雌激素受体1基因多态性与不明原因复发性流产关系

目的:探究雌激素受体1(ESR1)基因多态性与不明原因复发性自然流产(URSA)关系。方法:选取本院88例URSA患者为URSA组,70例正常者为对照组,采用聚合酶链式反应-限制性片段多态性法检测外周血ESR1基因rs22234693、rs9340799、rs2046210位点多态性,酶联免疫吸附法检测血清雌二醇(E2)水平,化学发光法检测促卵泡刺激素(FSH)水平;胶体金法检测血清促黄体生成素(LH)水平,Hardy-weinberg遗传平衡定律验证基因型频率;logistic回归分析ESR1基因型与URSA发生风险关系;分析各位点基因型与激素水平关系。结果:URSA组FSH水平高于对照组,E2、LH水平低于对照组(P<0.05)。两组ESR1基因rs22234693、rs9340799、rs2046210位点基因频率符合Hardy-Weinberg遗传平衡定律。rs22234693位点T等位基因频率、rs9340799位点G等位基因频率、rs2046210位点T等位基因频率均高于对照组(P<0.05)。rs22234693、rs9340799、rs2046210位点突变型者血清E2、LH水平低于对照组(P<0.05)。rs22234693 TT和TC基因携带者发生URSA风险的相对危险度分别为CC等位基因的1.756倍和2.432倍,rs9340799 GG、AG基因携带者的发生URSA风险的相对危险度分别为AA等位基因的1.237倍和1.746倍,rs2046210 TT和TC基因携带者的发生URSA风险的相对危险度分别为CC等位基因的1.354倍和1.824倍。结论:ESR1基因rs22234693、rs9340799、rs2046210位点多态性与URSA发生有关,rs22234693位点C→T突变、rs9340799 A→G突变、rs2046210 C→T突变可增加URSA的发病风险。     

雌激素受体1基因多态性与早产儿脑室内出血相关性的研究

目的 检测早产儿血中雌激素受体1(ESR1)基因多态性,并分析其与早产儿脑内出血症(IVH)的相关性,从而了解早产儿脑室内出血的发病基础和影响因素,做到更好地针对病因的预防、诊断、治疗,进一步改善预后。方法 选取2012年1月-2015年2月经头颅CT检查后诊断为脑室内出血的早产儿45例,正常对照组50例。采用PvuⅡ内切酶对病样及正常样本的ESR1基因的多态性进行检测,分析ESR1基因多态性在早产儿脑室内出血患儿中的基因型分布及相关性。结果 显示早产儿脑室内出血患儿的ESR1基因呈多态性分布,rs2234693位点基因型主要有CC基因型(213 bp)、TT基因型(179/34 bp) 和CT基因型(213/179/34 bp)三种,IVH实验组ESR1(rs2234693)位点的TC与TC基因型频率均高于对照组,两组之间差异有统计学意义(χ²=6.57,P<0.05)。IVH实验组ESR1(rs2234693)位点的T等位基因频率均高于对照组,两组之间差异有统计学意义(χ²=5.40,P<0.05)。结论 ESR1基因rs2234693位点T等位基因与早产儿脑室内出血存在某种相关性。     

Early users of fertility treatment with hormones and IVF: women who live in major cities and have private health insurance

Objective: To identify early users (women aged <34 years) of fertility treatment with hormones and in vitro fertilisation (IVF). Methods: A cross‐sectional survey of infertile women from fertility clinics (n=59) and from the community (Australian Longitudinal Study on Women's Health participants) who had (n=121) or had not (n=110) used hormones/IVF as treatment for infertility. Associations between socio‐demographic, reproductive and lifestyle factors, medical conditions and recurrent symptoms and using treatment (or not) were analysed using multivariable logistic regression. Results: Among infertile women who had used treatment (community vs clinic), women from clinics had lower odds of living outside major cities, using hormones only, i.e., not IVF, or recurrent headaches/migraines, severe tiredness, or stiff/painful joints; and higher odds of recent diagnoses of urinary tract infection or anxiety disorder. Compared to infertile women who had not used treatment, women from clinics had lower odds of living outside major cities, recurrent allergies or severe tiredness; and higher odds of having private health insurance for hospital or ancillary services, recent diagnosis of polycystic ovary syndrome or recurrent constipation. Conclusions: Compared to infertile women in the community, living in major cities and having private health insurance are associated with early use of treatment for infertility at specialist clinics by women aged <34 years. Implications: These results provided evidence of inequity of services for infertile women.     

Leptin and leptin-receptor polymorphisms in fertile and infertile men

The association of leptin (LEP) -2548G/A and/or leptin receptor (LEPR) Gln223Arg polymorphisms with male infertility and plasma FSH, LH, and testosterone (T) levels was examined. The genotypes and allele frequency distributions of LEP -2548G/A and LEPR Gln223Arg polymorphisms were investigated in 150 fertile and 150 infertile men by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Also, plasma levels of FSH, LH, and T were measured using commercial ELISA kits. Frequencies of AA, AG and GG genotypes of LEP-2548G/A polymorphism were statistically different in fertile and infertile men (p=0.012). The AG genotype showed a protective effect which could decrease risk of male infertility about 3 fold (p = 0.004). We did not observe any differences in frequencies of LEPR Gln223Arg alleles and genotypes between groups (p > 0.05). Sperm counts from infertile men with the AG and GG genotypes of the LEP polymorphism were significantly higher than AA genotype (p<0.05). Moreover, infertile men who carried the RR genotype of LEPR showed a statistically higher percentage of sperm with progressive motility than individuals with other genotypes (p = 0.004). There was no correlation between different combinations of LEP and LEPR genotypes and LH, FSH, and T levels (p > 0.05). Our study suggests that the LEP -2548G/A polymorphism may play a role in male fertility and the AG genotype may have a protective effect through increasing sperm counts. The distribution of genotypes of LEP -2548G/A polymorphism are different in fertile and infertile males and may be a useful tool in evaluation of male infertility.

Abbreviations: LEP: leptin; LEPR: leptin receptor; T: testosterone; FSH: follicle-stimulating hormone; LH: luteinizing hormone     

Effect of resistin on estradiol and progesterone secretion from human luteinized granulosa cells in culture

ABSTRACT

Information on the role of resistin on steroidogenesis is limited to animal studies. The aim of this study was to investigate the effect of various doses of resistin on estradiol and progesterone secretion from human luteinized granulosa cells in culture. Granulosa cells were obtained from follicular fluid aspirated from 50 women undergoing in vitro fertilization (IVF) treatment. The cells were cultured for 48 h after a 24 h pre-incubation period. The effect of resistin at dosages 1, 10 and 100 ng/ml alone or in combinations with FSH (10 and 100 ng/ml) on steroidogenesis was investigated. Estradiol and progesterone were measured by radioimmunoassays in culture supernatants at 24 h and 48 h. FSH treatment increased both estradiol and progesterone secretion. Resistin suppressed basal estradiol (at 1 ng/ml) and progesterone secretion (at all concentrations tested). When resistin (all concentrations) was combined with FSH (100 ng/ml), it eliminated the stimulatory effect of FSH on the secretion of estradiol and progesterone. This study indicates an inhibitory effect of resistin on the secretion of estradiol and progesterone by human luteinized granulosa cells in vitro. It is likely that this adipokine locally affects ovarian function in women.

Abbreviations: 3β-HSD: 3β-hydroxysteroid dehydrogenase; CAP1: cyclase-associated protein 1; DCN: decorin; FIZZ: Found in Inflammatory Zones; hCG: human chorionic gonadotropin; IGF1: insulin-like growth factor type 1; IVF: in vitro fertilization; PCOS: polycystic ovary syndrome; RIA: radioimmunoassay; ROR1: receptor tyrosine kinase-like orphan receptor-1; TLR4: Toll–like receptor 4     

Luteal-phase ovarian stimulation increases the number of mature oocytes in older women with severe diminished ovarian reserve

In older women with severe diminished ovarian response (DOR), in vitro fertilization (IVF) treatment is much less successful due to the low number of mature oocytes collected. The objective of this study was to assess whether follicular-phase stimulation (FPS) and luteal-phase stimulation (LPS) in the same menstrual cycle (double ovarian stimulation) in older women with severe DOR will produce a higher number of oocytes compared to FPS alone. Women with DOR (n = 69; mean age = 42.4) who underwent double ovarian stimulation for IVF were included. Women underwent ovarian stimulation in FPS using clomiphene citrate, letrozole, and gonadotropins followed by oocyte retrieval. The next day following oocyte retrieval, women underwent a second ovarian stimulation (LPS) using the same medications followed by a second oocyte retrieval. T-test was performed in order to compare the clinical characteristics and outcome in the same participant between FPS and LPS. Although antral follicle count at the start of FPS tended to be higher than at the start of the LPS cycle, there was no statistically significant difference between the duration of ovarian stimulation, peak estradiol levels, number of small (<14 mm) or large (≥ 14 mm) follicles, the total number of oocytes retrieved, or the total number of mature oocytes. Each woman had double the number of mature oocytes collected following a double ovarian stimulation compared to FPS alone. The addition of LPS to the conventional FPS increases the number of mature oocytes retrieved in the same IVF cycle, thus potentially increasing the chances of pregnancy in older women with severe DOR.

Abbreviations: AFC: antral follicle count; BMI: body mass index; DOR: diminished ovarian reserve; E2: estradiol; FPS: follicular-phase stimulation; FSH: follicle stimulating hormone; GnRH: gonadotropin-releasing hormone; HCG: human chorionic gonadotropin; IRB: institutional review board; IVF: in vitro fertilization; LH: luteinizing hormone; LPS: luteal-phase stimulation; MII: metaphase II     

Association of PvuII and XbaI polymorphisms in estrogen receptor alpha gene with the risk of hepatitis B virus infection in the Guangxi Zhuang population

Background and objectiveAvailable evidence has suggested that estrogen receptor alpha (ESR1) is implicated in the pathogenic process of hepatitis B infection. Therefore, we evaluated the association of PvuII (rs2234693) and XbaI (rs9340799) in ESR1 and HBV infection in Guangxi Zhuang populations.MethodsA total of 389 subjects were divided into four groups: 112 patients with chronic hepatitis B (CHB), 65 patients with hepatitis B virus (HBV)-related liver cirrhosis (LC), 107 patients with HBV-related hepatocellular carcinoma (HCC), and 105 healthy controls. The polymerase chain reaction–restriction fragment length polymorphism strategy was used to detect ESR1 gene PvuII and XbaI polymorphisms.ResultsCompared with healthy controls, binary logistic regression analyses show that the CC genotype of PvuII was associated with a significantly increased susceptibility to CHB compared with the TT genotype (OR = 1.760, 95% CI 1.316–2.831; p = 0.044). The PvuII CC genotype was also associated with significantly increased risk of HBV-related LC (OR = 1.921, 95% CI 1.342–2.478; p = 0.043). Similarly, the subjects bearing the homozygous CC genotype of PvuII polymorphism also had more than a 1.7-fold increased risk for development of HCC (OR = 1.748, 95% CI 1.313–2.787; p = 0.010) compared with those bearing the TT genotype. Furthermore, the AC haplotype was associated with a significantly increased risk of HCC with an OR of 1.456 (p = 0.003). In contrast, there were no significant differences in the genotype and allele of XbaI polymorphisms in the ESR1 gene between the groups of patients and healthy controls. In addition, ESR1 polymorphisms were not significantly associated with susceptibility to HBV-related HCC when using CHB and LC patients as references.ConclusionWe conclude that the CC genotype of PvuII in ESR1 is associated with an increased risk of CHB, HBV-related LC and HCC in Guangxi Zhuang populations.     

Association of Luteinizing hormone and LH receptor gene polymorphism with susceptibility of Polycystic ovary syndrome

ABSTRACT

Altered folliculogenesis and reproductive anomalies in polycystic ovary syndrome (PCOS) suggest that variations of genes involved in folliculogenesis might influence etiopathogenesis of this syndrome. The objective of this study was to assess the association of LHβ (rs1056917) and lutropin receptor (LHR) (rs61996318) polymorphism with polycystic ovarian syndrome and to interrelate the levels of luteinizing hormone (LH) with severity of clinical manifestations of PCOS. Three hundred women of reproductive age were enrolled in this retrospective case-control study. Rotterdam Criteria was used to diagnose PCOS patients. Nucleotide mutations of LH and LHR gene was analyzed using polymerase chain reaction-restriction fragment length polymorphism. High LH levels were found in 88% of PCOS patients. LHβ TC and CC genotypes were significantly associated with PCOS risk (OR [odds ratio] 13.95, CI [confidence interval] 6.30–30.86, p < 0.0001 and OR 3.31, CI 1.30–8.41, p = 0.01). The frequency of the C allele was 0.31 in PCOS and 0.02 in controls (OR 18.80, CI 8.54–41.37, p < 0.0001). LHR CA and AA genotype conferred a significant risk in development of PCOS (OR 5.07, CI 2.50–10.31, p < 0.0001). The frequency of the A allele was 0.51 in PCOS and 0.03 in controls (OR 26.62, CI 13.99–50.65, p < 0.0001). The results show an association between polymorphism of LHβ, LHR and PCOS, indicating that variants of these genes may affect the metabolic pathways involved in this syndrome. Majority of the affected women were found to have elevated LH levels. This study sheds new light in the diagnosis, treatment and management of PCOS syndrome.

Abbreviations: AUC: area under curve; BMI: body mass index; C: cholesterol; CI: confidence interval; DBP: diastolic blood pressure; DHEAS: dehydroepiandrosterone sulfate; FG: Ferriman–Gallway; FSH: follicle stimulating hormone; GHQ: general health questionnaire; HA: hyperandrogenism; HDL-C: high-density lipoprotein cholesterol; HOMA-IR: homeostatic model assessment for insulin resistance; HWR: hip waist ratio; LDL-C: low-density lipoprotein cholesterol; LH: luteinizing hormone; LH: luteinizing hormone; LHR: lutropin receptor; O: oligomenorrhea; OR: odds ratio; PCO: polycystic ovaries; PCO: polycystic ovary; PCOS: polycystic ovary syndrome; PCR: polymerase chain reaction; ROC: receiver operating curve; SBP: systolic blood pressure; SE: standard error of coefficient; SNP: single nucleotide polymorphism; TG: triglycerides; TSH: thyroid stimulating hormone; VD: vitamin D     

补充维生素D与体外受精/卵胞浆内单精子注射-胚胎移植周期结局关系的研究

目的 探讨对维生素D缺乏的不孕症女性进行维生素D补充与体外受精/卵胞浆内单精子注射-胚胎移植(in-vitro fertilization/intracytoplasmic sperm injection-embryo transplantation,IVF/ICSI-ET)周期结局的关系.方法 选择2019年1月至2...     

肥胖相关基因多态性与妊娠期糖尿病发病风险的关系

目的 探讨肥胖相关（FTO）基因及多态性位点与妊娠期糖尿病（GDM）发病风险的关系,为GDM机制研究提供线索与依据。方法 以2012年3月1日至2014年7月30日在山西医科大学第一医院产科分娩的孕妇为研究对象,将诊断为GDM的孕妇作为病例组,并按年龄、妊娠时间及居住地1：1频数匹配非GDM孕妇作为对照组,最终纳入324例病例和318例对照,提取孕妇外周血DNA并进行基因分型,应用min P检验和非条件logistic回归分析FTO基因及多态性位点与GDM发病风险的关系。结果 min P法结果显示,FTO基因与GDM发病风险无关（P>0.05）。在调整糖尿病家族史、孕前BMI且调整多重比较后,非条件logistic回归分析结果显示,在FTO基因的多态性位点中,携带rs11075995位点TT基因型与AA基因型孕妇相比（OR=0.59,95% CI：0.35～0.89）,携带rs3826169位点GG基因型与携带AA基因型孕妇相比（OR=0.59, 95% CI：0.35～0.88）,携带rs74245270位点GA基因型（OR=0.69,95% CI：0.49～0.98）、GA或AA基因型（OR=0.70,95% CI：0.50～0.97）与GG基因型孕妇相比,均是GDM的保护因素;相反,携带rs74018601位点GA基因型（OR=1.51,95% CI：1.07～2.12）、GA或AA基因型（OR=1.46,95% CI：1.06～2.02）与GG基因型孕妇相比,携带rs7205009位点AA基因型（OR=1.83,95% CI：1.18～2.86）、GA或AA基因型（OR=1.53,95% CI：1.08～2.19）与携带GG基因型孕妇相比,携带rs9888758位点AG基因型与携带AA基因型孕妇相比（OR=1.43,95% CI：1.02～2.00）,均是GDM的危险因素。结论 FTO基因rs11075995、rs3826169、rs74245270、rs74018601、rs7205009与rs9888758位点多态性与GDM的发病风险有关。     

Clinical and endocrine features of Brazilian infertile women with or without endometriosis: A comparative cross-sectional study

ObjectiveTo compare the clinical and endocrinological features of infertile Brazilian woman with or without endometriosis.MethodsThis is a cross-sectional comparative study including infertile patients without an established indication for in vitro fertilization or intracytoplasmatic sperm injection at a tertiary center for reproductive medicine. A complete investigation of the cause of female infertile included videolaparoscopy for pelvic cavity and peritoneal factor evaluation.ResultsAverage patient age was (31.6±4.6) years. Sixty-nine percent patients presented with dysmenorrhea, 38% with bowel disturbances, and 21% with deep dyspareunia. Endometriosis was found in 76% of patients, and 91% had primary infertility. Dysmenorrhea was the only symptom that was more prevalent in infertile women with endometriosis. Compared to those without, patients with endometriosis had higher levels of follicle-stimulating hormone (FSH), prolactin (PRL), thyroid-stimulating hormone (TSH), and carcinogen antigen-125 and lower levels of luteinizing hormone (LH), estradiol, progesterone, and free thyroxin.ConclusionsEndometriosis is highly prevalent in the Brazilian population and, dysmenorrhea is the only clinical symptom associated with the diagnosis of endometriosis. Infertile patients with endometriosis have higher levels of FSH, PRL and TSH than infertile women without endometriosis.     

35岁以上不孕妇女IVF-ET的临床分析

目的:分析35岁以上不孕妇女接受IVF-ET治疗的结局,以更好的指导临床。方法:回顾性分析2004年6月~2006年12月在我院接受IVF-ET助孕治疗的98例35岁以上妇女的临床资料。结果:根据年龄分为<40岁组和≥40岁组,两组患者在获卵数,受精率,种植率和生化妊娠率方面差异有统计学意义(P<0.05);根据基础FSH值分为≤12mIU/mL组,12~20mIU/mL组和20.1~32mIU/mL组,3组在周期取消率、Gn用量和获卵数方面差异有统计学意义(P<0.05)。结论:基础FSH与年龄相比,年龄更能预测IVF的成功率。没有理由把基础FSH值升高的高龄妇女排除在IVF治疗之外,通过IVF治疗她们仍然有受孕的可能。     

宫腹腔镜治疗前后女性不孕患者生殖激素水平检测研究

目的:探讨宫腹腔镜治疗前后女性不孕不育患者生殖激素水平变化规律。方法:选取2007年1月～2009年1月于该院进行治疗的88例女性不孕不育患者为研究对象,将其随机分为观察组(宫腹腔镜组)44例和对照组(宫腔镜组)44例,将两组患者的治疗总有效率及治疗前后的血清PRL、E2、LH、T、FSH、P水平进行检测及比较。结果:A组的治疗总有效率明显高于B组,血清PRL、LH、T、FSH水平低于B组,E2、P水平高于对照组,且原发性不孕与继发性不孕患者均优于B组,P值均<0.05,均有统计学差异。结论:宫腹腔镜治疗女性不孕不育患者效果好,对生殖激素影响大,优势明显。     

Ovarian function and cigarette smoking

Whitcomb BW, Bodach SD, Mumford SL, Perkins NJ, Trevisan M, Wactawski‐Wende J, Liu A, Schisterman F. Ovarian function and cigarette smoking. Paediatric and Perinatal Epidemiology 2010. Cigarette smoking has been implicated in reproductive outcomes including delayed conception, but mechanisms underlying these associations remain unclear. One potential mechanism is the effect of cigarette smoking on reproductive hormones; however, studies evaluating associations between smoking and hormone levels are complicated by variability of hormones and timing of specimen collection. We evaluated smoking among women participating in the BioCycle Study, a longitudinal study of menstrual cycle function in healthy, premenopausal, regularly menstruating women (n = 259). Fertility monitors were used to help guide timing of specimen collection. Serum levels of oestradiol, progesterone, follicle‐stimulating hormone (FSH), luteinising hormone (LH) and total sex‐hormone binding globulin (SHBG) across phases of the menstrual cycle were compared between smokers and non‐smokers. We observed statistically significant phase‐specific differences in hormone levels between smokers and non‐smokers. Compared with non‐smokers, smokers had higher levels of FSH in the early follicular phase and higher LH at menses after adjusting for potential confounding factors of age, race, body mass index, parity, vigorous exercise, and alcohol and caffeine intake through inverse probability of treatment weights. No statistically significant differences were observed for oestradiol, progesterone or SHBG. These phase‐specific differences in levels of LH and FSH in healthy, regularly menstruating women who are current smokers compared with non‐smokers reflect one mechanism by which smoking may influence fertility and reproductive health.     

A randomized study of the effect of mifepristone alone or in conjunction with ethinyl estradiol on ovarian function in women using the etonogestrel-releasing subdermal implant, Implanon®

BackgroundMifepristone alone or in combination with ethinyl estradiol (EE) can effectively stop an episode of uterine bleeding in women using the etonogestrel-releasing contraceptive implant, Implanon® but could impair contraceptive efficacy.AimTo examine the effects of administration of mifepristone alone or with EE on ovarian function and cervical mucus consistency in women using Implanon.Study DesignWomen using Implanon were randomized to mifepristone 25 mg twice daily on day 1 plus placebo 1 daily for 4 days or plus EE 20 mcg daily for days 2–5. Measurements of serum estradiol (E₂), progesterone (P₄), luteinizing hormone (LH), follicle-stimulating hormone (FSH), cervical mucus examination and maximal follicle size (by vaginal ultrasound) were carried out at various times.ResultsFollowing mifepristone intake, there was a dramatic increase in E₂ levels ranging from 543 to 1183 pmol/L (p=.000), which was not correlated with maximal follicle size or preceded by LH or FSH increase. The increase in E₂ triggered an LH increase resulting in development of a luteinized follicle in four women with no evidence of ovulation. One of these women had estradiol and progesterone levels suggestive of ovulation, but no corpus luteum was seen. Almost all women had very low mucus scores, which did not correlate with E₂ levels.DiscussionDespite a transient increase in E₂ levels after mifepristone, there was no evidence of subsequent ovulation irrespective of whether they also received EE. The mechanism by which mifepristone in the presence of etonogestrel results in a rapid increase in E₂ levels remains unclear and could not be related to any significant changes in FSH, LH, ovarian follicle dynamics or subsequent possible ovulation.ConclusionPregnancy is very unlikely to occur if mifepristone and EE are given during use of Implanon to stop an episode of bleeding.     

A randomized study of the effect of mifepristone alone or in conjunction with ethinyl estradiol on ovarian function in women using the etonogestrel-releasing subdermal implant,Implanon®

BackgroundMifepristone alone or in combination with ethinyl estradiol (EE) can effectively stop an episode of uterine bleeding in women using the etonogestrel-releasing contraceptive implant, Implanon® but could impair contraceptive efficacy.AimTo examine the effects of administration of mifepristone alone or with EE on ovarian function and cervical mucus consistency in women using Implanon.Study DesignWomen using Implanon were randomized to mifepristone 25 mg twice daily on day 1 plus placebo 1 daily for 4 days or plus EE 20 mcg daily for days 2–5. Measurements of serum estradiol (E₂), progesterone (P₄), luteinizing hormone (LH), follicle-stimulating hormone (FSH), cervical mucus examination and maximal follicle size (by vaginal ultrasound) were carried out at various times.ResultsFollowing mifepristone intake, there was a dramatic increase in E₂ levels ranging from 543 to 1183 pmol/L (p=.000), which was not correlated with maximal follicle size or preceded by LH or FSH increase. The increase in E₂ triggered an LH increase resulting in development of a luteinized follicle in four women with no evidence of ovulation. One of these women had estradiol and progesterone levels suggestive of ovulation, but no corpus luteum was seen. Almost all women had very low mucus scores, which did not correlate with E₂ levels.DiscussionDespite a transient increase in E₂ levels after mifepristone, there was no evidence of subsequent ovulation irrespective of whether they also received EE. The mechanism by which mifepristone in the presence of etonogestrel results in a rapid increase in E₂ levels remains unclear and could not be related to any significant changes in FSH, LH, ovarian follicle dynamics or subsequent possible ovulation.ConclusionPregnancy is very unlikely to occur if mifepristone and EE are given during use of Implanon to stop an episode of bleeding.     

吸烟及烟碱型乙酰胆碱受体亚单位α5基因rs17486278位点多态性对肺癌的交互作用

目的 探讨在中国男性人群中吸烟、烟碱型乙酰胆碱受体亚单位α5(CHRNA5)基因多态性与肺癌的关联及其交互作用.方法 采用成组病例对照研究设计,收集男性原发性肺癌病例204例,正常健康对照者821例.采用结构式问卷调查社会人口学特征、吸烟行为及健康状况等,采集静脉血检测CHRNA5 SNP位点rs17486278的多态性.应用多因素logistic回归模型分析吸烟、CHRNA5的基因多态性与肺癌的关系及其交互作用.结果 控制潜在混杂因素后,每天吸烟量＞15支者发生肺癌的风险高于不吸烟者(OR=3.49,95％CI:2.29～ 5.32),未发现CHRNA5上的rs17486278多态性与肺癌有统计学关联.进一步交互作用分析显示,每天吸烟量1～15支并携带rs17486278纯合变异基因型(CC)者对肺癌的发生存在正交互作用(OR=16.13,95％CI:1.27～205.33).根据rs17486278多态性和吸烟行为进行分层分析,与不吸烟并携带rs17486278野生基因型(AA)者相比,每天吸烟量1～15支并携带纯合变异基因型(CC)者、每天吸烟量＞15支并携带野生基因型(AA)者和每天吸烟量＞15支并携带杂合变异基因型(AC)者发生肺癌风险增高,OR直分别为8.14(95％CI:1.17 ～ 56.56)、3.84(95％CI:1.30～ 11.40)和5.32(95％CI:1.78 ～ 15.93).结论 在中国男性人群中CHRNA5的基因多态性与吸烟行为对肺癌的发生存在正交互作用.     

不孕症实施腹腔镜下输卵管、卵巢电凝电切手术对卵巢功能的近期影响

目的:研究不孕症腹腔镜下实施输卵管、卵巢电凝、电切手术对卵巢功能的近期影响。方法:不孕症行腹腔镜下输卵管、卵巢电凝、电切手术53例,分别于术前(月经第2～3天),术后第1天、第5天、1个月(月经第2～3天)、3个月(月经第2～3天)抽血测定卵泡刺激素(FSH)、黄体生成素(LH)、催乳素(PRL)、雌二醇(E2)、孕酮(P)、睾酮(T)水平,术后随访6个月了解其排卵及妊娠情况。结果:53例不孕症患者术后第1天LH、E2、P、T水平增高(P<0.05);术后1个月除E2增高、LH下降(P<0.05);3个月PRL下降(P<0.05)。术后半年排卵率为92.45%,妊娠率为39.62%。结论:不孕症行腹腔镜下输卵管、卵巢电凝、电切手术不加重卵巢近期功能的损害。不孕症输卵管、卵巢手术后可提高排卵率及妊娠率。     

绝经后老年女性脆性骨折与心血管疾病的相关性研究:成都社区7年随访

目的骨质疏松相关脆性骨折与心脑血管疾病(CVD)是影响绝经后老年女性生活质量的重要疾病,二者之间的关联逐渐引起关注。本研究从一般危险因素、CVD患病情况及雌激素受体ESR1PvuII(rs2234693)基因多态性的角度,探讨影响社区绝经后老年女性脆性骨折的危险因素,以及CVD与脆性骨折之间的可能联系和机制。方法在2004～2011年期间,对成都两个社区的174名绝经后老年女性(入组平均年龄66.74±4.85岁)进行随访观察(平均7年)。入组时记录研究对象是否有既往脆性骨折史、慢性疾病史,是否长期吸烟、饮酒,及运动情况;测量身高、体重、腰围及血压;检测空腹血糖(FPG)、血脂、胰岛素水平;检测血清白介素-6(IL-6)、肿瘤坏死因子-α(TNF-α)、以及ESR1PvuII(rs2234693)基因多态性。随访该人群7年中是否发生脆性骨折及部位。利用统计学软件SPSS17.0对结果进行分析。结果 7年间,有25人(15.9%)发生脆性骨折。既往脆性骨折史阳性者再发骨折风险比阴性者显著增加(OR值3.965;95%CI1.555～10.111;P=0.004);长期吸烟及饮酒者比不吸烟及饮酒者脆性骨折风险显著增加(OR值6.095;95%CI1.415～26.264;P=0.015);每天坚持运动者比不运动者脆性骨折风险显著降低(OR值0.379;95%CI0.144～0.997;P=0.049)。CVD患者的脆性骨折发生率略高于无CVD组(19.1%VS11.8%),二组间差异无统计学意义(P=0.774);ESR1PvuII基因多态性分析显示:CC基因携带组脆性骨折发生率(22.7%)较TC组(16.7%)、TT组(12.7%)略高,组间相比未达到统计学显著差异(P=0.266)。结论既往脆性骨折史、吸烟及饮酒是导致绝经后女性脆性骨折的重要危险因素;运动是防止脆性骨折的保护性因素;CVD有增加脆性骨折风险的趋势;ESR1PvuII基因多态性的CC基因型可能是脆性骨折发生的危险因素。