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ABSTRACT: BACKGROUND: Anxiety is common in stroke survivors and may adversely affect recovery. Polymorphisms of tryptophan hydroxylase2 (THP2) gene have been shown to be associated with anxiety disorders and other affective disorders. This study was aimed to investigate the association of two polymorphisms of THP2 gene, rs4570625 and rs4565946, with poststroke anxiety disorders in a Han Chinese population. METHODS: This case control study included 112poststroke anxiety patients and 246 non-anxious controls. All participants completed Hamilton Anxiety Rating Scale and DNA was extracted from blood and genotyped for the two polymorphisms of THP2 gene. RESULTS: Results revealed that the G allele of rs4570625 was associated with the increased risk of poststroke anxiety. In the female subgroup, both the GG genotype and G allele were observed to be significantly higher in case than in control. No significant difference in genotype and allele frequencies of the rs4565946 was found between case and control. Haplotype analysis identified that patients with the G-C haplotype had significantly increased the risk of poststroke anxiety. LIMITATIONS: More than 20 TPH2 polymorphisms have been detected, some of which are tightly-linked and may function together, only two SNPs of TPH2 were investigated in this study. CONCLUSIONS: The findings suggest that these polymorphisms in TPH2 gene are involved in development of poststroke anxiety in the Han Chinese population.
Journal of affective disorders 07/2012; · 3.76 Impact Factor
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ABSTRACT: The ADAM10 gene encodes a member of a disintegrin and metalloprotease family, which, after overexpression in Alzheimer's disease (AD), prevents amyloid pathology and improves long-term potentiation and memory. A common polymorphism (rs2305421) within ADAM10 has been recently associated with the risk of developing AD in Europeans. In order to assess the involvement of the ADAM10 polymorphism in the risk of developing late-onset AD (LOAD), we analyzed the genotype and allele distributions of the ADAM10 (rs2305421) polymorphism in 788 Northern Han Chinese subjects. The results revealed no significant differences in the distributions of allele or genotype between LOAD and control groups. However, when these data were stratified by the Apolipoprotein E (ApoE) ε4 status, in the subjects with ApoE ε4, there were significant differences in the allele (P=0.037) and genotype (P=0.035). Moreover, logistic regression analysis revealed that the rs2305421 polymorphism presented strong associations with LOAD in the recessive model (OR=0.611, 95% CI=0.408-0.931, P=0.023). This study suggests that the rs2305421 polymorphism in ADAM10 gene could modify the risk for LOAD in a Northern Han Chinese population.
Brain research 09/2011; 1421:78-81. · 2.46 Impact Factor
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ABSTRACT: To identify and analyze the species of vaginal lactobacilli between patients with bacterial vaginosis (BV) and healthy women at childbearing age in Inner Mongolia.
From Jun. 2008 to Dec. 2008, 203 Mongolian healthy women, 74 Han healthy women and 102 Mongolian patients with BV from 3 pastoral areas were enrolled in this study. Isolation and culture of lactobacilli from vaginal wall were performed by modified culture medium. DNA of lactobacilli were extracted and sequenced. H₂O₂ were detected by TMB-HRP-MRS.
(1) The rate of lactobacilli identification were 76.8% (156/203) in Mongolian healthy women and 21.6% (22/102) in Mongolian patients with BV, which reached statistical difference (P < 0.01). Lactobacilli identification in Han healthy women [82.4% (61/74)] did not show significant difference with that of Mongolian healthy women (P > 0.05). (2) The total of 193 strains and 11 species of Lactobacillus were detected in 203 Mongolian healthy women. Meanwhile, 22 strains and 4 species of Lactobacillus were found in 102 Mongolian BV cases. (3) The rate of H₂O₂ generating Lactobacilli was 27.3% (6/22) in Mongolian BV patients and 75.7% (56/74) in Mongolian healthy women, which showed statistical difference (P < 0.05).
The rate of Lactobacillus was not related with the race of women in pastoral area in Inner Mongolian. The amount of lactobacilli and H₂O₂ generating Lactobacilli in the vagina of BV patients was remarkably lower than those of healthy women at childbearing age.
Zhonghua fu chan ke za zhi 01/2011; 46(1):41-4.
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ABSTRACT: PICALM might play an important role in AD pathology through participating in altering synaptic vesicle cycling or APP endocytosis. A recent genome-wide study (GWAS) identified a single nucleotide polymorphism (SNP) rs3851179 in the 5' to the PICALM gene strongly associated with Alzheimer's disease (AD) in Caucasians. In order to assess the involvement of the PICALM polymorphism in the risk of developing late-onset AD (LOAD), we analyzed the genotype and allele distributions of these three polymorphisms in 609 Han Chinese subjects. Our data showed no significant association between the PICALM rs3851179 polymorphism and LOAD (genotype distribution: P=0.43; allele frequency: P=0.25, odds ratio=0.87, 95% confidence interval=0.68 to 1.10), even after statistical adjustment for age, gender and apolipoprotein E (APOE) status. Our results suggest that the PICALM polymorphism may not play a major role in the development of LOAD in the Han Chinese population.
Journal of the neurological sciences 10/2010; 300(1-2):78-80. · 2.32 Impact Factor
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ABSTRACT: to investigate the relationship between the ultrastructural features combined with the expression of connexin (Cx43) protein in uterine junction zone and pathogenesis of adenomyosis.
from Nov. 2008 to Nov. 2009, 30 patients with adenomyosis (including 14 cases with proliferative endometrium and 16 cases with secretory endometrium) as study group matched with 30 women with cervical intraepithelial neoplasia (CIN) III treated by hysterectomy as control group were enrolled in this study in Affiliated Hospital to Inner Mongolia Medical College. The expression of Cx43 in uterine junction zone of patients with adenomyosis was detected by immunohistochemisty staining. The ultrastucture of eutopic endometrium, uterine junction zone and outer 1/3 myometrium in both groups without history of dilatation and curettage, C-section and uterine surgery were observed by using transmission electron microscopy.
(1) the expression of Cx43 in proliferative and secretroy uterine junction zone were 0.133 ± 0.018 and 0.137 ± 0.021 in study group and 0.154 ± 0.016 and 0.141 ± 0.018 in control group, which reached statistical difference (P < 0.05). However, it didn't show significant expression of Cx43 between proliferative and secretory uterine junction zone in study or control group (P > 0.05). The expression of Cx43 in proliferative and secretory of eutopic endometrium of 0.067 ± 0.017 and 0.062 ± 0142 in study group were significantly lower than 0.094 ± 0.005 and 0.080 ± 0.005 in control group. It didn't show statistical difference of Cx43 expression between proliferative and secretroy eutopic endometrium in both group. The expression Cx43 in outer myometrium of proliferative phase were 0.184 ± 0.022 in study group and 0.188 ± 0.028 in control group, which did not show significant difference (P > 0.05). It also did not exhibit statistical difference of Cx43 expression in outer myometrium of secretory phase (0.178 ± 0.022, 0.191 ± 0.025, P > 0.05). (2) Morphological changes: the area of uterine smooth muscle cells of the uterine junction zone of (24.3 ± 1.6) microm(2) in study group were significantly increased than (21.8 ± 2.0) microm(2) in control group (P < 0.01). The length of the cell membrane dense plaques of (1.07 ± 0.17) microm in study group was significantly increased than (0.71 ± 0.07) microm in control group (P < 0.01). The myocytes exhibited cellular hypertrophy and disordered arrangement and fewer caveolae. There was cylindrical and dentate, chromatin margination, more heterochromatin in which muscle cells of nuclear surface of the uterine junction zone. Less cytoplasmic myofilaments and more intermediate filaments. Mitochondria were increased, the volume increased significantly vacuolization. The rough endoplasmic reticulum and Golgi apparatus were more prominent. Otherewise, mast cells and fibroblasts were close and glandular epithelial cells showed desmosome connection which villus thickening and dense. All features were more prominent at the junctional zone.
the down-regulation of Cx43 expression and ultrastructure changes in the junction zone might play an important role in pathogenesis of adenomyosis.
Zhonghua fu chan ke za zhi 10/2010; 45(10):762-6.
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ABSTRACT: Interleukin-33 (IL-33), a newly described member of the IL-1 family, is located on chromosome 9p24, a chromosomal region of interest in Alzheimer's disease (AD) defined by many genome-wide studies. Three intronic rs1157505, rs11792633, and rs7044343 single nucleotide polymorphisms (SNPs) within IL-33 have recently been reported to be associated with risk of AD in Caucasian populations. In order to assess the involvement of the IL-33 polymorphisms in the risk of developing late onset AD (LOAD), we analyzed the genotype and allele distributions of these 3 polymorphisms in 704 Han Chinese subjects. The minor alleles of the rs11792633 polymorphism within IL-33 was significantly associated with a reduced risk of LOAD (odds ratio [OR] = 0.73, p = 0.005). Furthermore, rs11792633 polymorphism was still strongly associated with LOAD (dominant model: OR = 0.67, p = 0.015; recessive model: OR 0.57, p = 0.021; additive model: OR = 0.71, p = 0.004) after adjusting for age, gender, and the apolipoprotein E (APOE) ε4 status. Our results support the evidence that genetic variants of IL-33 affect susceptibility to LOAD in Han Chinese.
Neurobiology of aging 08/2010; 33(5):1014.e11-4. · 5.94 Impact Factor
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ABSTRACT: To investigate influences of the functional polymorphisms of Cytochrome P450 isozymes 2A6 (CYP2A6), 2B6 (CYP2B6), and 2C9 (CYP2C9) on pharmacokinetics of VPA in vivo.
In the study, we analyzed the genotypes of CYP2A6, CYP2B6, and CYP2C9 and their contribution to the steady-state standardized plasma VPA concentrations in 179 subjects with epilepsy of a Northern Han Chinese population. The genotypes were detected by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
The subjects with one or two variant CYP2A6*4 alleles showed higher mean plasma VPA concentrations compared with non-*4 alleles [(3.4+/-0.4)microg kg ml(-1)mg(-1) vs. (3.6+/-0.4)microg kg ml(-1)mg(-1), p=0.0055]. A significant difference [one-way ANOVA (p=0.0203)] was also found between mean plasma VPA concentrations and the CYP2B6 genotypes. In addition, subjects with the heterozygous genotype CYP2C9*3 had higher mean plasma VPA concentrations than did those subjects with the wild-type genotype [(3.9+/-0.4)microg kg ml(-1)mg(-1) vs. (3.4+/-0.4)microg kg ml(-1)mg(-1), p=0.0001].
The presently evaluated variant alleles in the CYP2A6, CYP2B6, and CYP2C9 genes may explain part of the substantial variability in VPA pharmacokinetics between different subjects.
Clinical neurology and neurosurgery 05/2010; 112(4):320-3. · 1.30 Impact Factor
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ABSTRACT: Ischemic stroke (IS) is a major cause of morbidity and mortality around the world. Interleukin-18 (IL-18) plays an important role in the pathogenesis of IS and IL-18 promoter polymorphisms have been shown to be associated with levels of expression of IL-18. We investigated the association of two functional polymorphisms in IL-18 promoter, -607C/A (rs1946518) and -137G/C (rs187238), with the risk of ischemic stroke in a Han Chinese population of 423 patients and 384 healthy controls matched for sex and age. The results revealed that the -607C allele was associated with an increased risk of IS with an odds ratios (OR) of 1.358 (P = 0.002, power = 100%) and the presence of the -137G allele was correlated with increased the risk of IS in the subtype of patients with large artery atherosclerosis (LAA) (OR = 1.583, P = 0.02, power = 94%). Patients with the -607C/-137G haplotype also had significantly increased risk of IS compared to controls (OR = 1.341, P = 0.005, power = 100%). Our findings suggest that these functional polymorphisms in the IL-18 promoter are involved in development of IS in the Han Chinese population.
Brain research bulletin 04/2010; 81(6):590-4. · 2.18 Impact Factor
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ABSTRACT: Stroke is the second most common cause of death in developed countries and a major cause of adult disability and mortality worldwide. New data strongly suggest that neuropeptide Y (NPY) may be a candidate gene for ischemic stroke.
We investigated 450 ischemic stroke patients and 423 healthy controls matched for sex and age in a Han Chinese population. Three functional polymorphisms (-883TGins/del, -602G/T and -399 T/C) located in NPY gene promoter were genotyped using DNA sequencing methods.
Of 3 NPY polymorphisms investigated in our study, the -399CC genotype (OR: 1.699, 95% CI: 1.124-2.567, P=0.011) and the -399C allele (OR: 1.254, 95% CI: 1.031-1.524, P=0.023) were more frequent among ischemic stroke patients than in controls, especially in the small vessel disease (SVD) subtype patients. The similar results were observed in multivariable logistic regression analysis. Haplotype analysis revealed that the -883ins/-399C haplotype was a risk marker for ischemic stroke (P=0.008).
The C allele of -399 T/C polymorphism in the promoter regions of NPY is an independent risk factor for ischemic stroke, suggesting that NYP system may involve in the mechanisms of stroke pathology.
Clinica chimica acta; international journal of clinical chemistry 11/2009; 411(3-4):242-5. · 2.54 Impact Factor
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ABSTRACT: Pro- and anti-inflammatory cytokines play an important role in Alzheimer's disease (AD), and common polymorphisms of genes controlling their production have been shown to be associated with the susceptibility to sporadic AD. Interleukin (IL)-18 is a potent pro-inflammatory cytokine of the IL-1 superfamily, and increasing evidences indicate a crucial role for it in the pathogenesis of AD. To clarify the role of IL-18 as a potential cause for AD susceptibility, we investigated the effect of two functional polymorphisms in IL-18 promoter: -607 C/A (rs1946518) and -137 G/C (rs187238) for the risk of sporadic late onset Alzheimer's disease (LOAD) in a Han Chinese population of 109 patients and 109 healthy controls matched for sex and age. All 218 subjects were also genotyped for the Apolipoprotein E (ApoE) polymorphisms. The results revealed that both -607 C allele and -137 G allele were associated with an increased risk of LOAD (odds ratios/OR=1.56, P=0.04, Power=0.96 and OR=1.85, P=0.03, Power=0.80, respectively), and these associations were influenced by the presence of ApoE epsilon4 alleles. Moreover, they showed a highly significant synergistical interaction with the ApoE epsilon4 allele (OR=5.70 and 4.64, respectively). Examination of the haplotypes identified the -607 C/-137 G haplotype to increase the risk of LOAD (OR=1.62, P=0.003, Power=0.97). These findings suggest that the functional polymorphisms in IL-18 promoter may be involved in the risk of developing sporadic LOAD in the Han Chinese population.
Brain research 01/2009; 1253:169-75. · 2.46 Impact Factor
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ABSTRACT: Increasing evidence indicates that the beta2-adrenergic receptor (beta2-AR) may play an important role in Alzheimer's disease (AD). We investigated the effect of two polymorphisms in the beta2-AR gene: Gly16Arg and Gln27Glu for the risk of sporadic Late Onset Alzheimer's Disease (LOAD) in 109 patients and 109 healthy controls matched for sex and age in a Han Chinese population. Results revealed that both the 16Gly allele and the 27Glu allele of the beta2-AR gene were associated with an increased risk of LOAD (P=0.009, OR=1.652 and P=0.002, OR=2.846, respectively), and they also showed a highly significant interaction with the Apolipoprotein E gene (APOE) epsilon4 allele (OR=4.200 and 9.441, respectively). Examination of the haplotypes identified the Gly16Glu27 haplotype to increase the risk of LOAD (P=0.004). Our results suggest that variations in the beta2-AR gene play an important role in the pathogenesis of sporadic LOAD, and interact with the epsilon4 allele to markedly increase the LOAD risk.
Brain Research 06/2008; 1210:216-22. · 2.73 Impact Factor
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ABSTRACT: To investigate the effect of UGT1A6 genetic polymorphisms on the serum concentration of sodium valproate so as to help better individualize the medication for patients with epilepsy.
Peripheral blood samples were collected for 67 patients receiving sodium valproate after more than 5 half-time periods, aged 17.5 (5 - 52). The genotypes of UGT1A6 were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay to examine the alleles 552A-->C. Fluorescence polarization immunoassay (FPIA) was used to measure the serum concentration of sodium valproate and the results were standardized by dosage and body weight.
Out of the 67 cases, 40 (59.7%) were with the wild genotype of UGT1A6 gene, 24 (35.8%) were with the A/C genotype, and 3 (4.5%) were with the C/C genotypes. The frequencies of 552A-->C were 22.4%. The mean value of the serum concentration of sodium valproate with A/A genotype was 4.32 +/- 0.2, significantly higher than that of the patients with A/C genotype (3.43 +/- 0.30, P < 0.05). When the genotypes A/C and C/C were considered as a group, the mean value of the serum concentration of sodium valproate was 3.40 +/- 0.28, significantly lower than that of the patients with A/A genotype (P < 0.05).
Sodium valproate is metabolized via uridine diphospho-glucuronosyltransferase. The genetic polymorphisms of UGT1A6 gene affect the metabolism of sodium valproate. The dosage of sodium valproate for the patients with 552C allele in UGT1A6 should be more than the usual dosage.
Zhonghua yi xue za zhi 08/2007; 87(29):2033-5.
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ABSTRACT: Increasing evidence indicates that the β2-adrenergic receptor (β2-AR) may play an important role in Alzheimer's disease (AD). We investigated the effect of two polymorphisms in the β2-AR gene: Gly16Arg and Gln27Glu for the risk of sporadic Late Onset Alzheimer's Disease (LOAD) in 109 patients and 109 healthy controls matched for sex and age in a Han Chinese population. Results revealed that both the 16Gly allele and the 27Glu allele of the β2-AR gene were associated with an increased risk of LOAD (P = 0.009, OR = 1.652 and P = 0.002, OR = 2.846, respectively), and they also showed a highly significant interaction with the Apolipoprotein E gene (APOE) ε4 allele (OR = 4.200 and 9.441, respectively). Examination of the haplotypes identified the Gly16Glu27 haplotype to increase the risk of LOAD (P = 0.004). Our results suggest that variations in the β2-AR gene play an important role in the pathogenesis of sporadic LOAD, and interact with the ε4 allele to markedly increase the LOAD risk.
Brain Research.
