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1.

Background

Transforming growth factor-β1 (TGF-β1) is a multifunctional cytokine involved in inflammation and pathogenesis of atherosclerosis. There is scant information on the relation between variations within the TGF-β1 gene polymorphisms and risks of ischemic cerebrovascular diseases. Therefore, this case-controlled study was carried out to investigate the possible association of the TGF-β1 gene C-509T and T869C polymorphisms, and their combined genotypes with the risk of atherosclerotic cerebral infarction (CI) in the Chinese population.

Results

We recruited 164 CI patients and 167 healthy control subjects who were frequency-matched for age and gender. The frequencies of the -509TT genotype and T allele gene were significantly higher in the CI group (P = 0.007, P = 0.006). The frequencies of +869CC genotype and C allele were higher in the CI group (P = 0.002, P = 0.004). In the CI group, the individuals with -509TT genotype had a significantly higher level of plasma triglyceride (TG) (P = 0.017). +869CC genotype correlated significantly with higher level of plasma low density lipoprotein cholesterol (LDL-c) in the CI group (P = 0.015). With haplotype analysis, the frequency of the -509T/+869C combined genotype was significantly higher in the CI group than in controls (P < 0.001).

Conclusions

Our study suggests that C-509T and T869C gene polymorphisms in TGF-β1 may be a critical risk factor of genetic susceptibility to CI in the Chinese population.  相似文献   

2.

Objectives

Endometriosis is a chronic disease caused by the presence of endometrial tissue in ectopic locations outside the uterus. Chronic exposure to the environmental pollutant dioxin has been correlated with an increased incidence in the development of endometriosis in non-human primates. We have therefore examined whether there is an association between the polymorphisms of ten dioxin detoxification genes and endometriosis in Japanese women.

Methods

This was a pilot study in which 100 patients with endometriosis and 143 controls were enrolled. The prevalence of five microsatellite and 28 single nucleotide polymorphism markers within ten dioxin detoxification genes (AhR, AHRR, ARNT, CYP1A1, CYP2E1, EPHX1, GSTM1, GSTP1, GSTT1, NAT2) was examined.

Results

Taking into account that this analysis was a preliminary study due to its small sample size and genetic power, the results did not show any statistically significant difference between the cases and controls for any of the allele and genotype frequency distributions examined. In addition, no significant associations between the allele/genotype of all polymorphisms and the stage (I–II or III–IV) of endometriosis were observed.

Conclusion

Based on the findings of this pilot study, we conclude the polymorphisms of the ten dioxin detoxification genes analyzed did not contribute to the etiology of endometriosis among our patients.

Electronic supplementary material

The online version of this article (doi:10.1007/s12199-012-0281-y) contains supplementary material, which is available to authorized users.  相似文献   

3.

Objective

Although colorectal cancer (CRC) is one of the most frequent malignancies in Japan, the associated genetic factors remain to be elucidated. Functional loss of the transporter associated with antigen processing (TAP) 1 gene induces carcinogenesis. We investigated whether single nucleotide polymorphisms (SNPs) in the TAP1 gene (rs735883) are associated with susceptibility to CRC in a Japanese population.

Methods

The study participants were 143 cases and 243 clinical controls. After extracting DNA from their peripheral blood cells, genotyping was conducted by the polymerase chain reaction–restriction fragment length polymorphism method.

Results

Participants with a mutated allele had an increased risk for CRC. The adjusted odds ratios for the C/T, T/T, and the mutation type (C/T + T/T) compared to that of wild type (C/C) were 2.27 [95 % confidence interval (CI), 1.43–3.67], 1.95 (95 % CI, 0.88–4.30), and 2.22 (95 % CI, 1.42–3.55), respectively. Furthermore, a significant trend in the rate of cases was observed with an increasing number of mutated alleles (P for trend = 0.0068).

Conclusions

The genotype of the TAP1 gene is associated with susceptibility to CRC.  相似文献   

4.

Objectives

Context: Osteoporosis is a systemic disease with a strong genetic component. Calcitonin receptors (CTR) are involved in maintaining calcium homeostasis. There is no consensus whether CTR gene polymorphism plays a role in affecting pathogenesis of osteoporosis.

Objective

The objective of this study was to investigate genetic susceptibility of calcitonin receptor gene polymorphism (genotypes and allele frequencies) to primary osteoporosis between Han and Uygur patients and healthy controls in the Chinese Xinjiang region.

Design

This was a cross-sectional study conducted in an academic hospital.

Subjects

Between 2010 and 2012 a total of 404 female patients with primary osteoporosis (200 Han and 204 Uygur) and 316 healthy control subjects (160 Han and 156 Uygur) were recruited to determine the distribution of C/T single nucleotide polymorphism of the CTR gene. PCR-restriction fragment length polymorphism was used at the 1377-bp site.

Results

The frequency of polymorphic C/T alleles of the calcitonin receptor gene in each group fit the Hardy-Weinberg equilibrium model. There was no statistically significant difference in genotypes (P = 0.922) or allele frequency (P = 0.654) between the Xinjiang Han postmenopausal osteoporosis patients and the controls. Similarly, there was no difference in genotypes (P = 0.897) or allele frequency (P = 0.825) between Xinjiang Uygur postmenopausal osteoporosis patients and the controls. Moreover, there was no significant difference (P = 0.86) between the combination of both ethnic groups and controls. In contrast, compared to these two ethnic groups, Han CC type accounted for 67.8%, CT 30.0%, and TT 2.2%, whereas Uighur CC type accounted for 55.6%, CT 33.3%, and TT 11.2%, which is statistically significant between Han and Uygur CTR genotypes (P = 0.006). Allele frequency of C accounted for 82.8% and T for 17.2% in Han, whereas C accounted for 72.2% and T for 27.8% in Uygur (P = 0.001).

Conclusion

There was no statistically significant difference in CTR gene nucleotide sequence polymorphisms at 1377-bp between Chinese Xinjiang Han and Uygur patients with primary osteoporosis, suggesting that this CTR gene polymorphism may not affect incidence of osteoporosis. However, there was a significant difference in CTR gene nucleotide sequence polymorphism at the 1377-bp site between Chinese Xinjiang Han and Uygur, but the importance of this difference needs further study.  相似文献   

5.

Purpose

Welders have been chronically exposed to hexavalent chromium with potential consequences on chromosomal integrity. Our study is focused on the extent of any such chromosomal aberrations with respect to chromium levels in the blood of welders as well as on the tentative modulating role of polymorphisms in DNA repair genes XPD Lys751Gln, XPG Asn114His, XPC Lys939Gln, hOGG1 Ser326Cys and XRCC1 Arg399Gln on chromosomal damage.

Methods

The study was conducted on 144 individuals consisting of 73 welders exposed to chromium for 10.2?±?1.67?years and 71 control individuals without known exposures. Chromosomal aberrations, their chromatid-type and chromosome-type aberrations were detected by conventional cytogenetic analysis. XPD, XPG, XPC, hOGG1 and XRCC1 gene polymorphisms were assayed for by Taqman SNP genotyping assay (“Assay-by-Demand”) using Real-Time allelic discrimination on AB 7500 equipment. Chromium concentration in the blood was determined by atomic absorption spectrophotometry.

Results

The level of chromium in the blood of welders ranged between 0.032 and 0.182?μmol?l?1 and was significantly higher than that in controls (0.07?±?0.04?μmol?l?1 vs. 0.03?±?0.007?μmol?l?1). Parameters of chromosomal damage were similar in both the exposed and the control individuals (1.89% vs. 1.70% for total chromosomal aberrations, 0.97% vs. 0.88% for chromosome-type and 0.92% vs. 0.80% for chromatid-type, respectively). Chromatid-type of aberrations positively correlated with the level of chromium in the blood (r?=?0.28; P?=?0.02). Significantly higher total chromosomal aberrations were detected in individuals with homozygous variant polymorphism in XRCC1 Arg399Gln gene as compared to those with heterozygous and homozygous wild-type genotypes (2.20, 1.89 and 1.48%, respectively; P?=?0.01). A similar tendency was found for chromatid-type aberrations (1.30% for homozygous variant genotype bearers, 0.94% for those with heterozygous genotype and 0.75% for carriers of homozygous wild-type genotype, respectively; P?=?0.04).

Conclusions

Although no apparent increase in chromosomal damage was recorded in chromium-exposed welders in comparison with controls, genetic make-up in DNA repair genes may increase susceptibility toward adverse effect of chromium.  相似文献   

6.

Background

The human CYP3A gene cluster codes for cytochrome P450 (CYP) subfamily enzymes that catalyze the metabolism of various exogenous and endogenous chemicals and is an obvious candidate for evolutionary and environmental genomic study. Functional variants in the CYP3A locus may have undergone a selective sweep in response to various environmental conditions.

Objective

The goal of this study was to profile the allelic structure across the human CYP3A locus and investigate natural selection on that locus.

Methods

From the CYP3A locus spanning 231 kb, we resequenced 54 genomic DNA fragments (a total of 43,675 bases) spanning four genes (CYP3A4, CYP3A5, CYP3A7, and CYP3A43) and two pseudogenes (CYP3AP1 and CYP3AP2), and randomly selected intergenic regions at the CYP3A locus in Africans (24 individuals), Caucasians (24 individuals), and Chinese (29 individuals). We comprehensively investigated the nucleotide diversity and haplotype structure and examined the possible role of natural selection in shaping the sequence variation throughout the gene cluster.

Results

Neutrality tests with Tajima’s D, Fu and Li’s D* and F*, and Fay and Wu’s H indicated possible roles of positive selection on the entire CYP3A locus in non-Africans. Sliding-window analyses of nucleotide diversity and frequency spectrum, as well as haplotype diversity and phylogenetically inferred haplotype structure, revealed that CYP3A4 and CYP3A7 had recently undergone or were undergoing a selective sweep in all three populations, whereas CYP3A43 and CYP3A5 were undergoing a selective sweep in non-Africans and Caucasians, respectively.

Conclusion

The refined allelic architecture and selection spectrum for the human CYP3A locus highlight that evolutionary dynamics of molecular adaptation may underlie the phenotypic variation of the xenobiotic disposition system and varied predisposition to complex disorders in which xenobiotics play a role.  相似文献   

7.
8.

Purpose

The effect of polyphenol-rich cloudy apple juice (CloA) consumption on plasma parameters related to the obesity phenotype and potential effects of interactions between CloA and allelic variants in obesity candidate genes were assessed in obese men.

Methods

In this controlled, randomized, and parallel study, n?=?68, non-smoking, non-diabetic men with a BMI ≥27?kg/m2 received 750?mL/day CloA (802.5?mg polyphenols) or 750?mL/day control beverage (CB, isocaloric equivalent to CloA) for 4?weeks. Further, study participants were genotyped for single-nucleotide polymorphisms in PPARγ (rs1801282), UCP3 (rs1800849), IL-6 (rs1800795), FABP2 (rs1799883), INSIG2 (rs7566605), and PGC1 (rs8192678) genes. At the beginning and at the end of intervention plasma lipids, distinct adipokines and cytokines as well as anthropometric parameters were determined.

Results

CloA compared to CB had no significant effect on plasma lipids, plasma adipokine and cytokine levels, BMI, and waist circumference. However, CloA consumption significantly reduced percent body fat compared to CB (? % body fat: CloA: ?1.0?±?1.3 vs. CB: ?0.2?±?0.9, p?Conclusion The observed diet–gene interaction might be a first indication for the impact of individual genetic background on CloA-mediated bioactivity on obesity-associated comorbidities.  相似文献   

9.

Objectives

Numerous studies indicate that certain genetic polymorphisms modify lead toxicokinetics. Metallothioneins are protective against the toxicity of many metals, including lead. The aim of this study was to determine whether the maternal metallothionein 2A (MT2A) -5 A/G single-nucleotide polymorphism is related to the lead levels in maternal blood, placental tissue and cord blood in 91 pregnant women and their newborns.

Methods

Venous blood from the mother was collected to investigate lead levels and MT2A polymorphism. Cord blood and placenta were collected for lead levels. Analyses were made using an Atomic Absorption Graphite Furnace Spectrophotometer. Standard PCR–RFLP technique was used to determine MT2A polymorphism.

Results

Blood lead levels of heterozygote genotype (AG) mothers were statistically higher than those of homozygote genotype (AA) (P?P?Conclusion This study suggests that pregnant women with AG genotype for MT2A polymorphism might have high blood lead levels and their newborns may be at risk of low-level cord blood lead variation.  相似文献   

10.

Purpose

To evaluate the changes in quality of life (QOL) over a 1-year follow-up period in patients submitted to laparoscopic colorectal resection for the treatment of deep endometriosis.

Methods

A prospective observational cohort study (Canadian Task Force Design Classification II) involving 40 women with intestinal deep endometriosis was conducted between June 2007 and September 2008 at the Department of Obstetrics and Gynecology, Santa Casa Medical School, Sao Paulo, Brazil. Prior to the surgical procedure, all patients received magnetic resonance studies of the pelvis and rectal echoendoscopy, which suggested intestinal involvement of the disease in all cases. The patients received laparoscopic colorectal resections and treatment for other endometriotic lesions. The subjects completed the QOL SF-36 at 3 time points (T0 pre-operatively; T1 6 months post-operatively; and T2 1 year post-operatively).

Results

The physical functioning, role physical, social functioning and role emotional subscales evidenced the most substantial median increases for T0, T1 and T2. The pain, general health, vitality and mental health domains showed slight changes and increases in medians but did not increase to the same extent as the previous group. Significant improvements were observed in all domains of the SF-36 throughout the study period (p < 0.05). Physical health-related QOL domains showed greater improvement than mental health domains. Analyses of age, parity and body mass index as potential factors influencing the impact of surgery on QOL revealed no differences. Therefore, these factors were not used as prognostic indicators for the surgical procedure or for patient follow-up. In addition, we noted that the patients with poorest results on the initial QOL questionnaire showed the greatest improvements at the end point.

Conclusion

The study results showed that laparoscopic colorectal segment resection for endometriosis had a positive impact on QOL in this patient group. The positive effects persisted 1 year after surgery.  相似文献   

11.

Background

Because adverse drug events (ADEs) have a high socio-economic impact there is an urgent need for effective prevention. In addition to process-related avoidable errors personalised approaches for the prevention of ADEs should also focus on genetic polymorphisms as potential causative agents.

Aim

Using five case reports as examples therapeutic modalities are described to illustrate the clinical impact of prospective testing aimed at estimating the individual risk of susceptible subjects.

Material and methods

The role of the HLA system, the cytochrome P450 family, other metabolic enzymes and transport proteins are described to illustrate the broad range of genetic susceptibility. It is shown, why, when and for whom pretherapeutic tests on genetic polymorphisms are recommended to reduce the risk of ADEs.

Results

The determination of genetic susceptibility is already implemented in clinical practice prior to (1) carbamazepine therapy in south-east Asians and (2) treatment with abacavir independent of ethnicity. Before prescribing carbamazepine or abacavir, it is recommended that therapeutic decisions be based on these test results.

Conclusion

The broad application of personalised medicine used as an effective tool for minimizing ADE risks is limited by the evidence-based benefit for the patient on the one hand and the costs of the test on the other hand.  相似文献   

12.

Purpose

The potential association between endometriosis and coffee/caffeine consumption has been analysed in several epidemiological studies. In order to establish whether caffeine influences the risk of endometriosis, we provide to summarize the evidence from published studies on this issue.

Methods

We performed a meta-analysis of epidemiological studies published up to January 2013. We computed summary relative risks (RR) of endometriosis for any, high and low versus no coffee/caffeine consumption.

Results

We identified a total eight studies, six case–control and two cohort studies, including a total of 1,407 women with endometriosis. The summary RR for any versus non-consumption were 1.26 [95 % confidence interval (CI) 0.95–1.66] for caffeine and 1.13 (95 % CI 0.46–2.76) for coffee consumption; the overall estimate was 1.18 (95 % CI 0.92–1.49). The summary RR were 1.09 (95 % CI 0.84–1.42) and 1.09 (95 % CI 0.89–1.33) for high and low caffeine consumption as compared to no consumption, respectively.

Conclusion

The present meta-analysis provided no evidence for an association between coffee/caffeine consumption and the risk of endometriosis. Coffee/caffeine consumption, as currently used in diet, does not carry a health risk.  相似文献   

13.

Purpose

Gestational diabetes mellitus (GDM) represents the most frequent metabolic disorder in pregnancy. Since dietary intake plays an important role in obesity and type 2 diabetes development, it is likely to be for the susceptibility to GDM too. Food preferences, driving partly the diet composition, are changing during pregnancy. Taste and genetic variability in taste receptors is an important factor in determining food preferences. Aims of our study were (1) to characterize dietary habits of pregnant women and to find possible differences in food preferences between healthy pregnant women and those with GDM and (2) to ascertain possible association of several single nucleotide polymorphisms (SNPs) in taste receptor (TR) genes with GDM.

Methods

A total of 363 pregnant women (293 with GDM and 70 with physiologic pregnancy) were included in the study. Dietary pattern spanning the period of approx. 6 months preceding the time of GDM screening was assessed using a semi-quantitative food frequency questionnaire. A total of five SNPs in TR genes were selected for genotyping based on their functionality or previous associations.

Results

Women with GDM exhibited significantly more frequent meat consumption (esp. poultry, pork and smoked meat), dairy products and sweet beverages consumption. The legumes consumption was found to be inversely correlated with fasting glycaemia (P = 0.007, Spearman). CC genotype in TAS2R9 gene (SNP rs3741845) was significantly associated with GDM (P = 0.0087, Chi-square test).

Conclusions

Our study showed differences in dietary intake of selected food items between healthy pregnant women and those with GDM and genetic association of bitter taste receptor allele with GDM.
  相似文献   

14.

Background

Arsenic (As) occurs as monomethylarsonic acid (MMA) and dimethylarsinic acid (DMA) in humans, and the methylation pattern demonstrates large interindividual differences. The fraction of urinary MMA is a marker for susceptibility to As-related diseases.

Objectives

We evaluated the impact of polymorphisms in five methyltransferase genes on As metabolism in two populations, one in South America and one in Southeast Asia. The methyltransferase genes were arsenic(+III oxidation state) methyltransferase (AS3MT), DNA-methyltransferase 1a and 3b (DNMT1a and DNMT3b, respectively), phosphatidylethanolamine N-methyltransferase (PEMT), and betaine-homocysteine methyltransferase (BHMT). AS3MT expression was analyzed in peripheral blood.

Methods

Subjects were women exposed to As in drinking water in the Argentinean Andes [n = 172; median total urinary As (U-As), 200 μg/L] and in rural Bangladesh (n = 361; U-As, 100 μg/L; all in early pregnancy). Urinary As metabolites were measured by high-pressure liquid chromatography/inductively coupled plasma mass spectrometry. Polymorphisms (n = 22) were genotyped with Sequenom, and AS3MT expression was measured by quantitative real-time polymerase chain reaction using TaqMan expression assays.

Results

Six AS3MT polymorphisms were significantly associated with As metabolite patterns in both populations (p ≤ 0.01). The most frequent AS3MT haplotype in Bangladesh was associated with a higher percentage of MMA (%MMA), and the most frequent haplotype in Argentina was associated with a lower %MMA and a higher percentage of DMA. Four polymorphisms in the DNMT genes were associated with metabolite patterns in Bangladesh. Noncoding AS3MT polymorphisms affected gene expression of AS3MT in peripheral blood, demonstrating that one functional impact of AS3MT polymorphisms may be altered levels of gene expression.

Conclusions

Polymorphisms in AS3MT significantly predicted As metabolism across these two very different populations, suggesting that AS3MT may have an impact on As metabolite patterns in populations worldwide.  相似文献   

15.

Objectives

Endometriosis presents with significant pain as the most common symptom. Generic health measures can allow comparisons across diseases or populations. However, the Medical Outcomes Study Short Form 36 (SF-36) has not been validated for this disease. The goal of this study was to validate the SF-36 (version 2) for endometriosis.

Methods

Using data from two clinical trials (N = 252 and 198) of treatment for endometriosis, a full complement of psychometric analyses was performed. Additional instruments included a pain visual analog scale (VAS); a physician-completed questionnaire based on patient interview (modified Biberoglu and Behrman—B&B); clinical global impression of change (CGI-C); and patient satisfaction with treatment.

Results

Bodily pain (BP) and the Physical Component Summary Score (PCS) were correlated with the pain VAS at baseline and over time and the B&B at baseline and end of study. In addition, those who had the greatest change in BP and PCS also reported the greatest change on CGI-C and patient satisfaction with treatment. Other subscales showed smaller, but significant, correlations with change in the pain VAS, CGI-C, and patient satisfaction with treatment.

Conclusions

The SF-36—particularly BP and the PCS—appears to be a valid and responsive measure for endometriosis and its treatment.  相似文献   

16.

Objective

To explore the association of the methylation status of MGMT and hMLH1 with chromosome damage induced by vinyl chloride monomer (VCM).

Materials and Methods

Methylation of MGMT and hMLH1 was measured in 101 VCM-exposed workers by methylation-specific PCR. Chromosome damage in peripheral blood lymphocytes was measured by the cytokinesis-block micronucleus assay. The subjects were divided into chromosome damaged and non-damaged groups based on the normal reference value of micronuclei frequencies determined for two control groups.

Results

MGMT promoter methylation was detectable in 5 out of 49 chromosome damaged subjects, but not in the chromosome non-damaged subjects; there was a significant difference in MGMT methylation between the two groups (p < 0.05).

Conclusions

We detected aberrant promoter methylation of MGMT in a small number of chromosome damaged VCM-exposed workers, but not in the chromosome non-damaged subjects. This preliminary observation warrants further investigation in a larger study.  相似文献   

17.

Objectives

Evaluation of the impact of a biscuit containing the probiotics Bifidobacterium longum Bar33 and Lactobacillus helveticus Barl3 on the intestinal microbiota in the elderly.

Design

Randomized double-blind placebo-controlled trial.

Participants

Thirty-two elderly volunteers living in Italy. The group was composed of 19 women and 13 men aged between 71 and 88 years (mean 76).

Intervention

Subjects were randomized in two groups consuming one dose of the probiotics-containing biscuit or placebo once a day for 30 days.

Measurements

For each subject the intestinal microbiota was characterized using the phylogenetic microarray platform HTF-Microbi. Array before and after intervention.

Results

Our data demonstrated that one-month consumption of a probiotics-containing biscuit was effective in redressing some of the age-related dysbioses of the intestinal microbiota. In particular, the probiotic treatment reverted the age-related increase of the opportunistic pathogens Clostridium cluster XI, Clostridium difficile, Clostridium perfringens, Enterococcus faecium and the enteropathogenic genus Campylobacter.

Conclusion

The present study opens the way to the development of elderly-tailored probiotic-based functional foods to counteract the age-related dysbioses of the intestinal microbiota.  相似文献   

18.

Background

Endometriosis is a common benign condition, which is characterized by the growth of endometrial-like tissue in ectopic sites outside the uterus. Laparoscopic excision of the disease is frequently carried out for the treatment of severe endometriosis. Pelvic adhesions often develop following surgery and they can compromise the success of treatment. Ovarian suspension (elevating both ovaries to the anterior abdominal wall using a Prolene suture) is a simple procedure which has been used to facilitate ovarian retraction during surgery for severe pelvic endometriosis. The study aims to assess the effect of temporary ovarian suspension following laparoscopic surgery for severe pelvic endometriosis on the prevalence of post-operative ovarian adhesions.

Methods

A prospective double blind randomised controlled trial for patients with severe pelvic endometriosis requiring extensive laparoscopic dissection with preservation of the uterus and ovaries. Severity of the disease and eligibility for inclusion will be confirmed at surgery. Patients unable to provide written consent, inability to tolerate a transvaginal ultrasound scan, unsuccessful surgeries or suffer complications leading to oophorectomies, bowel injuries or open surgery will be excluded. Both ovaries are routinely suspended to the anterior abdominal wall during surgery. At the end of the operation, each participant will be randomised to having only one ovary suspended post-operatively. A new transabdominal suture will be reinserted to act as a placebo. Both sutures will be cut 36 to 48 hours after surgery before the woman is discharged home. Three months after surgery, all randomised patients will have a transvaginal ultrasound scan to assess for ovarian mobility. Both the patients and the person performing the scan will be blinded to the randomisation process. The primary outcome is the prevalence of ovarian adhesions on ultrasound examination. Secondary outcomes are the presence, intensity and site of post-operative pain.

Discussion

This controlled trial will provide evidence as to whether temporary ovarian suspension should be included into the routine surgical treatment of women with severe pelvic endometriosis.

Trial registration

ISRCTN: ISRCTN24242218  相似文献   

19.

Background

The prevalence and risk factors for endometriosis may differ according to diagnosis methodologies, such as study populations and diagnostic accuracy. We examined risk profiles in imaging-diagnosed endometriosis with and without surgical confirmation in a large population of Japanese women, as well as the differences in risk profiles of endometriosis based on history of infertility.

Methods

Questionnaires that included items on sites of endometriosis determined by imaging techniques and surgical procedure were mailed to 1025 women who self-reported endometriosis in a baseline survey of the Japan Nurses’ Health Study (n = 15 019).

Results

Two hundred and ten women had surgically confirmed endometriosis (Group A), 120 had imaging-diagnosed endometriosis without a surgical procedure (Group B), and 264 had adenomyosis (Group C). A short menstrual cycle at 18–22 years of age and cigarette smoking at 30 years of age were associated with significantly increased risk of endometriosis (Group A plus Group B), while older age was associated with risk of adenomyosis (Group C). In women with a history of infertility, a short menstrual cycle was associated with a significantly increased risk of endometriosis in both Group A and Group B, but risk profiles of endometriosis were different between Group A and Group B in women without a history of infertility.

Conclusions

Women with surgically confirmed endometriosis and those with imaging-diagnosed endometriosis without surgery have basically common risk profiles, but these risk profiles are different from those with adenomyosis. The presence of a history of infertility should be taken into consideration for evaluation of risk profiles.Key words: endometriosis, risk factors, validation  相似文献   

20.

Aim

Typhoid fever is a serious health problem in tropical and developing countries. Although asymptomatic typhoid carriers show no clinical signs, they can spread infection to others. This study investigated the Toll like receptor 5 (TLR5) polymorphism and various clinical parameters in typhoid patients and asymptomatic typhoid carriers.

Subjects and methods

TLR5 gene was amplified in typhoid patients (n?=?15), asymptomatic carriers (n?=?10) and healthy control subjects (n?=?10) by polymerase chain reaction (PCR). A restriction fragment length polymorphism (RFLP) analysis of TLR5 gene was performed with restriction enzyme (Ddel). Clinical parameters such as total leukocyte, platelets, C-reactive protein (CRP), and adenosine de-aminase (ADA) were estimated. A correlative analysis of TLR5 gene polymorphism and clinical parameters was performed.

Results

Typhoid fever patients had significantly (p?<?0.05) reduced total leukocyte and platelet counts when compared to asymptomatic carriers and control subjects. Typhoid patients showed significantly (p?<?0.05) reduced ADA activity, while elevated CRP level when compared to carriers and controls. TLR5 gene was amplified in all individuals, but only two typhoid patients showed TLR5 gene polymorphism (TLR5 392STOP). There was no significant correlation between TLR5 gene polymorphism and clinical parameters studied in typhoid patients.

Conclusion

The TLR5 gene polymorphism seems to be not associated with susceptibility to typhoid fever.  相似文献   

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