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

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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The Association between 5-Hydroxytryptamine Receptor 1B rs13212041 Polymorphism and Trait Anxiety in Chinese Han College Subjects

Life ◽

10.3390/life11090882 ◽

2021 ◽

Vol 11 (9) ◽

pp. 882

Author(s):

Xiaofei Ruan ◽

Suwen Fang ◽

Qi Zheng ◽

Senqing Qi ◽

Yingfang Tian ◽

...

Keyword(s):

Emotional Disorders ◽

Trait Anxiety ◽

Protective Factor ◽

Anxiety And Depression ◽

Personality Factor ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Single Nucleotide ◽

Development Of Anxiety ◽

Insight Into

Trait anxiety is a vulnerable personality factor for anxiety and depression. High levels of trait anxiety confer an elevated risk for the development of anxiety and other psychiatric disorders. There is evidence that 5-hydroxytryptamine receptor 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 traitanxious (LTA) individuals in Chinese Han college subjects. The results showed that the frequencies of the C-allele and TC + CC genotype of rs13212041 in the LTA individuals were 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 model analysis also showed that the C allele was a protective factor for trait anxiety in Chinese Han college subjects. These findings suggest that 5-HT1B rs13212014 may play a role in trait anxiety among 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 underlying trait anxiety.

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Association between AXIN1 Gene Polymorphisms and Bladder Cancer in Chinese Han Population

Disease Markers ◽

10.1155/2019/3949343 ◽

2019 ◽

Vol 2019 ◽

pp. 1-8 ◽

Cited By ~ 2

Author(s):

Qin Li ◽

Peng Zhang ◽

Yanyun Wang ◽

Yan Zhang ◽

Kai Li ◽

...

Keyword(s):

Bladder Cancer ◽

Gene Polymorphisms ◽

Protective Factor ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Potential Association ◽

Increased Risk ◽

Pcr Rflp ◽

Poor Differentiation ◽

Muscle Invasive

Background. Previous evidence has indicated that the reduction of axis inhibition protein 1 (AXIN1) expression is related with the poor differentiation of non-small-cell lung cancer (NSCLC). However, the potential association between AXIN1 and bladder cancer (BC) is unknown. We aimed to initially explore the relevance of AXIN1 gene polymorphisms (rs12921862 C/A, rs1805105 T/C, and rs370681 C/T) and BC. Methods. Three hundred and sixteen BC patients and 419 healthy controls had been enrolled. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping three tag single-nucleotide polymorphisms (SNPs) of AXIN1. The SNPstats online analysis software and SPSS software were used for statistical analysis. Results. Our data revealed that three tag SNPs were associated with an increased risk of BC (rs12921862: P<0.001, OR 95%CI=4.61 (3.13-6.81); rs1805105: P=0.046, OR 95%CI=1.35 (1.00-1.82); and rs370681: P=0.004, OR 95%CI=1.56 (1.15-2.10)). For rs12921862, A allele was an independently protective factor which correlated with a better prognosis in non-muscle-invasive bladder cancer (NMIBC) patients (P=0.03, OR 95%CI=0.10 (0.01-0.84)). Stratification analysis demonstrated that rs370681 polymorphism was related with high-grade bladder cancer (P=0.04, OR 95%CI=1.85 (1.04-3.23)). Conclusion. The AXIN1 gene polymorphisms might implicate in BC risk, and rs12921862 could be a potential forecasting factor for prognosis of BC patients.

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NOTCH4 Single-Nucleotide Polymorphism Is Associated With Brain Arteriovenous Malformation in a Chinese Han Population

10.21203/rs.3.rs-1101933/v1 ◽

2021 ◽

Author(s):

Jianbo Zhang ◽

Zhenjun Li ◽

Haiyan Fan ◽

Hengxian Su ◽

Hongliang Meng ◽

...

Keyword(s):

Arteriovenous Malformation ◽

Gene Polymorphisms ◽

Vascular Malformations ◽

Chinese Han Population ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Single Nucleotide ◽

Han Population ◽

Genotype Frequencies

Abstract Background: Brain arteriovenous malformations (BAVMs) are high-flow intracranial vascular malformations characterized by the direct connection of arteries to veins without an intervening capillary bed. It is one of the main causes of intracranial hemorrhage and epilepsy though morbidity is low. Angiogenesis, heredity, inflammation, and arteriovenous malformation syndromes play important roles in BAVM formation. Animal experiments and previous studies have confirmed that NOTCH4 may be associated with BAVM development. Our study identifies a connection between NOTCH4 gene polymorphisms and BAVM in a Chinese Han population.Methods: We enrolled 150 patients with BAVMs confirmed by digital subtraction angiography (DSA) in the Department of Neurosurgery, Zhujiang Hospital, Southern Medical University from June 2017 to July 2019. Simultaneously, 150 patients without cerebrovascular disease were confirmed by computed tomography angiography/magnetic resonance angiography/DSA. DNA was extracted from peripheral blood and NOTCH4 genotypes were identified by PCR-ligase detection reaction. Chi-square test or Fisher’s exact test was used to evaluate the difference in allele and genotype frequencies between the BAVM group, control group, bleeding, and other complications.Results: Two single-nucleotide polymorphisms (SNPs), rs443198 and rs438475, were significantly associated with BAVM. No SNP genotypes were significantly associated with hemorrhage and epilepsy. SNPs rs443198_ AA-SNP and rs438475_ AA-SNP may be associated with lower risk of BAVM (P = 0.011, OR = 0.459, 95% CI 0.250–0.845; P = 0.033, OR = 0.759, 95% CI 0.479–1.204).Conclusion: NOTCH4 gene polymorphisms were associated with BAVM and may be a risk factor in a Chinese Han population.

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Association of Plasma IL-32 Levels and Gene Polymorphisms with Systemic Lupus Erythematosus in Chinese Han Population

Disease Markers ◽

10.1155/2016/2460206 ◽

2016 ◽

Vol 2016 ◽

pp. 1-6 ◽

Cited By ~ 5

Author(s):

Yanyun Wang ◽

Bin Zhou ◽

Yi Zhao ◽

Xiuzhang Yu ◽

Yi Liu ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Lupus Erythematosus ◽

Gene Polymorphisms ◽

Healthy Controls ◽

Nucleotide Polymorphisms ◽

Systemic Lupus ◽

Chinese Han ◽

Single Nucleotide ◽

Published Report ◽

The Relationship

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease. IL-32, a secreted protein, has been reported to be associated with several autoimmune diseases. Our preliminary experiment showed different plasma IL-32 levels than that mentioned in a published report on the same population. In order to elucidate the correlation between IL-32 and SLE, we determined the plasma level and two single nucleotide polymorphisms (SNPs) of IL-32 in 152 patients with SLE and 310 healthy controls and analyzed the relationship based on the clinical parameters. The results showed that plasma IL-32 levels in patients with SLE were markedly lower than that in the healthy controls. In the SLE group, patients with detectable IL-32 presented low serum C3 concentrations. Further studies indicated that the rs28372698 SNP was associated with the susceptibility to SLE. Taken together, our results suggested that IL-32 could possibly be a candidate marker to monitor SLE disease stability and screening in future.

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Impact of COL6A4P2 gene polymorphisms on the risk of lung cancer in a Chinese Han population

10.21203/rs.2.21226/v1 ◽

2020 ◽

Author(s):

Ying Duan ◽

Gaowen Liu ◽

Fanglin Niu ◽

Jing Li ◽

Mengdan Yan ◽

...

Keyword(s):

Lung Cancer ◽

Odds Ratio ◽

Gene Polymorphisms ◽

Additive Model ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Single Nucleotide ◽

Han Population ◽

Codominant Model ◽

Insight Into

Abstract Background The aim of this study was to investigate the effects of COL6A4P2 polymorphisms on lung cancer (LC) in Chinese Han population.Methods To examine whether variants of COL6A4P2 contribute to LC, five single nucleotide polymorphisms (SNPs) of COL6A4P2 were genotyped by Agena MassARRAY in 510 LC patients and 495 controls. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated by logistic regression.Results We found that COL6A4P2 rs34445363 significantly increased the risk of LC in the alleles model (OR = 1.26, 95%CI: 1.01 - 1.58, p = 0.038). And rs34445363 also increased the LC risk under the log-additive model (OR = 1.26, 95%CI: 1.01 - 1.58, p = 0.041) with the multigene model analysis. Further stratification analysis showed that rs34445363 increased the LC risk under the log-additive model (OR = 1.42, 95%CI: 1.03 - 1.95, p = 0.033) in people aged ≤ 61; and rs61733464 was associated with a decreased LC risk in the log-additive model (OR = 0.72, 95%CI: 0.52 - 0.99, p = 0.048) in people aged ≤ 61. We also found that the mutations of rs34445363 and rs77941834 were associated with increased LC risk in the codominant model (rs34445363, GA vs. GG, OR = 1.73, 95%CI: 1.04 - 2.86, p = 0.034; rs77941834, TA vs. TT, OR = 1.88, 95%CI: 1.06 - 3.34, p = 0.032) in females.Conclusions This study provided an evidence for polymorphisms of COL6A4P2 gene associated to the development of LC, also a new insight into etiology of LC.

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Polymorphisms of TLR2, TLR4 and TOLLIP and tuberculosis in two independent studies

Bioscience Reports ◽

10.1042/bsr20193141 ◽

2020 ◽

Vol 40 (8) ◽

Cited By ~ 1

Author(s):

Shouquan Wu ◽

Xiangmin Liu ◽

Ling Chen ◽

Yu Wang ◽

Miaomiao Zhang ◽

...

Keyword(s):

Protective Factor ◽

Nucleotide Polymorphisms ◽

Toll Like Receptor ◽

Chinese Han ◽

Single Nucleotide ◽

Interacting Protein ◽

Han Population ◽

Tibetan Population ◽

Immunity Genes ◽

Toll Like Receptor 2

Abstract Genetic polymorphisms for tuberculosis (TB) susceptibility have been researched by some studies, but few have studied multiple innate immunity genes associated with TB. Evidence suggests that the toll-like receptor 2, 4 (TLR2, TLR4) and toll interacting protein (TOLLIP) may be associated with TB susceptibility. In this self-validated study, we explored the association between common single nucleotide polymorphisms (SNPs) of TLR2, TLR4 and TOLLIP in the Chinese Han and Tibetan populations. A SNPscan™ method was used to genotype SNPs in the three genes. Multiple logistic regression adjusted by sex and age was used to detect the association between SNPs and TB. In TLR2, rs1898830 was associated with decreased risk against TB in the Chinese Han population, which was validated in the Tibetan population. In TLR4, rs11536889 was a protective factor for TB in the Tibetan population, but not in the Han population. Additionally, in the Tibetan population, we also found that the frequency of genotypes of TOLLIP rs11536889 differs significantly between TB patients and controls. We found rs1898830 in TLR2 was associated with TB susceptibility in both Chinese Han and Tibetan populations while rs11536889 in TLR4 and rs3750920 in TOLLIP were protective factors against TB in the Tibetan population.

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The Association Between CTLA-4, CD80/86, and CD28 Gene Polymorphisms and Rheumatoid Arthritis: An Original Study and Meta-Analysis

Frontiers in Medicine ◽

10.3389/fmed.2021.598076 ◽

2021 ◽

Vol 8 ◽

Author(s):

Weixi Liu ◽

Zhicheng Yang ◽

Yan Chen ◽

Haoyu Yang ◽

Xiaoxian Wan ◽

...

Keyword(s):

Rheumatoid Arthritis ◽

Gene Polymorphism ◽

Gene Polymorphisms ◽

Meta Analysis ◽

Costimulatory Molecule ◽

Functional Class ◽

Chinese Han Population ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Han Population

Background: Rheumatoid arthritis (RA) is related to several pivotal susceptibility genes, including cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) and costimulatory molecule (CD80/CD86) genes. Although the connection between polymorphisms of CTLA-4 and CD86 genes in different populations of RA have been studied extensively, the results are controversial.Objective: To clarify the correlation in the Chinese Han population between CTLA-4, CD80/86, and CD28 gene polymorphisms, and RA susceptibility.Methods: A case-control study (574 RA patients and 804 controls) was conducted to determine the correlation between CTLA-4 rs231775 and rs16840252 gene polymorphisms, CD86 rs17281995 gene polymorphisms, and the risk of RA for the Chinese Han population. Furthermore, an additional meta-analysis, including three single nucleotide polymorphisms (SNPs) (CTLA-4 rs231775, CTLA-4 rs3087243, and CTLA-4 rs5742909) from 32 citations, including 43 studies, 24,703 cases and 23,825 controls was performed to elucidate the relationship between known SNPs in the CTLA-4 genes and RA for more robust conclusions.Results: The results showed that CTLA-4 rs231775 gene polymorphism decreased the RA risk (GA vs. AA, OR = 0.77, P = 0.025), whereas CTLA-4 rs16840252 and CD86 rs17281995 gene polymorphisms were not related to RA susceptibility. Stratification analyses by RF, ACPA, CRP, ESR, DAS28, and functional class identified significant associations for CTLA-4 rs231775 and rs16840252 gene polymorphisms in the RF-positive and RF-negative groups. A meta-analysis of the literature on CTLA-4 gene polymorphisms and RA risk revealed that the risk of RA was decreased by CTLA-4 rs231775 gene polymorphisms.Conclusions: The CTLA-4 rs231775 gene polymorphism decreased the risk of RA, whereas CTLA-4 rs16840252 and CD86 rs17281995 gene polymorphisms were not related to RA risk. A meta-analysis indicated that CTLA-4 rs231775 and rs3087243 gene polymorphisms decreased the risk of RA. To support these analytical results, additional clinical cases should be investigated in further studies.

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HTR2A gene polymorphisms and Inward and Outward Personal Meaning Organisations

Acta Neuropsychiatrica ◽

10.1111/j.1601-5215.2011.00644.x ◽

2012 ◽

Vol 24 (6) ◽

pp. 336-343 ◽

Cited By ~ 3

Author(s):

Bernardo Nardi ◽

Francesco Piva ◽

Chiara Turchi ◽

Matteo Giulietti ◽

Gianni Castellucci ◽

...

Keyword(s):

Gene Polymorphisms ◽

Serotonin Receptor ◽

Physical Distance ◽

Personal Meaning ◽

Nucleotide Polymorphisms ◽

Activation Patterns ◽

Environmental Signals ◽

Fmri Study ◽

Htr2a Gene

Nardi B, Piva F, Turchi C, Giulietti M, Castellucci G, Arimatea E, Rocchetti D, Rocchetti G, Principato G, Tagliabracci A, Bellantuono C. HTR2A gene polymorphisms and Inward and Outward Personal Meaning Organisations.Objective: Caregiver behaviours and emotional expressions may induce development of two basic categories of constructing identity and of regulating cognitive and emotional processes: an Inward or an Outward Personal Meaning Organisation (PMO). Inwards read environmental signals through their internal activations. Their emotions are more distinct, and reciprocity is more based on physical distance (protection, loneliness). Outwards read internal activations through the environment. Their emotions are more blurred, and reciprocity is more based on a semantic sight of relations (approval, rules).It has recently been shown that PMO development may also have physiological and genetic bases. In a functional magnetic resonance imaging (fMRI) study, Inward and Outward subjects showed different amygdala activation patterns and an association with the SLC6A4 serotonin transporter gene 5-HTTLPR polymorphism.Methods: In this work, 149 healthy subjects were examined with respect to Inward and Outward PMOs. We explored the association with 10 serotonin receptor 2A (HTR2A) gene single nucleotide polymorphisms (SNPs) selected by bioinformatics methods.Results: An intronic SNP (rs55948462) was found to be significantly associated with an Inward and an Outward PMOs development. However, after statistical adjustments, these results did not remain significant.Conclusion: We did not find associations between considered SNPs and Inward/Outward PMOs. However, the role of HTR2A polymorphisms was not considered in this study and that of the other serotonin-related genes should be valued.

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

Acta Neuropsychiatrica ◽

10.1111/j.1601-5215.2008.00282.x ◽

2008 ◽

Vol 20 (3) ◽

pp. 139-144 ◽

Cited By ~ 11

Author(s):

Mei Shi ◽

Jian Hu ◽

Xuesong Dong ◽

Yue Gao ◽

Ganghui An ◽

...

Keyword(s):

Diurnal Variation ◽

Gene Polymorphisms ◽

Serotonin Receptor ◽

Protective Factor ◽

Tryptophan Hydroxylase ◽

Unipolar Depression ◽

Han Chinese ◽

Healthy Controls ◽

Significant Difference ◽

And Control

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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The haplotypes of various TNF related genes associated with scleritis in Chinese Han

Human Genomics ◽

10.1186/s40246-020-00296-y ◽

2020 ◽

Vol 14 (1) ◽

Author(s):

Yingnan Gao ◽

Liping Du ◽

Fuzhen Li ◽

Jiadong Ding ◽

Geng Li ◽

...

Keyword(s):

Protective Factor ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Single Nucleotide ◽

Immune Mediated ◽

Individual Snps ◽

Tnf Α ◽

Infectious Scleritis ◽

The Individual ◽

Normal Controls

Abstract Background Several studies have stated that TNF-α participates in the pathogenesis of scleritis, but also in several systemic autoimmune diseases and vasculitis, of which some are associated with scleritis. Earlier GWAS and SNP studies have confirmed that multiple SNPs of TNF related genes are associated with many immune-mediated disorders. The purpose of this study was to examine the association of TNF related gene polymorphisms with scleritis in Chinese Han. A case-control study was carried out in 556 non-infectious scleritis cases and 742 normal controls. A total of 28 single-nucleotide polymorphisms (SNPs) were genotyped by the iPLEXGold genotyping assay. Results No significant correlations were seen between the individual SNPs in the TNF related genes and scleritis. Haplotype analysis showed a significantly decreased frequency of a TNFAIP3 TGT haplotype (order of SNPs: rs9494885, rs3799491, rs2230926) (Pc = 0.021, OR = 0.717, 95% CI = 0.563–0.913) and a significantly increased frequency of a TNFSF4 GT haplotype (order of SNPs: rs3850641, rs704840) (Pc = 0.004, OR = 1.691, 95% CI = 1.205–2.372) and TNFSF15 CCC haplotype (order of SNPs: rs6478106, rs3810936, rs7865494) (Pc = 0.012, OR = 1.662, 95% CI = 1.168–2.363) in patients with scleritis as compared with healthy volunteers. Conclusions This study reveals that a TGT haplotype in TNFAIP3 may be a protective factor for the development of scleritis and that a GT haplotype in TNFSF4 and a CCC haplotype in TNFSF15 may be risk factors for scleritis in Chinese Han.

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