scholarly journals Candidate Gene Polymorphisms Influence the Susceptibility to Salt Sensitivity of Blood Pressure in a Han Chinese Population: Risk Factors as Mediators

2021 ◽  
Vol 12 ◽  
Author(s):  
Yunyi Xie ◽  
Zheng Liu ◽  
Kuo Liu ◽  
Han Qi ◽  
Wenjuan Peng ◽  
...  
Keyword(s):  
Risk Factors ◽  
Blood Pressure ◽  
Mediation Analysis ◽  
Chinese Population ◽  
Salt Sensitivity ◽  
Han Chinese ◽  
Candidate Snps ◽  
Genome Wide Association Studies ◽  
Bonferroni Correction ◽  
Han Chinese Population

Genome-wide association studies suggest that there is a significant genetic susceptibility to salt sensitivity of blood pressure (SSBP), but it still needs to be verified in varied and large sample populations. We attempted to verify the associations between single-nucleotide polymorphisms (SNPs) in candidate genes and SSBP and to estimate their interaction with potential risk factors. A total of 29 candidate SNPs were genotyped in the 2,057 northern Han Chinese population from the Systems Epidemiology Study on Salt Sensitivity. A modified Sullivan’s acute oral saline load and diuresis shrinkage test (MSAOSL-DST) was used to identify SSBP. A generalized linear model was conducted to analyze the association between SNPs and SSBP, and Bonferroni correction was used for multiple testing. Mediation analysis was utilized to explore the mediation effect of risk factors. Eleven SNPs in eight genes (PRKG1, CYBA, BCAT1, SLC8A1, AGTR1, SELE, CYP4A11, and VSNL1) were identified to be significantly associated with one or more SSBP phenotypes (P < 0.05). Four SNPs (PRKG1/rs1904694 and rs7897633, CYP4A11/rs1126742, and CYBA/rs4673) were still significantly associated after Bonferroni correction (P < 0.0007) adjusted for age, sex, fasting blood glucose, total cholesterol, salt-eating habit, physical activity, and hypertension. Stratified analysis showed that CYBA/rs4673 was significantly associated with SSBP in hypertensive subjects (P < 0.0015) and CYP4A11/rs1126742 was significantly associated with SSBP in normotensive subjects (P < 0.0015). Subjects carrying both CYBA/rs4673-AA and AGTR1/rs2638360-GG alleles have a higher genetic predisposition to salt sensitivity due to the potential gene co-expression interaction. Expression quantitative trait loci analysis (eQTL) suggested that the above positive four SNPs showed cis-eQTL effects on the gene expression levels. Mediation analysis suggested that several risk factors were mediators of the relation between SNP and SSBP. This study suggests that the genetic variants in eight genes might contribute to the susceptibility to SSBP, and other risk factors may be the mediators.

scholarly journals Risk Factors for Gastric Cancer-Associated Thrombotic Diseases in a Han Chinese Population

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Bo Song ◽  
Yamei Wang ◽  
Xiuzhi Zhu ◽  
Li Zhang ◽  
Hui Zhou ◽  
...  
Keyword(s):  
Risk Factors ◽  
Gastric Cancer ◽  
Chinese Population ◽  
Han Chinese ◽  
Preventive Strategy ◽  
Diabetes Surgery ◽  
Han Chinese Population ◽  
Related Data ◽  
Significant Difference ◽  
Thrombotic Diseases

The aim of the present work was to investigate the risk factors for gastric cancer- (GC-) associated thrombotic diseases in a Han Chinese population. A total of 333 patients diagnosed with GC, 68 with thrombotic diseases included in the case group and the remaining 265 in the control group, were enrolled. The relevant data for the participants, including general information (gender, age, smoking, and drinking), comorbidities (diabetes, hypertension, and anemia), tumor-related data (tumor site, histology, degree of differentiation, and clinical stage), and treatment-related data (surgery, chemotherapy, hormones, transfusion, and peripherally inserted central venous catheter (PICC)), were collected. Statistically significant factors derived from univariate analyses were then subjected to multivariate logistic regression analyses. The results demonstrate a statistically significant difference in age, diabetes, hypertension, histology, surgery, chemotherapy, and PICC ( P < 0.05 ), compared with control. Age, diabetes, surgery, and PICC serve as independent risk factors for GC-associated thrombotic diseases ( P < 0.05 ). The present work demonstrates that GC-associated thrombotic diseases are significantly associated with age, diabetes, surgery, and PICC, suggesting a potential target for early detection and preventive strategy for GC patients with thrombophilia.

scholarly journals Role played by the SP4 gene in schizophrenia and major depressive disorder in the Han Chinese population

2016 ◽  
Vol 208 (5) ◽  
pp. 441-445 ◽  
Author(s):  
Jianhua Chen ◽  
Kuanjun He ◽  
Qingzhong Wang ◽  
Zhiqiang Li ◽  
Jiawei Shen ◽  
...  
Keyword(s):  
Major Depressive Disorder ◽  
Depressive Disorder ◽  
Chinese Population ◽  
Han Chinese ◽  
Nucleotide Polymorphisms ◽  
Bonferroni Correction ◽  
Case Control Studies ◽  
Major Depressive ◽  
Han Chinese Population ◽  
Common Risk Factors

BackgroundPsychiatric disorders such as schizophrenia and major depressive disorder (MDD) are likely to be caused by multiple susceptibility genes, each with small effects in increasing the risk of illness. Identifying DNA variants associated with schizophrenia and MDD is a crucial step in understanding the pathophysiology of these disorders.AimsTo investigate whether the SP4 gene plays a significant role in schizophrenia or MDD in the Han Chinese population.MethodWe focused on nine single nucleotide polymorphisms (SNPs) harbouring the SP4 gene and carried out case–control studies in 1235 patients with schizophrenia, 1045 patients with MDD and 1235 healthy controls recruited from the Han Chinese population.ResultsWe found that rs40245 was significantly associated with schizophrenia in both allele and genotype distributions (Pallele = 0.0005, Pallele = 0.004 after Bonferroni correction; Pgenotype = 0.0023, Pgenotype = 0.0184 after Bonferroni correction). The rs6461563 SNP was significantly associated with schizophrenia in the allele distributions (Pallele = 0.0033, Pallele = 0.0264 after Bonferroni correction).ConclusionsOur results suggest that common risk factors in the SP4 gene are associated with schizophrenia, although not with MDD, in the Han Chinese population.

Relationship between SNP rs1764391 and Susceptibility, Risk Factors, Gene-environment Interactions of Acute Myocardial Infarction in Guangxi Han Chinese Population

2020 ◽  
Vol 21 (1) ◽  
pp. 79-88
Author(s):  
Jun Li ◽  
Rui Qin ◽  
Wei Wang ◽  
Zhou Huang ◽  
Dong-Ling Huang ◽  
...  
Keyword(s):  
Risk Factors ◽  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Chinese Population ◽  
Han Chinese ◽  
Control Groups ◽  
Han Chinese Population ◽  
Gene Environment ◽  
Potential Biomarker ◽  
And Control

Background: Large-scale population studies showed that the SNP rs1764391 of Connexin37 gene also known as Cx37 gene may play a pivotal role in the occurrence and development of acute myocardial infarction (AMI). Published results, however, are highly controversial. Objective: This study aimed to examine the association between SNP rs1764391 of Cx37 and diseasesusceptibility, several risk factors, and gene-environment interactions of AMI in Guangxi Han Chinese population. Methods: In this study, 344 healthy controls and 344 AMI patients of Han Chinese population were enrolled. The TaqMan assay was implemented to identify genotypes of Cx37 and allele frequencies of SNP rs1764391 in both the AMI and control groups. Results: Significant differences were detected in TT genotype frequencies of SNP rs1764391 between the AMI and control groups (P < 0.05). In the context of gender stratification, the result was also statistically different in women (P < 0.05). Each variable such as age, BMI, diabetes, high blood pressure, smoking and TC was a risk factor and correlated significantly (P < 0.05) with the development of AMI. HDL-C correlated negatively with the risk of AMI (P < 0.001). BMI, smoking or alcohol consumed interacts significantly (P < 0.017) with the presence of the SNP rs1764391 CC genotype. Conclusions: Evidences were presented that Cx37 rs1764391 variation may contribute to the risk for AMI, especially in women and this genetic variant may prove to be a potential biomarker for AMI risk stratification and may prove to be a useful target for therapeutic intervention to further improve prognosis in high-risk patients.

Association ofNKAPL,TSPAN18, andMPC2gene variants with schizophrenia based on new data and a meta-analysis in Han Chinese

2016 ◽  
Vol 29 (2) ◽  
pp. 87-94 ◽  
Author(s):  
Zhen Li ◽  
Tingting Shen ◽  
Ran Xin ◽  
Baoyun Liang ◽  
Juan Jiang ◽  
...  
Keyword(s):  
Chinese Population ◽  
Association Studies ◽  
Meta Analysis ◽  
Han Chinese ◽  
Genome Wide Association Studies ◽  
Han Chinese Population ◽  
Genotype Frequencies ◽  
Genome Wide ◽  
Significant Difference ◽  
High Heritability

BackgroundSchizophrenia (SZ) is suggested to be a complex polygenetic disorder with high heritability. Genome-wide association studies have found that the rs1635, rs11038167, and rs10489202 polymorphisms are associated with SZ in Han Chinese. However, results of validation studies are inconsistent. This study aimed to test the association between theNKAPLrs1635,TSPAN18rs11038167, andMPC2rs10489202 polymorphisms and SZ in a Chinese population.MethodsThis study contained 700 unrelated SZ patients (300 Zhuang and 400 Han) and 700 gender- and age-matched controls (300 Zhuang and 400 Han). The polymorphisms inTSPAN18(rs11038167),NKAPL(rs1635), andMPC2(rs10489202) were genotyped using the Sequenom MassARRAY method. Statistical analyses were performed with PLINK program and SPSS l6.0 for Windows. STATA11.1 was used for meta-analysis.ResultsNo statistically significant difference was found in different allele and genotype frequencies of rs1635, rs11038167, and rs10489202 between SZ cases and controls of Zhuang and Han ethnicities and the total samples (allp>0.05). Further meta-analysis suggested that single-nucleotide polymorphism rs10489202 was significantly associated with SZ in a Han Chinese population (pOR=0.002).ConclusionsOur case–control study failed to validate the significant association ofNKAPLrs1635,TSPAN18rs11038167, andMPC2rs10489202 polymorphisms with SZ susceptibility in the southern Zhuang or Han Chinese population. However, meta-analysis showed a significant association betweenMPC2variant rs10489202 and SZ susceptibility in Han Chinese.

scholarly journals Gender-Specific Association ofATP2B1Variants with Susceptibility to Essential Hypertension in the Han Chinese Population

2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Jin Xu ◽  
Hai-xia Qian ◽  
Su-pei Hu ◽  
Li-ya Liu ◽  
Mi Zhou ◽  
...  
Keyword(s):  
Essential Hypertension ◽  
Chinese Population ◽  
Propensity Score Analysis ◽  
Association Studies ◽  
Han Chinese ◽  
Minor Effect ◽  
Strong Linkage Disequilibrium ◽  
Genome Wide Association Studies ◽  
Han Chinese Population ◽  
Genome Wide

Previous genome-wide association studies (GWASs) found that severalATP2B1variants are associated with essential hypertension (EHT). But the “genome-wide significant”ATP2B1SNPs (rs2681472, rs2681492, rs17249754, and rs1105378) are in strong linkage disequilibrium (LD) and are located in the same LD block in Chinese populations. We asked whether there are other SNPs within theATP2B1gene associated with susceptibility to EHT in the Han Chinese population. Therefore, we performed a case-control study to investigate the association of seven tagSNPs within theATP2B1gene and EHT in the Han Chinese population, and we then analyzed the interaction among different SNPs and nongenetic risk factors for EHT. A total of 902 essential hypertensive cases and 902 normotensive controls were involved in the study. All 7 tagSNPs within theATP2B1gene were retrieved from HapMap, and genotyping was performed using the Tm-shift genotyping method. Chi-squared test, logistic regression, and propensity score analysis showed that rs17249754 was associated with EHT, particularly in females. The MDR analysis demonstrated that the interaction of rs2070759, rs17249754, TC, TG, and BMI increased the susceptibility to hypertension. Crossover analysis and stratified analysis indicated that BMI has a major effect on the development of hypertension, whileATP2B1variants have a minor effect.

scholarly journals Identifying genetic variants for age of migraine onset in a Han Chinese population in Taiwan

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Chia-Kuang Tsai ◽  
Chih-Sung Liang ◽  
Guan-Yu Lin ◽  
Chia-Lin Tsai ◽  
Jiunn-Tay Lee ◽  
...  
Keyword(s):  
Chinese Population ◽  
Association Studies ◽  
Asian Population ◽  
Susceptibility Genes ◽  
Han Chinese ◽  
Genome Wide Association Studies ◽  
Susceptibility Loci ◽  
Significance Level ◽  
Han Chinese Population ◽  
Migraine Pathogenesis

Abstract Background Considering the involvement of genetics in migraine pathogenesis in diverse ethnic populations, genome-wide association studies (GWAS) are being conducted to identify migraine-susceptibility genes. However, limited surveys have focused on the onset age of migraine (AoM) in Asians. Therefore, in this study, we aimed to identify the susceptibility loci of migraine considering the AoM in an Asian population. Methods We conducted a GWAS in 715 patients with migraine of Han Chinese ethnicity, residing in Taiwan, to identify the susceptibility genes associated with AoM. Based on our standard demographic questionnaire, the population was grouped into different subsets. Single-nucleotide polymorphism (SNP) associations were examined using PLINK in different AoM onset groups. Results We discovered eight novel susceptibility loci correlated with AoM that reached the GWAS significance level in the Han Chinese population. First, rs146094041 in ESRRG was associated with AoM $$\le$$ ≤ 12 years. The other SNPs including rs77630941 in CUX1, rs146778855 in CDH18, rs117608715 in NOL3, rs150592309 in PRAP1, and rs181024055 in NRAP were associated with the later AoM. Conclusions To our knowledge, this is the first GWAS to investigate the AoM in an Asian Han Chinese population. Our newly discovered susceptibility genes may have prospective associations with migraine pathogenesis.

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