Association of unipolar depression with gene polymorphisms in the serotonergic pathways in Han Chinese

Objective:The present study aims to investigate the association of unipolar depression (UPD) with six serotonergic gene polymorphisms in Han Chinese.Methods:One hundred and thirty-two UPD patients and 180 healthy controls were genotyped for polymorphisms of six serotonergic genes, including tryptophan hydroxylase (TPH1 A218C), serotonin transporter promoter region (5-HTTLPR), serotonin receptor 2A (5-HT2AR −1438G/A), serotonin receptor 2C (5-HT2CR Cys23Ser), serotonin receptor 6 (5-HT6R C267T) and serotonin receptor 1Dβ (5-HT1DβR T371G). Symptomatic clusters were evaluated by the 24-item Hamilton Rating Scale for Depression (HAMD).Results:The frequencies of S/S genotype and S allele in 5-HTTLPR polymorphism were significantly higher in UPD patients than in healthy controls. There was a significant difference in distributions of genotypes in 5-HT2CR Cys23Ser polymorphism between UPD patients and control subjects, but the difference became no significant when the data were further stratified by gender. The patients with genotypes G/G and T/G of 5-HT1DβR T371G polymorphism had significantly lower scores of diurnal variation evaluated by HAMD than those with genotype T/T, while the patients with genotype T/G had significantly higher scores of hopelessness than those with genotypes G/G and T/T. There were no significant differences in genotypic and allelic distributions of TPH1 A218C, 5-HT2AR −1438G/A or 5-HT6R C267T polymorphisms between the case and control groups.Conclusion:The study demonstrates that 5-HTTLPR and 5-HT2CR Cys23Ser polymorphisms might contribute to susceptibility of UPD, and the genotype T/T in 5-HT1DβR T371G polymorphism might be a risk factor for diurnal variation, while T/G might be a protective factor against hopelessness in Han Chinese populations.

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Association between IFN-γ+874A/T and IFN-γR1 (-611A/G, +189T/G, and +95C/T) Gene Polymorphisms and Chronic Periodontitis in a Sample of Iranian Population

International Journal of Dentistry ◽

10.1155/2015/375359 ◽

2015 ◽

Vol 2015 ◽

pp. 1-8 ◽

Cited By ~ 12

Author(s):

Zahra Heidari ◽

Hamidreza Mahmoudzadeh-Sagheb ◽

Mohammad Hashemi ◽

Somayeh Ansarimoghaddam ◽

Bita Moudi ◽

...

Keyword(s):

Gene Polymorphism ◽

Genetic Polymorphisms ◽

Chronic Periodontitis ◽

Gene Polymorphisms ◽

Healthy Controls ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Significant Difference ◽

Pcr Rflp ◽

And Control

Background. Interferon gamma (IFN-γ) is an immune regulatory cytokine that acts through its receptor and plays important role in progression of inflammatory disease such as chronic periodontitis (CP). The purpose of this study was to determine the differences in the distribution of IFN-γ(+874A/T) and IFN-γR1 (-611A/G, +189T/G, and +95C/T) gene polymorphisms among CP and healthy individuals and to investigate relationships between these polymorphisms and susceptibility to CP.Materials and Methods. 310 individuals were enrolled in the study including 210 CP patients and 100 healthy controls. Single nucleotide polymorphisms at IFN-γ(+874A/T) and IFN-γR1 (-611A/G, +189T/G, and +95C/T) were analyzed by ARMS-PCR and PCR-RFLP methods.Results. The significant difference was found in genotype and allele frequency of IFN-γ(+874A/T) gene polymorphism in chronic periodontitis patients and healthy controls. The distribution of genotypes and allele frequencies for IFN-γR1 (-611A/G, +189T/G, and +95C/T) were similar among the groups and no differences in the frequencies of alleles or genotypes of IFN-γR1 genetic polymorphisms variants between case and control groups were detected.Conclusion.The finding of this study showed that IFN-γ+874A/T gene polymorphism may affect susceptibility to CP, whereas IFN-γR1 genetic polymorphisms at -611A/G, +189T/G, and +95C/T were not associated with this disease.

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Association of the CACNA2D2 gene with schizophrenia in Chinese Han population

PeerJ ◽

10.7717/peerj.8521 ◽

2020 ◽

Vol 8 ◽

pp. e8521

Author(s):

Yingli Fu ◽

Na Zhou ◽

Wei Bai ◽

Yaoyao Sun ◽

Xin Chen ◽

...

Keyword(s):

Calcium Channel ◽

Chinese Women ◽

Han Chinese ◽

Type I ◽

Genotype Distribution ◽

Healthy Controls ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Increased Risk ◽

Significant Difference

Background Schizophrenia (SCZ) is a severely complex psychiatric disorder in which ~80% can be explained by genetic factors. Single nucleotide polymorphisms (SNPs) in calcium channel genes are potential genetic risk factors for a spectrum of psychiatric disorders including SCZ. This study evaluated the association between SNPs in the voltage-gated calcium channel auxiliary subunit alpha2delta 2 gene (CACNA2D2) and SCZ in the Han Chinese population of Northeast China. Methods A total of 761 SCZ patients and 775 healthy controls were involved in this case-control study. Three SNPs (rs3806706, rs45536634 and rs12496815) of CACNA2D2 were genotyped by the MALDI-TOF-MS technology. Genotype distribution and allele frequency differences between cases and controls were tested by Chi-square (χ2) in males and females respectively using SPSS 24.0 software. Linkage disequilibrium and haplotype analyses were conducted using Haploview4.2. The false discovery rate correction was utilized to control for Type I error by R3.2.3. Results There was a significant difference in allele frequencies (χ2 = 9.545, Padj = 0.006) and genotype distributions (χ2 = 9.275, Padj = 0.006) of rs45536634 between female SCZ patients and female healthy controls after adjusting for multiple comparisons. Minor allele A (OR = 1.871, 95% CI [1.251–2.798]) and genotype GA + AA (OR = 1.931, 95% CI [1.259–2.963]) were associated with an increased risk of SCZ. Subjects with haplotype AG consisting of rs45536634 and rs12496815 alleles had a higher risk of SCZ (OR = 1.91, 95% CI [1.26–2.90]) compared those with other haplotypes. Conclusions This study provides evidence that CACNA2D2 polymorphisms may influence the susceptibility to SCZ in Han Chinese women.

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Brain Volumetric Changes and Cognitive Functions in Epileptic Patients

QJM ◽

10.1093/qjmed/hcaa054 ◽

2020 ◽

Vol 113 (Supplement_1) ◽

Author(s):

A A Ashour ◽

A M A Nassef ◽

E M Awad ◽

A M Hazzou ◽

M A Nada ◽

...

Keyword(s):

Cognitive Functions ◽

Brain Volume ◽

Control Group ◽

Healthy Controls ◽

Whole Brain ◽

Significant Difference ◽

Epileptic Patients ◽

Generalized Epilepsy ◽

Patients With Epilepsy ◽

And Control

Abstract Background Epilepsy is a serious common neurological disorder that can affect any age. Cognitive functions are highly prevalent in patients with epilepsy and is more likely to occur in patients with idiopathic generalized epilepsy (IGE). Associations were found between cognitive functions and brain volume loss in patients with epilepsy. Objective This work was carried out to assess the volumetric changes in brain of epileptic patients to use it as a biomarker for cognitive dysfunction in adult and adolescent patients with epilepsy. Patients and Methods A case control study was conducted to include 61 patients, 20 of which diagnosed with idiopathic generalized epilepsy (IGE), 21 with temporal lobe epilepsy (TLE) and 20 with frontal lobe epilepsy (FLE) who were selected from the epilepsy outpatient clinic in Ain Shams university hospitals along with 23 age and sex matched healthy controls. Both cases and control groups were subjected to Magnetic resonance imaging MRI brain volumetry and detailed cognitive testing. An informed consent was taken from each adult patient, guardian of adolescent patient and healthy control. Results Statistically significant difference in comprehension subcategory of the Wechsler adult intelligence scale (WAIS) between patients with IGE and healthy controls denoting poorer social judgment in the IGE group. The IGE group also showed poorer performance in digit symbol subcategory of the same test denoting worse psychomotor speed and sustained attention. Also, significant difference in similarities subcategory was found between TLE group and control group denoting poorer abstract thinking among the TLE group. The IGE and TLE groups also showed lower attention and concentration than control group in the mental control subcategory of the Wechsler memory scale (WMS) yet failed to show superiority over each other. No statistically significant difference was found on comparing the whole brain volume between cases and control groups. A statistically significant direct relationship was found between the arithmetic subcategory of WAIS and the whole brain volume of the patients among the patients of the FLE group. Conclusion Patients with IGE had worse psychomotor speed, sustained attention and concentration than healthy controls in addition to poorer social judgment. Also, patients with TLE showed lower attention and concentration together with poorer abstract thinking despite normal IQ. The study also concluded that increased whole brain volume in patients with frontal lobe epilepsy is associated with better mathematical problem solving.

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OCT Angiography of the Central Macular Capillary Network in Glaucoma Patients and Healthy Controls

Klinische Monatsblätter für Augenheilkunde ◽

10.1055/s-0043-124651 ◽

2018 ◽

Vol 235 (04) ◽

pp. 436-444

Author(s):

Olena Müller ◽

Margarita G. Todorova ◽

Torsten Schlote

Keyword(s):

Optical Coherence Tomography ◽

Structural Changes ◽

Ganglion Cells ◽

Retinal Nerve Fibre Layer ◽

Vessel Density ◽

Healthy Controls ◽

Optical Coherence ◽

Significant Difference ◽

Nerve Fibre Layer ◽

And Control

Abstract Purpose We aimed to investigate central macular microvasculature by optical coherence tomography angiography (OCTA) and to analyse its relation to alterations in classical parameters of optical coherence tomography (OCT) in glaucoma patients. Methods Using OCTA (Avanti incl. AngioVue; Optovue, Inc., Fremont, CA), the superficial flow (SF) and the superficial non-flow (SNF) area of the macula, as well as the S-ETDRS (based on Early Treatment Diabetic Retinopathy charts). and S-grid vessel density (zones 1 – 9) of the macula, were evaluated in 27 glaucoma patients (49 eyes) and compared to those of 27 age-matched healthy controls (50 eyes; p = 0.253). The interactions between OCTA parameters representing macular microvasculature and classical OCT measurements of the circumpapillary retinal nerve fibre layer (RNFL) and macular ganglion cells (mGCC) were analysed within groups (linear mixed-effects model). Results SF, SNF, and S-ETDRS vessel density exhibited no significant difference between the glaucoma and control groups (all p ≥ 0.158). However, within the glaucoma group, decreased RNFL and mGCC thickness correlated significantly with decreased S-ETDRS density (zones 1; 2 – 9, p ≤ 0.033). The same held true for the interactions between the RNFL and mGCC thickness with S-grid density (zones 1 – 3; 6 – 9; p ≤ 0.033). For perimetric glaucoma patients, subgroup analyses demonstrated significantly reduced density maps of superficial foveal flow as well as significant interactions between OCT and OCTA parameters; this was not the case within the preperimetric group. Conclusions Even if the central macular microvasculature, as measured by SF and SNF, is found preserved in glaucoma, the strong positive relation between the central microvascular and structural changes in OCTA and OCT indicates that there are alterations in central macular microvasculature in subclinical glaucoma.

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The Correlation Analysis of Venous Thromboembolism and Acute Myocardial Infarction with the Levels and Polymorphisms of Coagulation and Anticoagulation Factors.

Blood ◽

10.1182/blood.v110.11.3929.3929 ◽

2007 ◽

Vol 110 (11) ◽

pp. 3929-3929

Author(s):

Linhua Yang ◽

Xuanmao Han ◽

Zhenhua Qiao ◽

Jinfang Ren ◽

Xiue Liu ◽

...

Keyword(s):

Myocardial Infarction ◽

Acute Myocardial Infarction ◽

Venous Thromboembolism ◽

Gene Polymorphisms ◽

Allele Frequencies ◽

Occurrence Rate ◽

Healthy Group ◽

Significant Difference ◽

And Control ◽

D Dimer

Abstract To evaluate levels of coagulation /anticoagulation factors and distribution of their gene polymorphisms in patients with venous thromboembolism(VTE) and acute myocardial infarction(AMI). Of 95 VTE, 95 AMI patients and 95 normal controls were be studied. The results showed that the levels of fibrinogen and D-Dimer, the activies of FII, FV and FVIII were remarkably higher in patient with VTE than those in healthy group, and the activities of FIX, PC and AT were of no significant difference between VTE group and healthy group. The mean levels of fibrinogen, D-Dimer, FV:C and FVIII:C were significantly higher in AMI group than that in controls; while, no significant difference of FII:C, FIX:C, PC:A and AT:A between AMI patients and the controls. In controls, -148CT + -148TT was associated with higher fibrinogen concentrations, the genotypes of other gene polymorphisms were not associated with levels of coagulation /anticoagulation factors. Clear difference were observed for the T allele frequencies of -148C/T and distribution frequencies of FII A19911G were found between VTE group and normal group. there was significant difference of -1476TT genotype distributions and T allele frequencies in -1476A/T between VTE and control subjects. There was significant difference of AC+CC genotype distribution in 1298 A/C polymorphisms between AMI and control, and it was so with the GA genotype in 1793 G/A polymorphisms. But neither genotype frequencies nor allele frequencies of other polymorphisms were found to be no of significant difference between VTE /AMI group and control group. This study proved the importance of combined functions of several coagulant factors in causing VTE and AMI. The carriage of the C148T mutation, FII 20210G/A and -1476A/T polymorphism might be associated with an increased risk of VTE, while the MTHFR 1298A/C and 1793G/A polymorphisms may be related to the development of AMI. Only some of joint occurrence of above polymorphisms might increase the occurrence rate of VTE or AMI.

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Interferon Gamma +874A/T Polymorphism in Children with Idiopathic Thrombocytopenic Purpura

Blood ◽

10.1182/blood.v112.11.4539.4539 ◽

2008 ◽

Vol 112 (11) ◽

pp. 4539-4539

Author(s):

Fatih Demircioglu ◽

Hale Ören ◽

Sefa Kizildag ◽

Sebnem Yilmaz ◽

Berna Atabay ◽

...

Keyword(s):

Allele Frequency ◽

Interferon Gamma ◽

Gene Polymorphisms ◽

Statistical Difference ◽

Control Group ◽

Blood Samples ◽

Chronic Itp ◽

Significant Difference ◽

Acute Itp ◽

And Control

Abstract A recent study showed that expression of Toll-like receptor and interferon-gamma associated genes is significantly increased in patients with chronic ITP. Interferon-gamma is an important protein which takes place in immunoregulation. +874A/T polymorphism in the first introne of interferon gamma gene is found to be associated with the development and clinical phenotype of some autoimmune diseases such as diabetes mellitus, thyroiditis, multiple sclerosis, and SLE. The aim of our study was to investigate whether interferon gamma +874A/T polymorphism is a risk factor for the development of ITP and whether it affects the clinical course and response to the treatment. Thirty five children with acute ITP and 40 children with chronic ITP who were followed for at least 6 months were included. Control group consisted 90 healthy children. Two millilitres of blood sample was taken into sterile tubes containing 0.1% EDTA from each child and all blood samples were stored at −20 until analysis. DNA was isolated from blood samples and interferon gamma +874A/T polymorphism was studied with real-time PCR and LightCycler TM. Twenty one patients had AA, 35 patients had AT, and 19 patients had TT genotype. In the control group, 47 children had AA, 36 children had AT, and 7 children had TT genotype. There was a statistical difference between ITP and control group regarding the genotype (p=0.001). The frequency of A and T alleles in ITP group was 52% and 48%, respectively. The frequency of A and T alleles in control group was 72.7% and 27.8%, respectively. The frequency of allele distribution was statistically different between the ITP and control groups (p<0.0001). There was a statistical significant difference between acute ITP and control group regarding the frequency of AA, AT, and TT gene polymorphisms and allele frequency (p=0.002, p=0.002). Similarly, there was a statistical significant difference between chronic ITP and control group regarding the frequency of AA, AT, and TT gene polymorphisms and allele frequency (p=0.008, p=0.002). The frequency of AA, AT, and TT gene polymorphisms and allele frequency showed no statistical difference between acute and chronic ITP groups (p=0.285, p=0.896). There was no correlation between interferon gamma +874A/T polymorphism and severity of bleeding (mild, moderate and severe) (p=0.09). There was no correlation between interferon gamma +874A/T polymorphism and response to long term treatment in patients with chronic ITP (p=0.568). In conclusion, there was a significant difference between patients with ITP and children in control group regarding interferon gamma +874A/T polymorphism and in the light of recent data involving other autoimmune disorders, we think that interferon gamma +874A/T polymorphism may be a risk factor for ITP.

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Investigation of five polymorphic DNA markers associated with late onset Alzheimer disease

Genetika ◽

10.2298/gensr1302503g ◽

2013 ◽

Vol 45 (2) ◽

pp. 503-514 ◽

Cited By ~ 7

Author(s):

Jalal Gharesouran ◽

Maryam Rezazadeh ◽

Mohaddes Mojtaba

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Dna Markers ◽

Neurodegenerative Disorder ◽

Late Onset ◽

The Elderly ◽

Healthy Controls ◽

Genotype Frequencies ◽

Significant Difference ◽

And Control

Alzheimer's disease is a complex neurodegenerative disorder characterized by memory and cognitive impairment and is the leading cause of dementia in the elderly. The aim of our study was to examine the polymorphic DNA markers CCR2 (+190 G/A), CCR5?32, TNF-? (-308 G/A), TNF-? (-863 C/A) and CALHM1 (+394 C/T) to determine the relationship between these polymorphisms and the risk of late onset Alzheimer's disease in the population of Eastern Azerbaijan of Iran. A total of 160 patient samples and 163 healthy controls were genotyped by PCR-RFLP and the results confirmed using bidirectional sequencing. Statistical analysis of obtained data revealed non-significant difference between frequency of CCR5?32 in case and control groups. The same result was observed for TNF-? (-863 C/A) genotype and allele frequencies. Contrary to above results, significant differences were detected in frequency of TNF-? (-308 G/A) and CCR2-64I genotypes between the cases and healthy controls. A weak significant difference observed between allele and genotype frequencies of rs2986017 in CALHM1 (+394 C/T; P86L) in patient and control samples. It can be concluded that the T allele of P86L variant in CALHM1 & +190 G/A allele of CCR2 have a protective role against abnormal clinical features of Alzheimer's disease.

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The Association Between the Serotonin Receptor Type 1B (HTR1B) Gene rs13212041 Polymorphism and Trait Anxiety in China Han College Subjects

10.21203/rs.3.rs-345407/v1 ◽

2021 ◽

Author(s):

Xiaofei Ruan ◽

Suwen Fang ◽

qi zheng ◽

Senqing Qi ◽

Yingfang Tian ◽

...

Keyword(s):

Emotional Disorders ◽

Trait Anxiety ◽

Gene Polymorphisms ◽

Serotonin Receptor ◽

Protective Factor ◽

Receptor Type ◽

Personality Factor ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Development Of Anxiety

Abstract Trait anxiety is a vulnerable personality factor for anxiety and depression. High levels of trait anxiety confer elevated risk for the development of anxiety and other psychiatric disorders. There is evidence that serotonin receptor type 1B (5-HT1B) gene polymorphisms play an important role in emotional disorders. Genotyping for four single-nucleotide polymorphisms (SNP) (rs11568817, rs130058, rs6297 and rs13212041) was conducted for 388 high trait-anxious (HTA) individuals and 463 low trait-anxious (LTA) individuals in China Han college subjects. The results showed that the frequency of the C-allele and TC+CC genotype in rs13212041 in the LTA individuals was higher than that in the HTA individuals (p = 0.025 and p = 0.014, respectively). Both the C-allele and TC+CC genotype were associated with trait anxiety decreasing (OR = 0.771 and OR = 0.71, respectively). Furthermore, different gene models analysis also showed that the C allele is a protective factor in trait anxiety in Chinese Han college subjects. These findings suggest that the variance in 5-HT1B gene polymorphisms may play a role in trait anxiety in China Han college subjects. The rs13212014 polymorphism may be involved in decreasing the risk of trait anxiety. These results also provide a novel insight into the molecular mechanism about trait anxiety.

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Evaluation of neutrophil to lymphocyte ratio, platelet to lymphocyte ratio, and lymphocyte to monocyte ratio in patients with cellulitis

Revista da Associação Médica Brasileira ◽

10.1590/1806-9282.66.8.1077 ◽

2020 ◽

Vol 66 (8) ◽

pp. 1077-1081 ◽

Cited By ~ 1

Author(s):

Nevin Ince ◽

Ertuğrul Güçlü ◽

Mehmet Ali Sungur ◽

Oğuz Karabay

Keyword(s):

Subcutaneous Tissue ◽

Neutrophil To Lymphocyte Ratio ◽

Healthy Controls ◽

Platelet To Lymphocyte Ratio ◽

Roc Curve Analysis ◽

Lymphocyte Ratio ◽

Diagnosis And Prognosis ◽

Lymphocyte To Monocyte Ratio ◽

Significant Difference ◽

And Control

SUMMARY OBJECTIVE Cellulite infection is a non-necrotizing inflammation of the skin and subcutaneous tissue and is one of the most common reasons for admission to hospital. This retrospective study aimed to investigate the Neutrophil to Lymphocyte Ratio (NLR), Platelet to Lymphocyte Ratio (PLR), and Lymphocyte to Monocyte Ratio (LMR) in patients with cellulitis. METHODS In our study, we retrospectively analyzed 96 patients with cellulitis and 98 age- and sex-matched healthy controls. The study and control groups were compared regarding NLR, PLR, and LMR.0.001). When patients with cellulitis were divided into two groups, i.e., ≥65 years and <65 years, a statistically significant difference was noted in the NLR and LMR values (p < 0.05). In the ROC curve analysis, NLR had the highest discriminative power in distinguishing between cellulitis and healthy controls (AUC = 0.950, 95% CI: 0.920–0.979, p < 0.001; 91.6% sensitivity and 89.8% specificity). CONCLUSION NLR was significantly higher in differentiating cellulite and in patients older than 65 years. Larger, prospective studies are required to determine its usefulness in assessing differential diagnosis and prognosis in cellulitis patients.

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Prevalence and Influencing Factors of Eczema Among Preschool Children in Urumqi City: A Cross-Sectional Survey

10.21203/rs.3.rs-132229/v1 ◽

2020 ◽

Author(s):

Haonan Shi ◽

Guangsheng Wan ◽

Tingting Wang ◽

Jia Zhu ◽

Lan Jiang ◽

...

Keyword(s):

Preschool Children ◽

Protective Factor ◽

Multivariate Logistic Regression Analysis ◽

Han Chinese ◽

Living Environment ◽

Cluster Sampling ◽

Cross Sectional Survey ◽

Cross Sectional ◽

Strong Basis ◽

And Control

Abstract Background: We explored the prevalence of eczema and indoor environmental factors in preschool children in Urumqi, Xinjiang, to provide a strong basis for the prevention and control of preschool eczema. Methods: Using stratified random cluster sampling, we conducted a self-administered questionnaire survey among 8153 parents of children aged 2–8 years in 60 kindergartens in six districts of Urumqi City during August 2019. Results: For the 8153 preschool children with valid data, the parent-reported prevalence of eczema was 12.0%. Multivariate logistic regression analysis showed that cesarean section (odds ratio [OR] = 1.18, 95% confidence interval [CI]: 1.03–1.36), being an only child (OR = 1.36, 95% CI: 1.18–1.57), mold or moisture in the mother’s residence before pregnancy (OR = 1.53, 95% CI: 1.17–2.00), flies or mosquitoes in the dwelling currently (OR = 1.31, 95% CI: 1.10–1.55), pets kept in the child’s current residence (OR = 1.23, 95% CI: 1.01–1.51), presence of pets when the child is 0–1 year old (OR = 1.45, 95% CI: 1.14–1.85), and family history of eczema (OR = 3.53, 95% CI: 2.98–4.19) are risk factors, whereas ethnicity other than Han Chinese (OR = 0.77, 95% CI: 0.61–0.96) is a protective factor, for eczema. Conclusion: Preschool children in Urumqi are at a high risk of eczema, especially those of Han Chinese ethnicity. Parents should pay close attention to the indoor living environment of children and must reduce indoor humidity, pay attention to pest control and elimination, and avoid raising pets to reduce the risk of children developing eczema.

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