首页 | 官方网站   微博 | 高级检索  
相似文献
 共查询到20条相似文献,搜索用时 15 毫秒
1.

Background

Attention deficit hyperactivity disorder (ADHD) is a complex neurobehavioral disorder. The dopamine transporter gene (DAT1/SLC6A3) has been considered a good candidate for ADHD. Most association studies with ADHD have investigated the 40-base-pair variable number of tandem repeat (VNTR) polymorphism in the 3'-untranslated region of DAT1. Only few studies have reported association between promoter polymorphisms of the gene and ADHD.

Methods

To investigate the association between the polymorphisms -67A/T (rs2975226) and -839C/T (rs2652511) in promoter region of DAT1 in ADHD, two samples of ADHD patients from the UK (n = 197) and Taiwan (n = 212) were genotyped, and analysed using within-family transmission disequilibrium test (TDT).

Results

A significant association was found between the T allele of promoter polymorphism -67A/T and ADHD in the Taiwanese population (P = 0.001). There was also evidence of preferential transmission of the T allele of -67A/T polymorphism in combined samples from the UK and Taiwan (P = 0.003). No association was detected between the -839C/T polymorphism and ADHD in either of the two populations.

Conclusion

The finding suggests that genetic variation in the promoter region of DAT1 may be a risk factor in the development of ADHD.  相似文献   

2.

Background

The alpha2-adrenergic receptor (α2-AR) mediates physiological responses to endogenous catecholamine, and genetic variants of α2-AR may predispose to clinical vascular diseases. We evaluated whether common genetic variants of each three subtype of alpha2-adrenergic receptor (ADRA2A, ADRA2B, and ADRA2C) were associated with ischemic stroke.

Methods

A total of 616 patients with ischemic stroke and 512 controls were genotyped for the ADRA2A 1780G>A, ADRA2B 301–303 I/D, and ADRA2C 322–325 I/D polymorphisms. Logistic regression analyses, adjusting for multiple comparisons, were used to determine the association between the minor allele of each of three ADRA2 genes and the risk of ischemic stroke and pathophysiological subtypes.

Results

The ADRA2B 301–303 D allele was more prevalent in the stroke group, compared to controls (DD vs. II, OR: 1.78, 95% CI: 1.18–2.69; recessive, OR: 1.55, 95% CI: 1.06–2.26). A subgroup analysis revealed that this association was found only in the small vessel diseases (SVD) type (DD vs. II, OR: 1.92, 95% CI: 1.11–3.33). The ADRA2A and ADRA2C polymorphisms did not contribute to an increased risk of ischemic stroke or any pathophysiological subtype.

Conclusions

The ADRA2B 301–303 D allele confers an increased risk of overall ischemic stroke and SVD subtype.  相似文献   

3.

Background

Attention deficit hyperactivity disorder (ADHD) is a common and highly heritable disorder of childhood characterized by inattention, hyperactivity and impulsivity. Molecular genetic and pharmacological studies suggest the involvement of the dopaminergic, serotonergic and noradrenergic neurotransmitter systems in the pathogenesis of ADHD. Monoamine oxidase A (MAO-A) encodes an enzyme that degrades biogenic amines, including neurotransmitters such as norepinephrine, dopamine and serotonin. In this study we examined a 30 bp promoter variable number tandem repeat (VNTR) and a functional G/T single nucleotide polymorphism (SNP) at position 941 in exon 8 (941G/T) of MAO-A for association with ADHD in a Taiwanese sample of 212 ADHD probands.

Methods

Within-family transmission disequilibrium test (TDT) was used to analyse association of MAO-A polymorphisms with ADHD in a Taiwanese population.

Results

A nominally significant association was found between the G-allele of 941G/T in MAO-A and ADHD (TDT:P = 0.034. OR = 1.57). Haplotype analysis identified increased transmission of a haplotype consisting of the 3-repeat allele of the promoter VNTR and the G-allele of the 941G/T SNP (P = 0.045) to ADHD cases which the strong association with the G-allele drove.

Conclusion

These findings suggest the importance of the 941G/T MAO-A polymorphism in the development of ADHD in the Taiwanese population. These results replicate previously published findings in a Caucasian sample.  相似文献   

4.

Objective

N-methyl-D-aspartate (NMDA) receptor has been indicated to be involved in the pathogenesis of Alzheimer’s disease (AD). The NMDA receptor subunit 2b (NR2B) has attracted more attention due to its characteristic distribution and selective reduction in AD brain. The present study aimed to explore the association between NMDA gene polymorphism and AD.

Methods

A total of 63 AD patients and 68 normal controls in Shanghai city were employed in this study. Genotype of C2664T variant (rs1806201) in the exon13 of GRIN2B gene was determined by gene sequencing.

Results

Among AD patients, 15 (23.6%) subjects were identified as C/C genotype, and 35 (55.6%) were identified as C/T genotype. The left 13 (20.6%) subjects were identified as T/T genotype. In normal controls, 15 (22.1%) subjects were identified as C/C genotype, 39 (57.4%) as C/T genotype and 14 (20.6%) as T/T genotype. The distribution frequency of neither GRIN2B C2664T genotype (P=0.895) nor allele (P=0.790) was significantly different between AD patients and normal controls, even when the subjects were stratified by gender and age of disease onset in AD patients.

Conclusion

The results suggest that there is no relation between GRIN2B C2664T polymorphism and AD in Chinese Han population of Shanghai City.
  相似文献   

5.
Several lines of studies have shown the existence of an important inhibitory mechanism for the control of water intake involving adrenergic α2A receptors (ADRA2A). A human study using patients with schizophrenia demonstrated an exacerbation of polydipsia by the administration of clonidine, an ADRA2A-agonist, and a relief of polydipsia by mianserin, an ADRA2A-antagonist, suggesting the involvement of the central adrenergic system in the drinking behavior of patients with schizophrenia. Based on these findings we examined a possible association between the C-1291G polymorphism in the promoter region of the ADRA2A gene and polydipsia in schizophrenia using a Japanese case-control sample. Our sample includes 348 patients with schizophrenia (DSM-IV) (84 with polydipsia and 264 without polydipsia). No significant association between the ADRA2A C-1291G polymorphism and polydipsia was found. Our result suggests that the ADRA2A C-1291G polymorphism may not confer susceptibility to polydipsia in schizophrenia in our sample. Further studies with larger samples are warranted.  相似文献   

6.

Background

Recent genetic association studies have investigated the possible genetic role of the dopaminergic system in migraine. Catechol-O-methyltransferase (COMT) is an enzyme that plays a crucial role in the metabolism of dopamine and its genetic polymorphism is associated with three- to fourfold variation of enzymatic activity.

Objectives

The objective of this study was to elucidate the role of the COMT polymorphism in the genetic susceptibility to migraine and its phenotypic expression in patients with migraine without aura (MWOA).

Methods

Ninety-seven patients with MWOA and 94 healthy volunteers were included in the study. After amplifying COMT genes by the polymerase chain reaction, we assessed their genotype frequencies and allele distributions by based on restriction fragment length polymorphisms. We classified all MWOA patients into two groups according to their COMT genotype: with the L allele (N = 43), and without this allele (N = 54).

Results

The genotype frequency and allele distribution of the COMT polymorphism did not differ between MWOA patients and the control group. During migraine attacks, MWOA patients with the L allele showed a higher pain intensity of headache (P = 0.001) and a higher incidence of the accompanying nausea/vomiting (94% vs 75%; P = 0.026) compared with MWOA patients without the L allele.

Conclusions

Although the COMT polymorphism does not appear to be involved in predisposition to the development of MWOA, this genetic factor could be involved in the phenotypic expression of MWOA.  相似文献   

7.

Background and purpose

Migraine is a genetically heterogeneous disorder that is frequently associated with a familial history, and mitochondrial dysfunction has been suggested to be associated with its pathogenesis. We screened and scanned mitochondrial gene polymorphisms to determine the significance of mitochondrial DNA mutations in Korean migraineurs.

Methods

One hundred and sixty-four migraineurs aged 33.9±11.7 years (mean±SD range 12 to 65 years) were studied. Clinical data of the familial history were obtained, and blood samples were collected for DNA purification. An A-to-G substitution at mitochondrial DNA (mtDNA) position 11,084 (A11084G) was determined by a polymerase chain reaction (PCR) with BsmI restriction. In addition, new single-nucleotide polymorphism (SNP) sites in the mitochondrial genome were scanned for using PCR and direct sequencing.

Results

Ninety-eight migraine patients (59.8%) had a maternal familial history. The A11084G polymorphism, which was previously reported in 25% of Japanese migraineurs, was not evident in our Korean migraine patients. However, scanning of new SNP sites in mtDNA revealed six candidate SNPs whose incidences were higher in migraine patients than in normal subjects.

Conclusions

Our study found no association between the A11084G polymorphism in mitochondrial DNA and migraine in Koreans. However, we found potential new mitochondrial SNP sites in Korean migraineurs, which warrant further investigation.  相似文献   

8.

Purpose

Individuals who exercise are at lower risk for breast cancer and have better post-diagnosis outcomes. The biological mechanisms behind this association are unclear, but DNA methylation has been suggested.

Methods

We developed a composite measure of DNA methylation across 45 CpG sites on genes selected a priori. We examined the association of this measure to self-reported physical activity and objectively measured cardiovascular fitness in a sample of healthy nonsmoking adults (n?=?64) in an exercise promotion intervention.

Results

Individuals who were more physically fit and who exercised more minutes per week had lower levels of DNA methylation. Those who increased their minutes of physical activity over 12 months experienced decreases in DNA methylation.

Conclusions

DNA methylation may be a mechanism linking exercise and cancer incidence and could serve as a biomarker for behavioral intervention trials. Studies with larger samples, objectively measured exercise, and more cancer-related markers are needed.  相似文献   

9.
There are limited studies evaluating the fibrinogen levels in patients with migraine. It remains unknown whether the levels of the haematological marker of thromboembolism, d-dimer, and the levels of galectin-3, which plays an important role in inflammation as a proinflammatory mediator, change during the attacks in patients with migraine. The present study aims to compare galectin-3, fibrinogen and d-dimer levels in patients with migraine during the attacks and interictal periods, and to compare galectin-3, fibrinogen and d-dimer levels between patients with migraine and healthy controls to investigate the role of these parameters in the pathogenesis of migraine. Fifty-nine patients with migraine and 30 age-gender matched healthy control subjects were enrolled in the study. Blood galectin-3, fibrinogen and d-dimer levels were measured in patients with migraine. Patients with migraine had higher levels of galectin-3, fibrinogen and d-dimer compared to the healthy controls (p < 0.05). No statistically significant difference was found between galectin-3 and fibrinogen levels during the attacks and interictal period in the migraine group (p > 0.05). Migraine patients had higher d-dimer levels during the attacks compared to the patients in the interictal period in the migraine group (p = 0.05). In conclusion, we found increased levels of fibrinogen, d-dimer and galectin-3 in patients with migraine compared to the healthy control group. Furthermore, we showed increased galectin-3 levels in patients with migraine, and higher d-dimer levels during migraine attacks compared to the interictal periods for the first time. These findings may be associated with the hypercoagulability and neurogenic inflammation during migraine headaches.  相似文献   

10.

Background

Data are scarce about whether past history of major depressive disorder in the absence of current depression places breast cancer patients at risk for worse quality of life.

Purpose

The current study prospectively examined quality of life during chemotherapy in breast cancer patients with a history of resolved major depressive disorder (n?=?29) and no history of depression (n?=?144).

Methods

Women with Stages 0?CII breast cancer were assessed prior to and at the completion of chemotherapy. Major depressive disorder was assessed via structured interview and quality of life with the SF-36.

Results

Patients with past major depressive disorder displayed greater declines in physical functioning relative to patients with no history of depression (p????0.01).

Conclusions

Findings suggest that breast cancer patients with a history of resolved major depressive disorder are at increased risk for declines in physical functioning during chemotherapy relative to patients with no history of depression.  相似文献   

11.

Background

Neurobiologic studies have suggested that dysregulation of central noradrenergic systems may be involved in the pathophysiology of attention deficit hyperactivity disorder (ADHD), and it has been hypothesized that genetic changes in the norepinephrine pathways might contribute to dysfunction of the prefrontal cortex circuits in ADHD. We previously reported decreased cerebral blood flow in the right lateral prefrontal cortex and both orbitofrontal cortices in children with ADHD. Genetic investigations have shown that the α-2A-adrenergic receptor gene (ADRA2A) is associated with ADHD. Our aim was to examine whether the presence of a risk allele of the ADRA2A MspI polymorphism is associated with differences in regional cerebral blood flow in boys with ADHD.

Methods

We recruited 21 Korean boys with ADHD (mean age 9.9, standard deviation [SD] 2.7 yr) and 11 age- and sex-matched controls (mean age 10.6 [SD 2.1] yr). Each participant underwent technetium-99m-hexamethylpropylene amine oxime (99mTc-HMPAO) single-photon emission computed tomography. We performed image analyses with voxel-wise t statistics using SPM2.

Results

We found regional hypoperfusion in the prefrontal regions, including the right orbitofrontal and right medial gyri, and the bilateral putamen and cerebellum in boys with ADHD relative to controls (p < 0.0005, uncorrected for multiple comparisons). Boys with ADHD who carried the C allele (n = 13) at the ADRA2A MspI polymorphism had reduced perfusion in the bilateral orbitofrontal regions compared with those without the C allele (n = 8) (p < 0.0005, uncorrected for multiple comparisons).

Limitations

This study was limited by the small sample size, and we did not obtain genetic data from the controls.

Conclusion

Our findings suggest that regional differences in cerebral perfusion in the orbitofrontal cortex represent an intermediate neuroimaging phenotype associated with the ADRA2A MspI polymorphism; these data support the validity of the noradrenergic hypothesis regarding the pathophysiology of ADHD.  相似文献   

12.

Background

Cyclooxygenase-2 (COX-2) catalyzes the formation of prostaglandins that contribute to the inflammation in atherosclerosis. The aim of the present study was to investigate the relationship between two polymorphisms (?1195G>A and -765G>C) in the COX-2 gene and subtypes of ischemic stroke in a Chinese population.

Methods

Genomic DNA of 224 patients with large artery atherosclerosis (LAA), 329 patients with small vessel occlusion (SVO), and 450 controls were genotyped for the COX-2 1195G>A (rs689466) and -765G>C (rs20417) polymorphisms using polymerase chain reaction–restriction fragment length polymorphism. Chi-square test and logistic regression analysis were performed for association analysis.

Results

The frequencies of variant allele with -1195G>A and -765G>C polymorphisms were 0.46 and 0.22, respectively. The -1195GA genotype and 1195A allele carriers were identified independently to be related with ischemic stroke (adjusted OR?=?1.51, 95 % CI: 1.09–2.10, P?=?0.02; OR?=?1.45, 95 % CI: 1.06–1.97, P?=?0.02) and SVO (adjusted OR?=?1.57, 95 % CI: 1.07–2.30, P?=?0.02; OR?=?1.50, 95 % CI: 1.05–2.16, P?=?0.03). In contrast, the 1195G>A polymorphism was not associated with LAA. No relationship between the -765G>C polymorphism and risk of either ischemic stroke was observed. The linkage disequilibrium analysis showed that -1195G>A and -765G>C SNPs are moderate linkage disequilibrium in this study population (D′?=?0.72, r 2?=?0.16). Compared with G-1195-G-765 haplotype, the haplotype of A-1195-G-765 showed significant increased risk of ischemic stroke (OR?=?1.27, 95 % CI: 1.05–1.54, P?=?0.02) and SVO (OR?=?1.27, 95 % CI: 1.02–1.58, P?=?0.03) but not LAA.

Conclusions

In conclusion, we found that -1195G>A polymorphism and A-1195-G-765 haplotype of COX-2 were associated with susceptibility to ischemic stroke in a Chinese population. The effects were confined to SVO among the stroke subtypes rather than to LAA.  相似文献   

13.

Background

Conflicting associations with heroin dependence have been found involving the A1 allele of dopamine D2 receptor gene (DRD2) TaqI A polymorphism.

Methods

We compared two samples of unrelated Spanish individuals, all of European origin: 281 methadone-maintained heroin-dependent patients (207 males and 74 females) who frequently used non-opioid substances, and 145 control subjects (98 males and 47 females).

Results

The A1-A1 genotype was detected in 7.1% of patients and 1.4% of controls (P = 0.011, odds ratio = 5.48, 95% CI 1.26–23.78). Although the A1 allele was not associated with heroin dependence in the entire sample, the frequency of A1 allele was higher in male patients than in male controls (24.4% vs. 16.3%, P = 0.024, odds ratio = 1.65, 95% CI 1.07–2.57). A logistic regression analysis showed an interaction between DRD2 alleles and gender (odds ratio = 1.77, 95% CI 1.15–2.70).

Conclusion

Our results indicate that, in Spanish individuals, genotypes of the DRD2 TaqI A polymorphism contribute to variations in the risk of heroin dependence, while single alleles contribute only in males.  相似文献   

14.

Objective

Recent studies have shown an association between migraine and restless legs syndrome (RLS), but RLS prevalence among individuals with migraine differs substantially across studies. The present work aimed to comprehensively assess available evidence to estimate RLS prevalence among individuals with migraine and non-migraine controls.

Method

Web of Science, PubMed, Embase, Chinese National Knowledge Infrastructure, Wanfang, and SinoMed databases were searched for observational and case-control studies of RLS prevalence among individuals with migraine. Eligible studies were meta-analyzed using Stata 12.0 software.

Results

Pooled RLS prevalence in migraine was 19%, and the prevalence was lower in Asia (16%) than outside Asia (21%). Pooled RLS prevalence was 18.8% among individuals with migraine with aura, and 18.5% among individuals with migraine without aura; the RLS prevalence in migraine with aura (MA) was higher than that of migraine without aura (MO) (OR 1.17, 95%CI 1.01–1.34; p?=?0.037). Pooled RLS prevalence in a case-control study was significantly higher among individuals with migraine (17.9%) than among non-migraine controls (7.1%) (OR 2.65, 95%CI 2.26–3.10; p?<?0.001).

Conclusion

Our meta-analysis provides the first reliable pooled estimate of RLS prevalence among individuals with migraine, and it provides strong evidence that RLS risk is higher among individuals with migraine than among controls.
  相似文献   

15.

Purpose

Recurring evidence seems to suggest that sexual trauma in childhood may moderate associations between cannabis consumption and psychosis. It has also been suggested, however, that poor childhood mental health may explain linkages between these phenomena.

Methods

The current study, using data from the National Comorbidity Survey-Replication (N = 2,355), sought to revaluate the stability of the childhood trauma–cannabis interaction while statistically controlling for pre-trauma psychotic experiences and psychopathology in childhood.

Results

Psychotic experiences that occurred before childhood sexual trauma significantly influenced adult psychosis symptomatology (psychosis pre-rape B = 0.10; psychosis pre-sexual assault B = 0.23). Social phobia (B = 0.07) also conferred risk for adult psychosis. Pre-trauma childhood psychopathology, however, did not account for the interaction between childhood sexual trauma and cannabis consumption in a multivariate model. Childhood experiences of rape (B = 0.15) and an interaction between cannabis use and childhood sexual assault (B = 0.05) independently contributed to adult psychosis. Cannabis use conferred no independent risk.

Conclusions

With specific regard to research methodology, the current findings offer further justification for the inclusion of childhood sexual trauma in analyses investigating associations between cannabis use and psychosis.  相似文献   

16.

Objective

To investigate the relations between neuroapoptosis and the onset and development of Alzheimer’s disease (AD), especially the role of NF-κB in the regulation of neuroapoptosis.

Methods

Caspase-3 and NF-κB (p50) expressions in the CA3 region of the hippocampus in APPswe Tg2576 transgenic mice were studied from postnatal day 0–180, using Nissl staining, immunohistochemistry and RT-PCR methods.

Results

Both neuronal apoptosis and NF-κB activity decreased gradually with the increase of age in wild type and Tg2576 mice. However, the number of caspase-3-positive or NF-κB-positive pyramidal cells in Tg2576 mice was greater than that in age-matched wild type mice, with significant differences after postnatal day 14 (P < 0.01 or P < 0.05). Linear regression analyses of caspase-3 and NF-κB expression demonstrated a correlation between neuroapoptosis and activity of NF-κB.

Conclusion

The process of neuroapoptosis is consistent with the onset and development of AD. Furthermore, the observed correlation between neuroapoptosis and NF-κB activity suggests a role of NF-κB in hippocampal neuroapoptosis.  相似文献   

17.

Background

Approximately a quarter to a half of all people fail to take their medication regimen as prescribed (i.e. non-adherence). Conscientiousness, from the five-factor model of personality, has been positively linked to adherence to medications in several recent studies.

Purpose

This study aimed to systematically estimate the strength and variability of this association across multiple published articles and to identify moderators of this relationship.

Method

A literature search identified 16 studies (N?=?3,476) that met the study eligibility criteria. Estimates of effect sizes (r) obtained in these studies were meta-analysed.

Results

Overall, a higher level of conscientiousness was associated with better medication adherence (r?=?0.15; 95 % CI, 0.09, 0.21). Associations were significantly stronger in younger samples (r?=?0.26, 95 % CI, 0.17, 0.34; k?=?7).

Conclusion

The small association between conscientiousness and medication adherence may have clinical significance in contexts where small differences in adherence result in clinically important effects.  相似文献   

18.

Background

A genome-wide association study (GWAS) combined with brain imaging as a quantitative trait analysis revealed that the SNPs near CTXN3-SLC12A2 region were related to forebrain development and stress response which involved in schizophrenia. In the present study, the SNPs in this region were analyzed for association with schizophrenia in a Thai population.

Methods

A total of 115 schizophrenia and 173 unrelated normal controls with mean age of 37.87?±?11.8 and 42.81?±?6.0?years, respectively, were included in this study. Genotyping was performed using polymerase chain reaction and high-resolution melting (HRM) analysis. The difference in genotype distribution between patient and control was assessed by Chi-square test of the SPSS software.

Results

We found a significant association between the GWAS-discovered SNP, rs245178, with the risk of schizophrenia in the Thai population [P?=?0.006, odds ratio for the minor G allele: 0.62(0.46?C0.83)]. Additionally, another potential SNP, rs698172, which was in moderate linkage disequilibrium with rs245178, also showed strong association with schizophrenia [P?=?0.003, odds ratio for minor T allele: 0.61(0.46?C0.82)]. This association remained significant at 5% level after the Bonferroni correction for multiple testing.

Conclusions

This study shows that two SNPs in intergenic of the CTXN3 and SLC12A2 genes, rs245178 and rs698172, are associated with risk of schizophrenia in Thai population. Further study is required for clarification the role of genetic variation around these SNPs in expression pattern of the CTXN3 and SLC12A2 genes, which may be involved in schizophrenia pathogenesis.  相似文献   

19.

Background

Few HIV prevention interventions focus on sexual risk reduction as mutual process determined by couple members, though risk behaviors are inter-dependent.

Purpose

This trial examined the impact of substance use, history of sexual trauma, and intimate partner violence on sexual risk associated with participation in a risk reduction intervention.

Methods

HIV seroconcordant and serodiscordant multicultural couples in Miami, Florida (n?=?216) were randomized to group (n?=?112) or individual (n?=?104) couple-based interventions.

Results

Group intervention participants increased condom use in couples in which women had a history of sexual trauma [F(2,221)?=?3.39, p?=?0.036] and by partners of alcohol users. History of sexual trauma was a determinant of conflict resolution, predicting negative communication and intimate partner violence.

Conclusions

Results emphasize the need for group sexual risk reduction interventions targeting sexual trauma, partner violence, and substance use among HIV seroconcordant and serodiscordant couples.  相似文献   

20.
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司    京ICP备09084417号-23

京公网安备 11010802026262号