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Background and aimsCoronary artery disease (CAD) is the principal cause of death in individuals with non-alcoholic fatty liver disease (NAFLD). The aim of this study was to use genetic epidemiology to study the association between de novo lipogenesis (DNL), one of the major pathways leading to NAFLD, and CAD risk.Methods and resultsDNL susceptibility genes were used as instruments and selected using three approaches: 1) genes that are associated with both high serum triglycerides and low sex hormone-binding globulin, both downstream consequences of DNL (unbiased approach), 2) genes that have a known role in DNL (biased approach), and 3) genes that have been associated with serum fatty acids, used as a proxy of DNL. Gene-CAD effect estimates were retrieved from the meta-analysis of CARDIoGRAM and the UK Biobank (~76014 cases and ~264785 controls). Effect estimates were clustered using a fixed-effects meta-analysis. Twenty-two DNL susceptibility genes were identified by the unbiased approach, nine genes by the biased approach and seven genes were associated with plasma fatty acids. Clustering of genes selected in the unbiased and biased approach showed a statistically significant association with CAD (OR:1.016, 95%CI:1.012; 1.020 and OR:1.013, 95%CI:1.007; 1.020, respectively), while clustering of fatty acid genes did not (OR:1.004, 95%CI:0.996–1.011). Subsequent exclusion of potential influential outliers did reveal a statistically significant association (OR:1.009, 95%CI:1.000; 1.018).ConclusionsDNL susceptibility genes are associated with an increased risk of CAD. These findings suggest that DNL may be involved in the pathogenesis of CAD and favor further development of strategies that target NAFLD through DNL.  相似文献   
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The anterior hypothalamus-preoptic area and ventromedial hypothalamus are sexually dimorphic in the reproductively active whiptail lizard Cnemidophorus inornatus. The anterior hypothalamus-preoptic area, which is involved in the control of male-typical copulatory behaviors, is larger in males, whereas the ventromedial hypothalamus, which is involved in the control of female-typical receptivity, is larger in females. In the parthenogenetic whiptail lizard C. uniparens, which is a direct descendant of C. inornatus and exhibits both male-like and female-like pseudosexual behaviors, both brain areas are comparable in size to those of female C. inornatus. This study was conducted to determine whether these brain areas change in size in either species or sex during a time of year when these animals are reproductively inactive, or after removal of the gonads. In male C. inornatus both brain areas changed during reproductive inactivity (either seasonally or surgically induced) and became equivalent to the size characteristic of reproductively active female C. inornatus. When corrected for brain size, the anterior hypothalamus-preoptic area was significantly smaller in intact hibernating and castrated males than in intact males from the summer breeding season. Conversely, the ventromedial hypothalamus was significantly larger in intact hibernating and castrated males than in intact males from the summer breeding season. The two brain areas were not significantly different among the groups of female C. inornatus or parthenogenetic C. uniparens. These results suggest that 1) the brain of whiptail lizards may differentiate seasonally and 2) the female state may be a neutral one to which the male brain reverts during reproductive inactivity.  相似文献   
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BACKGROUND: Neuroanatomic sexual dimorphisms have been correlated with behavioral differences between healthy men and women. We have reported higher orbitofrontal cortex to amygdala ratio (OAR) in women than men. Although gender differences in schizophrenia are evident clinically and correlate with neuroanatomic measures, their relationship to OAR has not been examined. METHODS: Magnetic resonance imaging was performed in 31 neuroleptic-na?ve schizophrenic patients (16 men) and 80 healthy volunteers (34 men), aged less than 50 years. An automated tissue segmentation procedure was combined with expert-guided parcellation of orbitofrontal and amygdala volumes. RESULTS: Men with schizophrenia had increased OAR relative to healthy men, whereas women had decreased OAR. Increased OAR in men with schizophrenia reflected abnormally low amygdala volumes, whereas decreased OAR in women reflected abnormally low orbitofrontal volumes. Less severe negative symptoms were associated with increased OAR in men but with decreased OAR in women. In men, increased amygdala volume was associated with greater symptom severity, whereas in women higher volumes of both amygdala and orbitofrontal regions were associated with lesser severity of negative symptoms. CONCLUSIONS: These opposite OAR abnormalities, whereby men show feminization and women masculinization, suggest gender-mediated effects of the underlying neuropathologic processes. The correlations with symptom severity suggest that neuroanatomic abnormalities in OAR reflect compensatory brain changes.  相似文献   
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Among British-qualified doctors of 1974 and 1977, about 80% held postgraduate qualifications of some kind. The commonest qualifications were DRCOG, MRCP and MRCOG. There were considerable differences between medical schools in the numbers of qualifiers taking various examinations. Apart from the MRC Psych, DRCOG and Family Planning Certificate, qualifications were more commonly held by men than women. Tables show the type of work being done 9-13 years after leaving medical school by holders of various postgraduate qualifications; e.g. 60% of MRCP holders were working in medicine or a medical specialty and 84% of FRCS holders in general surgery or a surgical specialty. Discussion deals with the plurality, specificity, variability, perceived necessity, sufficiency, international utility and career significance of British postgraduate qualifications.  相似文献   
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A previous study showed that adult female dancers have a high percentage of type I fibres in vastus lateralis. similar to that of endurance-trained female runners ar female cross-country skiers. It is not known if dancers already at an early age are characterized by a high percentage of type I fibres or develop a high percentage of type I fibres as a consequence of dance training. Furthermore. the muscle fibre composition of male dancers has not previously been studied. Therefore the aim of the study was to analyse skeletal muscle fibre characteristics in 10-year-old and 20-year-old dancers of both sexes. Age-matched boys and girls whose physical activity was average for their age groups served as controls. Muscle biopsies for histochemical analysis were obtained from vastus lateralis using the percutaneous needle technique. The major finding of the present study was that the vastus lateralis of young dancers of both sexes had a higher percentage of type I fibres than that of controls. Moreover. the higher type I percentage was seen not only in 20 year aids. but also in 10 year aids. who had begun their dance training at a professional level only a few weeks earlier. No significant difference in this respect was found between female and male dancers. In conclusion. the muscle fibre type composition in young dancers of both sexes differs from that of the average individual of the same age and is characterized by a high percentage of type I fibres.  相似文献   
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SRY基因诊断在临床中的应用   总被引:1,自引:0,他引:1  
应用聚合酶链式反应(PCR)扩增技术,对10例染色体核型为46,XY和1例为46,XX/46,XY的性反转、睾丸女性化、两性畸形及男性生殖器发育不良的患者进行了性别决定区(SRY)基因检测。结果表明9例46,XY和1例46,XX/46,XY患者的SRY基因存在,1例46,XY女性患者的SRY基因缺失。该结果表明能够用分子生物学技术对性反转、性发育异常的病因进行分析  相似文献   
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Sex-specific effects for body mass index (BMI) were explored in a newly established, population-based Norwegian twin panel. The sample includes 5,864 individuals, aged 18–25 years, who responded to a questionnaire containing items for zygosity classification, height, weight, health, health-related behaviors, well-being, and demographic information. Among the 2,570 intact pairs who returned the questionnaire there were 416 identical (MZ) male pairs, 387 fraternal (DZ) male pairs, 528 MZ female pairs, 443 DZ female pairs, and 796 unlike-sexed pairs. Alternate sets of models testing for either sex-specific genetic or environmental parameters were evaluated using structural equation analysis. Results from the most parsimonious model indicated that the genes contributing to variation in BMI are not identical for men and women; rather, some genetic effects were shared by the sexes and some were unique to each sex. Total variation in BMI could be explained by sex-specific additive genetic effects, as well as genetic and non-shared environmental effects common to men and women. Estimates of heritability were .708 for men and .789 for women, and the male-female genetic correlation was 0.622. The series of models specifying sex-specific shared environment also fit the data and suggests that shared environmental factors may be important for males but not for females. The findings raise questions concerning the relationship between sex-specific effects for BMI and sex differences in health outcomes. ©1995 Wiley-Liss, Inc.  相似文献   
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