结果:(1)GDM孕妇脂联素基因-11426A>G位点的AG、GG基因型频率显著高于对照组(χ2=8.822,P=0.012),G等位基因频率明显高于对照组(χ2=10.283,P=0.001)。-11377C>G位点基因型频率及等位基因频率在二组孕妇中分布无显著差异(P>0.05)。(2)GDM孕妇脂联素-11426A>G多态性位点AG+GG基因型组甘油三酯水平高于AA基因型组(P=0.023),血清脂联素水平低于AA基因型组(P=0.024)。结论:脂联素基因-11426A>G位点多态性可能与GDM的发生有关,G等位基因在GDM孕妇中分布频率增加,A→G突变可能通过降低血清脂联素水平参与GDM的发生。     

脂联素基因单核苷酸多态性与妊娠期糖尿病(GDM)及妊娠结局的关系研究

目的:探讨脂联素基因单核苷酸多态性+ 45 T/G及+276G/T与妊娠期糖尿病(GDM)及妊娠结局的关系.方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对158例GDM孕妇(GDM组)、128例妊娠期糖耐量异常孕妇(GIGT组)及120例糖耐量正常孕妇(对照组)脂联素基因启动子多态性位点(+ 45 T/G和+276 G/T)进行分析,并随访分析脂联素基因单核苷酸多态性与相应妊娠结局的关系.结果:①单核苷酸多态性+45 T/G:3组基因型频率比较,差异均无统计学意义(P＞0.05);GDM组和GIGT组的G等位基因频率均高于对照组(P＜0.05);携带G等位基因(杂合子TG型+纯合子突变GG型)的GDM组和GIGT组孕妇,其新生儿低血糖、巨大儿及新生儿窒息的发生率均明显高于未携带G等位基因(野生TT型)者(P＜0.05);②单核苷酸多态性+ 276 G/T:3组间的基因型及等位基因频率分布比较,差异均无统计学意义(P＞0.05);3组间携带突变T基因(杂合子GT型+纯合子突变TT型)的巨大儿、新生儿低血糖及新生儿窒息发生率与无突变T基因(野生GG型)者相比,差异均无统计学意义(P＞0.05).结论:脂联素基因单核苷酸多态性+45 T/G与GDM的发生存在一定关联,亦与其妊娠结局有关;单核苷酸多态性+276 G/T与GDM的发生及妊娠结局无明显关联.     

山东地区CYBA基因C242T位点多态性与重度子痫前期遗传易感性的相关性

目的:探究烟酰胺腺嘌呤二核苷酸磷酸(NADPH)氧化酶p22phox亚基CYBA基因的C242T位点单核苷酸多态性与重度子痫前期(PE)的相关性。方法:通过TaqMan探针进行实时荧光定量PCR,对1184例重度PE孕妇和1421例健康对照者进行CYBA基因C242T多态性分析。结果:重度PE孕妇与健康对照孕妇比较,CYBA基因C242T基因型和等位基因频率分布均无显著差异(P0.05);早发型、晚发型重度PE孕妇分别与健康对照孕妇比较,基因型和等位基因频率分布均无显著差异(P0.05);早发型和晚发型重度PE孕妇比较,基因型及等位基因频率分布均无显著差异(P0.05)。结论:CYBA基因C242T基因多态性可能与重度PE发生无相关性。     

VEGF基因多态性与不明原因复发性自然流产发生风险相关性的meta分析

目的:评价血管内皮生长因子(VEGF)基因的多态位点与不明原因复发性自然流产发生风险的相关性。方法:检索Pubmed数据库、Medline数据库、Cochrane图书馆数据库、中国知网(CNKI)、维普中文科技期刊数据库、万方数据库、中国生物医学文献数据库中有关VEGF基因多态性与不明原因复发性自然流产的病例-对照研究,对纳入的研究进行质量评价,采用Rev Man5.3软件进行数据分析。结果:最终纳入11篇文献对VEGF基因的-634G/C(rs2010963)、+936C/T(rs3025039)、-2578C/A(rs699947)及-1154G/A(rs1570360)4个位点进行评价,累计病例组1945例,对照组2074例。Meta分析结果显示,在VEGF基因的-634G/C位点,基因型CC发生复发性自然流产的风险高于基因型GG[P=0.03,OR=1.29,95%CI(1.03,1.63)];携带等位基因C妇女的发病风险高于携带等位基因G[P=0.02,OR=1.14,95%CI(1.02,1.27)]。+936C/T位点的CT、TT基因型及携带T等位基因发生复发性自然流产的风险高于CC基因型及携带C等位基因的女性[CT vs CC基因型:P0.0001,OR=1.40,95%CI(1.18,1.65),TT vs CC基因型:P=0.02,OR=1.72,95%CI(1.11,2.66),T vs C等位基因:P0.00001,OR=1.52,95%CI(1.30,1.78)];两组的-1154G/A、-2578C/A各基因型比较,差异均无统计学意义(P0.05)。结论:VEGF基因-634G/C(rs2010963)、+936C/T(rs3025039)位点的单核苷酸多态性与不明原因的复发性流产发生可能相关。     

不良孕产史人群中血栓前状态易感基因分布调查CSCD

目的 探究血栓前状态易感基因多态性在不良孕产史人群中的分布。方法 收集2018年12月至2021年6月在山西省太原市妇幼就诊的410例有不良孕产史的女性(病例组)和111例无不良孕产史备孕女性(对照组)作为研究对象。采集两组人群EDTA抗凝全血,提取其基因组DNA,利用荧光定量PCR技术检测血栓前状态易感基因多态性在两组人群中的分布。结果 (1) MTHFR A1298 C、PAI-1 5G/4G、FⅤA1691G、FⅡG20210A基因多态性在对照组和病例组中分布差异无统计学意义(P> 0.05);(2) MTRR A66G位点AA、AG、GG基因型在对照组和病例组中分布差异有统计学意义(P <0.05);(3) MTHFR C677T位点AA、AG、GG基因型及G、A等位基因频率在对照组和病例组中的分布差异有统计学意义(P <0.05)。结论 血栓前状态易感基因MTRR A66G位点、MTHFRC677T位点多态性与不良孕产史密切相关。     

四氢叶酸还原酶基因多态性与子痫前期相关性的研究

目的:探讨四氢叶酸还原酶(MTHFR)基因C677T多态性在子痫前期发病机制中的作用.方法:选择妊娠期高血压疾病组孕妇80例,其中妊娠期高血压组19例、轻度子痫前期组25例,重度子痫前期组36例;并随机选取同期的正常晚期妊娠者60例为正常对照组.分别用过柱法提取基因型DNA,并行聚合酶链反应物-直接测序法检测和分析MTHFR基因中C677T的分型.结果:妊娠期高血压疾病组中C677/T677基因型与正常对照组比较,差异有统计学意义(P<0.05),妊娠期高血压疾病组T677等位基因频率(48.8%)高于正常对照组(32.5%),两组比较,差异有统计学意义(P<0.05);正常对照组与轻度子痫前期组及重度子痫前期组的C677/T677基因型和T677等位基因频率比较,差异有统计学意义(P<0.05),与妊娠期高血压组比较差异无统计学意义(P>0.05).结论:妊娠期高血压疾病患者的MTHFR基因C677T多态性可能是子痫前期发生的诱因之一;T677等位基因可能是子痫前期的易感基因.     

子痫前期患者内皮素受体A基因G-231A多态性的研究

目的:探讨内皮素受体A(EDNRA)G-231A基因多态性与子痫前期有无关联。方法:用聚合酶链反应-限制性片段长度多态性分析法(PCR-RFLP),对成都地区220例子痫前期患者(其中轻度71例,重度149例)和270例健康对照组孕妇EDNRA基因G-231A多态性进行检测。结果:子痫前期组和正常孕妇组EDNRA基因G-231A位点A等位基因频率分别为35.9%、31.3%,两组之间等位基因频率分布无显著差异(P>0.05);重度子痫前期组与轻度子痫前期组比较,A等位基因频率分别为36.3%、35.2%,二者无显著差异(P>0.05)。此外,子痫前期组和正常孕妇组不同基因携带者收缩压和舒张压水平无统计学差异(P>0.05)。结论:本研究未发现EDNRA基因G-231A多态性与子痫前期发病有关联。     

支气管肺发育不良患儿肺表面活性蛋白-B基因9306(A/G)多态性

目的 了解支气管肺发育不良(bronchopulmonary dysplasia,BPD)患儿肺表面活性蛋白-B(surfactant protein-B,SP-B)基因9306 (A/G)位点多态性的分布情况. 方法 研究对象为2008年1月1日至2012年6月30日华中科技大学同济医学院附属同济医院新生儿重症监护病房收治的86例BPD患儿与156例无相关疾病的患儿(对照组),采用限制性片段长度多态性-聚合酶链反应技术检测SP-B基因9306 (A/G)位点基因型,样本的群体代表性进行Hardy-Weinberg平衡检验;2组病例基因型频率比较采用Armitage's趋势检验. 结果 BPD组AA基因型频率为67.4％(58/86),AG基因型频率为23.3％(20/86),GG基因型频率为9.3％(8/86),对照组各基因型频率分别为63.5％(99/156)、30.8％(48/156)和5.8％(9/156),2组差异没有统计学意义(x2=0.003,p=0.957).BPD组A等位基因频率为79.1％(136/172),G等位基因频率为20.9％(36/172),对照组A、G等位基因频率分别为78.8％(246/312)和21.2％(66/312),2组差异没有统计学意义(x2=0.003,P=0.954). 结论 汉族婴儿SP-B基因9306 (A/G)位点的基因多态性与BPD发病无直接相关性.     

Fas and FasL genetic polymorphisms in women with recurrent pregnancy loss: a case-control study

Aberrant apoptosis at the trophoblast–maternal interface and abnormal expression of Fas and Fas ligand (FasL) have been reported in complicated pregnancies with recurrent pregnancy losses (RPL) and preeclampsia. We assessed the prevalence of Fas and FasL genetic polymorphisms in Korean women with RPL and in fertile controls. In total, 306 women with RPL and 298 fertile controls were enrolled. Genotype distributions of Fas and FasL in RPL patients versus fertile controls were examined under the Hardy–Weinberg equilibrium. Fas ?670 A/G genotype (AA versus AG versus GG, p?=?0.340) and allele frequencies (A versus G, p?=?0.412) were not different between the RPL and control groups. There was no difference in each Fas ?1377?G/A and FasL ?844 C/T genotype, and their allele frequencies. In addition, the unions of two zygosities of each genotype and their combined genotypes did not differ between two groups. No difference in the prevalence of Fas and FasL single-nucleotide polymorphisms (SNPs) was observed between women with RPL and fertile controls among Korean women. To determine the possibility of genetic polymorphisms in Fas and its ligand as risk factors for RPL, further studies in various races and a large study population are needed.     

Heterozygosity in CTLA-4 gene and severe preeclampsia.

OBJECTIVE: One of the major complications of pregnancy, preeclampsia makes pregnancy termination inevitable in most cases. Similarities exist between the mechanisms that maintain normal pregnancy, allograft transplants, and, it is postulated, peripheral self-tolerance. In addition, the critical role of the cytotoxic T-lymphocyte antigen-4 (CTLA-4) molecule in maintaining self-tolerance has been established. Therefore, the frequency of CTLA-4 A49G polymorphism was investigated in severe preeclampsia. PATIENTS AND METHODS: Genomic DNA extracted from mononuclear cells of the peripheral blood of 36 pregnant women with severe preeclampsia and 151 healthy women was analyzed. A49G polymorphism in position 49 of exon-1 of the CTLA-4 gene was studied by the polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) method. RESULTS: The frequency of the GG genotype was 2 (5.6%) in patients and 19 (12.6%) in controls, while the frequency of the AA genotype was 4 (11.1%) and 60 (39.7%). Interestingly, the frequency of the AG genotype was significantly higher in preeclamptic than in healthy women from the general population (83.3% vs. 47.7%; P=0.0005). CONCLUSION: These data suggest that heterozygosity in the CTLA-4 A49G allele might be a predisposing factor for severe preeclampsia. Whether the observed association results from linkage imbalance with other loci on chromosome 2 or other polymorphisms of the CTLA-4 gene or even from a preferential transfer and/or expression of one allele from a heterozygous mother to the fetus will be the subject of future investigations.     

The promoter region (-800, -509) polymorphisms of transforming growth factor-beta1 (TGF-beta1) gene and recurrent spontaneous abortion

Recurrent spontaneous abortion (RSA) is regarded as a common pregnancy complication in southern Iran. The exact causes of RSA are not yet known. Transforming growth factor-beta1 (TGF-beta1) is produced by T regulatory lymphocytes (Treg), which play an important role in the physiology of pregnancy. Several polymorphisms of the TGF-beta1 gene have been reported, some with important correlation with disease severity. In this investigation, the polymorphism of the TGF-beta1 gene at promoter region positions -800 (G/A) and -509 (C/T) was studied in 111 RSA and 110 normal female subjects from southern Iran by PCR-RFLP. Results indicated that at position -800 (G/A) polymorphism, 75.7% of RSA cases and 77.3% of normals were homozygote GG. In addition, 23.4% of cases and 22.7% of normal individuals were heterozygote AG. Only one of the patients appeared to be homozygote AA. None of the normal individuals were found to be homozygote AA at this position. In the case of the -509 (C/T) polymorphism, 38.7% of patients and 28.2% of controls were homozygote CC. While 40.6% of cases and 50.9% of normal individuals were heterozygote CT, 20.7% of RSA cases and 20.9% of controls were homozygote TT. The results indicate that there are no statistically significant differences of genotype distribution and allele frequency between RSA cases and controls at both polymorphic sites. In conclusion, the promoter region polymorphisms of TGF-beta1 at positions -800 (G/A) and -509 (C/T) may not be associated with RSA.     

Haplotype analysis of TGF-β1 gene in a preeclamptic population of northern Mexico

ObjectiveTo determine the frequencies of −800G/A (rs1800468), −509C/T (rs1800469) and 869T/C (rs1800470) polymorphisms and their haplotypes in the TGF-β1 gene and their association with preeclampsia in a population of northern México.Design and methodsThis case-control study involved 175 preeclamptic and 253 normoevolutive pregnant women. The polymorphisms were genotyped by real time PCR.ResultsThe allele and genotype frequencies of polymorphisms showed no significant differences between cases and controls; the −800AA genotype had a very low frequency in cases (1%) and controls (0.4%). The TT genotype of the 869T/C polymorphism is a protective factor of severe preeclampsia (OR 0.56, 95% CI 0.32–0.98). The −509C/T and 869T/C polymorphisms were in linkage disequilibrium (D′ = .537, p = .009). The most common haplotypes in case and control groups were −800G/−509C/869C, 34.95% and 37.24%, respectively. We found no increased risk of preeclampsia by haplotype.ConclusionsOur results suggest that −800G/A, −509C/T and 869T/C polymorphisms of TGF-β1 gene or their haplotypes are not associated with preeclampsia and that only the TT genotype of 869T/C polymorphism is a protective factor of severe preeclampsia in a population of northern México.     

血浆同型半胱氨酸与子(癎)前期发病的关系

目的 研究孕妇血浆同型半胱氨酸(homocysteine,Hcy)水平和亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因C677T的多态性,以探讨其在子癎前期发病中的作用.方法 选取子癎前期孕妇50例(子痴前期轻度14例,子癎前期重度36例),正常孕妇40例为研究对象.采用荧光偏振免疫法测定血浆Hcy水平,PCR法检测MTHFR基因C677T的多态性.结果 研究组Hcy水平显著高于对照组[(12.00±4.59)μmol/L和(7.85±1.51)μmol/L,P<0.05];轻度子癎前期组Hcy水平[(8.63±3.94)μmol/L高于对照组,但差异无统计学意义(P>0.05),重度子癎前期组Hcy水平(13.30±2.06)μmol/L]明显高于对照组(P<0.01);子痢前期组MTHFR基因677位点CT、TT基因型频率分布(C/T:42.0%;T/T:14.0%)和子癎前期组总的突变T等位基因频率(T:35.0%)均显著高于对照组(P<0.05).结论 血浆Hey水平升高可能是子瘸前期发病机制中的重要因素,而MTHFR基因C677T多态性影响了Hcy的代谢途径.可能是子癎前期的病因学机理之一.     

Association of methylenetetrahydrofolate reductase C677T polymorphism with the pre-eclampsia risk in Hakka pregnant women in Southern China

Abstract

The aim of this study is to clarify the possible association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and pre-eclampsia in Hakka pregnant women in southern China. Pre-eclampsia and normal pregnant women were consecutively collected and MTHFR C677T genotypes were determined by the DNA sequencing method. One hundred and thirteen pre-eclampsia patients were CC homozygote (113 of 191, 59.2%), 68 of 191 (35.6%) were CT heterozygote, and 10 of 191 (5.2%) were TT homozygote, with the frequency of the T allele equal to 0.77. This is in comparison with the normal control group where 106 of 202 (52.5%) were CC homozygote, 83 of 202 (41.1%) were CT heterozygote, and 13 of 202 (6.4%) were TT homozygote, with the frequency of the T allele equal to 0.27. No statistically significant differences were observed in genotype or allele frequencies between the pre-eclampsia and normal control for the C677T polymorphism of MTHFR gene (p?>?.05). The findings of this study suggest that polymorphisms of MTHFR C677T genes were not associated with pre-eclampsia in Hakka pregnant women from southern China, but additional studies are necessary to explore the mechanisms involving it.     

Association between polymorphisms in IL-27 gene and pre-eclampsia

Pre-eclampsia is a complex pregnancy-specific hypertensive syndrome, and it is a leading cause of maternal and neonatal death worldwide. We aimed to evaluate the associations between polymorphisms of IL-27 gene and pre-eclampsia susceptibility in Han Chinese women.Methods663 pregnant women were enrolled in a case-control study (212 cases and 451 normal pregnancies). The rs153109 and rs17855750 variants were discriminated using Polymerase Chain Reaction – Restriction Fragment Length Polymorphism (PCR–RFLP) methods.ResultsA significantly reduced risk of pre-eclampsia was observed in the rs153109 GG genotype compared with the AA or AA/AG genotypes (GG versus AA: OR = 0.51, 95%CI = 0.30–0.86; GG versus AA/AG: OR = 0.60, 95%CI = 0.37–0.98). Significantly reduced pre-eclampsia susceptibility was also associated with the AG/GG genotypes of rs153109 (OR = 0.68, 95%CI = 0.49–0.94) in dominant model. After stratification analysis, the different distribution of AG/GG genotypes was particular significant in the severe pre-eclampsia subgroup (OR = 0.65, 95%CI = 0.45–0.92) and the early-onset severe pre-eclampsia subgroup (OR = 0.51, 95%CI = 0.30–0.87). Additionally, significantly increased mild pre-eclampsia risk was observed associated with rs17855750 GT/GG and GT genotypes when compared with TT and TT/GG genotypes (GT/GG versus TT: OR = 2.27, 95%CI = 1.12–4.55; GT versus TT/GG: OR = 2.56, 95%CI = 1.28–5.26).ConclusionIt is biologically plausible that SNPs in IL-27 may have effect on individual susceptibility to pre-eclampsia. The results suggest the presence IL-27 rs153109, rs17855750 variants may be able to be used as markers for the genetic susceptibility to pre-eclampsia.     

不良孕产史人群中血栓前状态易感基因分布调查

Objective?To explore the distribution of prethrombotic state susceptibility gene polymorphisms in the population with a history of poor pregnancy. Methods?From December 2018 to June 2021, 410 women with a history of poor pregnancy and childbirth (research group) and 111 normal women (control group) were collected as the research subjects. EDTA anticoagulated whole blood of the two groups were collected,its genomic DNA were extracted,fluorescence quantitative PCR technology was used to detect the distribution of prethrombotic state susceptibility gene polymorphisms. Results?① There was no significantly difference in MTHFR A1298 C, PAI-1 5G/4G, FⅤ A1691G, FⅡG20210A gene polymorphisms between the two group (P>0.05);② There were significantly difference in the distribution of genotypes in MTRR A66G sites AA,AG,GG between the two group (P<0.05).③ There were significantly difference in the AA,AG,GG genotypes and the G, A allele frequencies at the C677T site of MTHFR between the two group (P<0.05). Conclusion?The prethrombotic state susceptibility gene MTRR A66G locus and MTHFR C677T locus polymorphisms are related to the history of adverse pregnancy and childbirth.     

原因不明复发性流产患者细胞毒性T淋巴细胞抗原4基因第一外显子49位点A/G基因多态性研究

目的探讨细胞毒性T淋巴细胞抗原4（CTLA-4）基因第一外显子49位点A／G基因多态性与原因不明复发性流产（URSA）发病的相关性。方法采用PCR限制性片断长度多态性方法（PCR-RFLP）,检测168例URSA患者（URSA组）和117例有正常生育史的妇女（对照组）CTLA-4基因第一外显子49位点A／G多态性,并比较等位基因G／A、基因型AA／AG／GG、表型A＋（AA＋AG）／G＋（GG＋AG）分布频率的差异。结果URSA组等位基因G的出现频率为68．4％（230／336）,对照组为59．4％（139／234）,两组比较,差异有统计学意义（P〈0．05）;基因型GG的出现频率URSA组为48．8％（82／168）,对照组为33．3％（39／117）,两组比较,差异也有统计学意义（P〈0．05）;URSA组基因型AG、基因表型A＋（AA＋AG）的频率分别为39．3％（66／168）、51．2％（86／168）,对照组分别为52．1％（61／117）、66．7％（78／117）,两组比较,差异均有统计学意义（P〈0．05）。结论CTLA-4基因第一外显子49位点A／G多态性与URSA的发生存在相关性,并可能参与流产发生的免疫病理过程。     

Association between endometriosis and polymorphisms in tumor necrosis factor-related apoptosis-inducing ligand (TRAIL), TRAIL receptor and osteoprotegerin genes and their serum levels

Purpose

To evaluate the relationship between endometriosis and polymorphisms in the genes encoding tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL), TRAIL receptor (DR) and osteoprotegerin (OPG) and their serum levels in Korean women.

Methods

A case?Ccontrol study was conducted with 138 women with endometriosis and 214 women without endometriosis in academic medical center. TRAIL c.49G>A, c.592A>G, c.615A>G, and c.662T>C; DR4 c.626G>C and c.1322A>G; DR5 c.95C>T, c.200C>T, and c.72T>G; OPG ?245T>G, c.9C>G, c.788A>C, and c.9938G>T polymorphisms were investigated and circulating levels of TRAIL and OPG were measured.

Results

The TRAIL c.49G>A, c.615A>G, and c.662T>C; the DR4 c.626G>C; the DR5 c.72T>G; the OPG c.788A>C and c.9938G>T polymorphisms were not observed. The genotype distributions and allele frequencies of single or combined polymorphisms of TRAIL, DR4, DR5, and OPG measured in women with endometriosis were not different from those in women without endometriosis, regardless of endometriosis stage. Serum TRAIL and OPG levels were significantly lower in women with endometriosis than in women without endometriosis, but these levels did not show differences between early and advanced endometriosis.

Conclusions

Endometriosis is associated with circulating TRAIL and OPG levels in Korean women but not with the TRAIL, DR, and OPG polymorphisms.