scholarly journals CARD8 rs2043211 Polymorphism is Associated with Gout in a Chinese Male Population

2015 ◽  
Vol 35 (4) ◽  
pp. 1394-1400 ◽  
Author(s):  
Ying Chen ◽  
Xianfeng Ren ◽  
Changgui Li ◽  
Shichao Xing ◽  
Zhengju Fu ◽  
...  
Keyword(s):  
Renal Calculus ◽  
Genotype Distribution ◽  
Male Population ◽  
Chinese Han ◽  
Increased Risk ◽  
Phenotype Analysis ◽  
Obvious Association ◽  
Male Patients ◽  
Chinese Male ◽  
Control Study

Background &Aim: Previous studies have suggested genetic factors are involved in the development of gout. We performed a case-control study to investigate the genetic association between CARD8 rs2043211 polymorphism and gout. Methods: A total of 396 male patients with gout and 403 age- and sex- matched healthy controls were included in this study. Genotyping was performed using TaqMan SNP Genotyping Assays. An association analysis was carried out using the χ2 test. The genotype-phenotype analysis was also conducted. Results: The genotype distribution of CARD8 rs2043211 polymorphism confirmed to HWE in the controls (P = 0.27). There was an obvious difference in the genotype distribution of CARD8 rs2043211 polymorphism between cases and controls (P = 0.017). In addition, there was an obvious association between CARD8 rs2043211 polymorphism and gout under the recessive comparison model (AA vs. TT/TA: OR = 0.65, 95%CI 0.47-0.88, P = 0.006). Patients carrying genotype TT of CARD8 rs2043211 polymorphism had higher triglycerides levels compared to those carrying the AA genotype (2.77±2.08 mmol/L vs. 2.07±1.15 mmol/L, P = 0.01). Patients with the TT genotype also had significantly higher systolic blood pressure compared with those with the AA genotype (142.11±21.10 mmHg vs. 135.38±14.66 mmHg, P = 0.03). Patients carrying TT genotype also had an increased risk of renal calculus compared with those carrying the AA genotype. Conclusion: CARD8 rs2043211 polymorphism is significantly associated with susceptibility to gout in Chinese Han males.

scholarly journals Association of the CACNA2D2 gene with schizophrenia in Chinese Han population

PeerJ ◽  
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.

scholarly journals Cyclin D1 G870A Variant is Associated with Increased Risk of Microsatellite Instability-Positive Colorectal Cancer in Young Male Patients

2007 ◽  
Vol 10 (2) ◽  
pp. 29-36
Author(s):  
T Josifovski ◽  
N Matevska ◽  
M Hiljadnikova-Bajro ◽  
Z Sterjev ◽  
A Kapedanovska ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
Cyclin D1 ◽  
Regulatory Protein ◽  
Significant Risk ◽  
Young Male ◽  
Genotype Distribution ◽  
Increased Risk ◽  
Significant Difference ◽  
Male Patients

Cyclin D1 G870A Variant is Associated with Increased Risk of Microsatellite Instability-Positive Colorectal Cancer in Young Male PatientsCyclin D1 (CCND1) is a cell cycle regulatory protein, which is often over expressed in human tumors and is associated with cell proliferation and poor prognosis. A common G870A single nucleotide polymorphism at codon 242 in exon 4 of the CCND1 gene is associated with an altered messenger RNA transcript and increased risk of colorectal cancer (CRC) and adenoma in some studies. Over expression of CCND1 modifies the effect of mutations in mismatch repair (MMR) genes, enhances microsatellite instability (MSI), and influences the age ofonset of hereditary non polyposis colorectal cancer (HNPCC). We have extended our study that indicated that the CCND1 A variant may influence the age of onset of CRC in the Macedonian population only in patients who exhibit MSI tumors by a case control study of 331 randomly selected CRC patients and 101 controls without clinical diagnosis of CRC. We did not observe a significant difference in overall allelic frequencies and genotype distribution of affected and unaffected mutation carriers, but found a statistically significant risk of CRC in carriers of the CCND1 A allele when patients were grouped according to gender, age and MSI status. A higher risk was observed in patients with MSI-positive tumors and particularly in male patients under 60 years of age. The consequences of the above observation were reversed in female patients. These results indicate that the CCND1 A variant may enhance CRC progression through a pathway influenced by estrogens in colonic epithelia.

Severe Periodontitis Is Associated with Myocardial Infarction in Females

2018 ◽  
Vol 97 (10) ◽  
pp. 1114-1121 ◽  
Author(s):  
E. Nordendahl ◽  
A. Gustafsson ◽  
A. Norhammar ◽  
P. Näsman ◽  
L. Rydén ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Cardiovascular Risk ◽  
Alveolar Bone ◽  
Dental Health ◽  
Diabetes Education ◽  
Female Patients ◽  
Increased Risk ◽  
Severe Periodontitis ◽  
Male Patients ◽  
Control Study

The aim of the present study was to test the hypothesis that there is a sex difference in the association between periodontitis (PD) and a first myocardial infarction (MI). The analysis in the case-control study was based on 785 patients (147 females and 638 males) with a first MI and 792 matched controls (147 females and 645 males), screened for cardiovascular risk factors and subjected to a panoramic dental X-ray. Periodontal status was defined by alveolar bone loss and diagnosed as no PD (≥80% remaining alveolar bone), mild to moderate PD (66% to 79%), or severe PD (<66%). Logistic regression was used when analyzing PD as a risk factor for MI, adjusting for age, smoking, diabetes, education, and marital status. The mean age was 64 ± 7 y for females and 62 ± 8 y for males. Severe PD was more common in female patients than female controls (14 vs. 4%, P = 0.005), with an increased risk for severe PD among female patients with a first MI (odds ratio [OR] = 3.92, 95% confidence interval [CI] =1.53 to 10.00, P = 0.005), which remained (OR = 3.72, 95% CI = 1.24 to 11.16, P = 0.005) after adjustments. Male patients had more severe PD (7% vs. 4%; P = 0.005) than male controls and an increased risk for severe PD (OR = 1.88, 95% CI = 1.14 to 3.11, P = 0.005), but this association did not remain following adjustment (OR = 1.67, 95% CI = 0.97 to 2.84, NS). Severe PD was associated with MI in both females and males. After adjustments for relevant confounders, this association did, however, remain only in females. These data underline the importance of considering poor dental health when evaluating cardiovascular risk, especially in females.

Angiopoietin-2 promoter haplotypes confer an increased risk of stroke in a Chinese Han population

2009 ◽  
Vol 117 (11) ◽  
pp. 387-395 ◽  
Author(s):  
Jingzhou Chen ◽  
Hui Yu ◽  
Weihua Song ◽  
Kai Sun ◽  
Yan Song ◽  
...  
Keyword(s):  
Transcriptional Activity ◽  
Case Control Study ◽  
Haemorrhagic Stroke ◽  
Chinese Han ◽  
Gene Encoding ◽  
Important Mediator ◽  
Increased Risk ◽  
Angiopoietin 2 ◽  
Promoter Haplotypes ◽  
Control Study

Angiopoietin-2 is an important mediator of angiogenesis, and we hypothesized that genetic variants of ANGPT2 (the gene encoding angiopoietin-2) would result in abnormal angiogenesis and contribute to stroke susceptibility. To test our hypothesis, we investigated the association of variants in the promoter of ANGPT2 with stroke in a multi-centre case-control study. We found that the C allele of rs3739390 conferred a 1.42-fold risk of lacunar infarction {adjusted OR (odds ratio), 1.42 [95% CI (confidence interval), 1.08–1.87]; P=0.012} and a 2.10-fold higher transcriptional activity than did the corresponding G allele rs3739390G. The haplotype G-G-T conferred a 1.54-fold risk of atherothrombotic stroke and a 1.64-fold risk for haemorrhagic stroke, whereas the haplotype G-C-C conferred approx. a 2.0-fold risk of each subtype of stroke. In conclusion, our results indicate that haplotypes in the promoter of ANGPT2 confer a high risk of stroke in a Chinese population.

scholarly journals The Association between Polymorphism of CARD8 rs2043211 and Susceptibility to Arteriosclerosis Obliterans in Chinese Han Male Population

2017 ◽  
Vol 41 (1) ◽  
pp. 173-180 ◽  
Author(s):  
Kun Zhang ◽  
Wei Song ◽  
Dalin Li ◽  
Jingqiang Yan ◽  
Yunhui Chen ◽  
...  
Keyword(s):  
Blood Glucose ◽  
Low Density Lipoprotein ◽  
Fasting Blood Glucose ◽  
Density Lipoprotein ◽  
Primary Objective ◽  
Control Group ◽  
Genotype Distribution ◽  
Male Population ◽  
Chinese Han ◽  
Arteriosclerosis Obliterans

Background and aims: Cholesterol crystals have been shown to cause inflammation. As a response to cholesterol crystal accumulation, the NLRP3 inflammasome is activated to produce IL-1β which eventually leads to atherosclerotic lesions. As a part of innate immunity, CARD8 is involved in the modulation of above mentioned inflammatory activities. The primary objective of this study was to investigate the association between polymorphism of CARD8 rs2043211 and susceptibility to arteriosclerosis obliterans (ASO) in Chinese Han male population. Methods: 758 male arteriosclerosis obliterans patients and 793 male controls were genotyped for rs2043211 with the TaqMan allele assays. Fasting blood-glucose (FBG), total cholesterol (TC), triglycerides (TG), urea nitrogen, creatinine, Serum uric acid, high density lipoprotein, low density lipoprotein, ALT, AST, and IL-1β in the blood were detected for all subjects. Clinical data were recorded to analyze the genotype-phenotype. Independent samples t-test was used to perform the comparisons between two groups. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to measure the strength of relationship in the genotype distribution and allele frequencies between patients and controls. The analysis of variance was used for a genotype-phenotype analysis of the ASO patients. Results: The genotypic and allelic frequencies in the ASO group were significantly different from that in the control group (P = 0.014 by genotype, P = 0.003 by allele). Those carrying the genotype TT had a higher risk for ASO than those carrying the genotype AA (OR = 1.494, 95%CI1.131-1.974, P = 0.005).The difference was also significant after the adjustment for the history of smoking, TC, LDL, fasting blood glucose, systolic blood pressure and BMI(OR = 1.525, 95%CI1.158-2.009, P = 0.003). Conclusion: Our finding suggests that the polymorphism of CARD8 rs2043211 is probably associated with the development of ASO in Chinese Han male population.

scholarly journals IL-6 gene rs12700386 Polymorphism is Associated with Increased Risk of Knee Osteoarthritis Development in Chinese Han Population: A Case-Control Study

2020 ◽  
Author(s):  
Hui Yang ◽  
Xindie Zhou ◽  
Dongmei Xu ◽  
Gang Chen
Keyword(s):  
Knee Osteoarthritis ◽  
Case Control Study ◽  
Case Control ◽  
Chinese Han ◽  
Knee Oa ◽  
Reverse Transcription Pcr ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Control Study

Abstract Background: There is an association between Interleukin-6 (IL-6) polymorphism and knee osteoarthritis (OA) risk. The case-control study aims at exploring how IL-6 rs12700386 polymorphism affects the knee OA risk in Chinese Han individuals.Methods: We extracted the DNA from 763 participants, thereinto, 352 were OA patients and 411 were healthy controls. The polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assisted in genotyping the IL-6 gene polymorphism. The relative expression exhibited by IL-6 in blood samples of knee OA patients was determined via a quantitative reverse transcription PCR (qRT-PCR). Results: We found that IL-6 rs12700386 enhanced the knee OA susceptibility. Based on a subgroup analysis, the loci magnified the knee OA risk in smokers, drinkers, and subjects ≥ 55 years old or with BMI ≥ 25 kg/m2. The combination of smoking and drinking and rs12700386 genotype led to an increase in the knee OA risk, indicating an underlying interaction between gene and environment. Additionally, the rs12700386 was found to be related to increased IL-6 gene levels. Conclusion: These data indicate that rs12700386 polymorphism of IL-6 gene led to an increase in the knee OA risk specific to Chinese Han individuals.

scholarly journals C-reactive protein gene 1846C>T polymorphism is associated with increased risk and clinical features of lung cancer: a case–control study

2019 ◽  
Vol 39 (6) ◽  
Author(s):  
Chen Chen ◽  
Jing-Ni Liu ◽  
Jian-Qiang Zhao ◽  
Bao Zang
Keyword(s):  
Lung Cancer ◽  
Case Control Study ◽  
Case Control ◽  
Lung Carcinogenesis ◽  
C Reactive Protein ◽  
Chinese Han ◽  
Reactive Protein ◽  
Potential Marker ◽  
Increased Risk ◽  
Control Study

AbstractChronic inflammation plays an important role in lung carcinogenesis. Recently, several studies investigated the association of C-reactive protein (CRP) gene 1846C>T polymorphism and lung cancer (LC) risk, but with conflicting findings. In the present study, we conducted this case–control study with 408 LC patients and 472 healthy controls in a Chinese Han population. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLR) method. Our data found that CRP gene 1846C>T polymorphism increased the risk of LC. Subgroup analyses obtained significant associations among the groups of males, ≥50 years old, smoking, and non-drinkers. Bioinformatics analysis showed that the expression levels of CRP in LC tissues were significantly increased compared with normal tissues. Additionally, the present study found CRP mRNA high expression was associated with worse survival in LC patients. Furthermore, our data indicated that TT genotype of 1846C>T polymorphism was associated with a larger size of tumor and was related with lymphatic metastasis in LC patients. In conclusion, the present study suggests that CRP gene 1846C>T polymorphism is associated with increased risk of LC. CRP gene 1846C>T polymorphism may be a potential marker for the diagnosis of LC.

Association Between MMP-9 -1562 C/T Polymorphism and the Risk of Sepsis in a Chinese Population: A Case-control Study

2020 ◽  
Author(s):  
Cuijuan Zheng ◽  
Jiayu Wang ◽  
Shouxiang Xie
Keyword(s):  
Case Control Study ◽  
Case Control ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk ◽  
Sepsis Risk ◽  
The Relationship ◽  
Metalloproteinase 9 ◽  
Control Study

Abstract Background: Matrix metalloproteinase-9 (MMP-9) plays an important role in the development of sepsis. In order to explore the relationship between MMP-9 -1562 C/T polymorphism and sepsis risk in Chinese Han population, we conducted a case-control study with a sample size of 312 sepsis patients and 413 controls.Methods: The ABI PRISM SNaPshot method (Applied Biosystems, Carlsbad, CA, USA) was performed to genotype the MMP-9 -1562 C/T polymorphism.Results: Our data indicated that MMP-9 -1562 C/T polymorphism was associated with an increased risk of sepsis (CT vs. CC: P = 0.032, OR=1.45, 95%CI =1.03-2.05; TT + CT vs. CC: P = 0.019, OR =1.49, 95%CI = 1.07-2.07). Stratified analyses demonstrated that this increased risk was more evident in smokers, drinkers, females, and overweight individuals (BMI ≥ 25). In addition, cross-over analyses suggested that the combination of smoking and CT genotype of MMP-9 -1562 C/T polymorphism contributed to a higher risk for sepsis.Conclusion: In conclusion, MMP-9 -1562 C/T polymorphism is associated with an increased risk of sepsis in Chinese Han population. MMP-9 -1562 C/T polymorphism may serve as a diagnostic marker for sepsis patients.

scholarly journals Dysmenorrhea increased the risk of postpartum depression in Chinese Han parturients

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Liping Meng ◽  
Jianmei Li ◽  
Yuli Cheng ◽  
Tingting Wei ◽  
Yukai Du ◽  
...  
Keyword(s):  
Postpartum Depression ◽  
Chinese Women ◽  
Univariate Analysis ◽  
Depression Scale ◽  
Chinese Han ◽  
Logistic Regression Models ◽  
Increased Risk ◽  
History Of ◽  
Adjusted Model ◽  
Control Study

Abstract Several studies have shown that dysmenorrhea increased the risk of depression. However, the association between dysmenorrhea and postpartum depression (PPD) is unclear. The purpose of this study is to evaluate the effects of dysmenorrhea on the development of PPD among Chinese women. A case-control study was performed on parturients who delivered from January 1, 2016, to December 31, 2016, at Bao an Maternal and Child Health Hospital in Shenzhen, China. The Edinburgh Postnatal Depression Scale (EPDS) was used to screen for maternal postpartum depression. Logistic regression models were used to examine the association between dysmenorrhea and the risk of PPD. A total of 360 women including 120 cases and 240 controls were enrolled. Our study showed that parturients with PPD had a higher percentage of dysmenorrhea than women without PPD (64.2% vs 47.9%, P = 0.004). In univariate analysis, we observed that dysmenorrhea increased the risk for PPD (OR = 1.95; 95% CI: 1.24–3.06; P = 0.004). In the fully adjusted model, dysmenorrhea was still significantly associated with an increased risk of PPD (OR = 2.45; 95% CI: 1.36–4.54; P = 0.003). Our data confirmed that dysmenorrhea may be a risk factor for PPD. Therefore, screening for postpartum depression should be considered in parturients with a history of dysmenorrhea.

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