scholarly journals Gene-Gene Interactions in Renin-Angiotensin-Aldosterone System Contributes to End-Stage Renal Disease Susceptibility in a Han Chinese Population

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Sui-Lung Su ◽  
Hsin-Yi Yang ◽  
Chia-Chao Wu ◽  
Herng-Sheng Lee ◽  
Yuh-Feng Lin ◽  
...  
Keyword(s):  
Gene Interaction ◽  
Han Chinese ◽  
Simultaneous Occurrence ◽  
Gene Interactions ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Testing Accuracy ◽  
Stage Renal Disease ◽  
End Stage ◽  
Control Study

Objective. In this study, we investigated whether RAAS gene single nucleotide polymorphisms (SNPs) and their interactions were associated with end-stage renal stage (ESRD).Methodology and Results. This was a case-control study for 647 ESRD cases and 644 controls. AGT (M235T (rs699) and T174M (rs4762)), AGTR1 (A1166C (rs5186) and C573T (rs5182)), ACE (I/D (rs1799752) and G2350A (rs4343)), and CYP11B2 C-344T (rs1799998) were genotyped and compared between cases and controls to identify SNPs associated with ESRD susceptibility. Multifactor dimensionality reduction (MDR) was used to identify gene-gene interactions. Several RAAS genes were associated with ESRD: AGT M235T, ACE I/D, ACE G2350A, and CYP11B2 C-344T. By MDR analysis, a three-locus model (ACE ID/ACE G2350A/CYP11B2 C-344T) of gene-gene interaction was the best for predicting ESRD risk, and its maximum testing accuracy was 56.08% and maximum cross-validation consistency was 9/10. ESRD risk was higher with the simultaneous occurrence of ACE I/D DD-ACE G2350A AA. AGT, ACE, and CYP11B2 gene polymorphisms are associated with ESRD.Conclusions. The gene-gene interaction effects of ACE I/D, ACE G2350A, and CYP11B2 C-344T polymorphisms are more important than individual factors for ESRD development among Han Chinese.

scholarly journals Single nucleotide polymorphisms in the ANGPTL4 gene and the SNP-SNP interactions on the risk of atherosclerotic Ischaemic stroke

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Chaoxiong Shen ◽  
Daofeng Fan ◽  
Huajun Fu ◽  
Chong Zheng ◽  
Yinjuan Chen ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Single Nucleotide Polymorphisms ◽  
Gene Interaction ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Testing Accuracy ◽  
Medical University ◽  
The Impact ◽  
Snp Interaction ◽  
Control Study

Abstract Objectives The purpose of this study was to investigate the impact of single nucleotide polymorphisms (SNPs) in the ANGPTL4 gene and the SNP–SNP interactions on atherosclerotic ischemic stroke (IS) risk. Patients and methods A case-control study was conducted. A total of 360 patients with atherosclerotic IS and 342 controls between December 2018 and December 2019 from Longyan First Hospital affiliated to Fujian Medical University were included. A logistic regression model was used to examine the association between SNPs and atherosclerotic IS risk. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated. Generalized multifactor dimensionality reduction was employed to analyze the SNP-SNP interaction. Results Logistic regression analysis showed that atherosclerotic IS risk was significantly lower in carriers with the rs11672433-T allele than those with the CC genotype (CT+ TT vs. CC); adjusted OR, 0.005; 95% CI, 0.02–0.11. We found a significant 2-locus model (P = 0.0010) involving rs11672433 and rs4076317; the cross-validation consistency of this model was 10 of 10, and the testing accuracy was 57.96%. Participants with the CT or TT of rs11672433 and CC of rs4076317 genotype have the lowest atherosclerotic IS risk, compared to subjects with CC of rs11672433 and the CC of rs4076317 genotype, OR (95%CI) was 0.06(0.02–0.22), after covariates adjustment for gender, age, smoking and alcohol status, hypertension, Diabetes mellitus, TG, TC, HDL-C, LDL-C, Uric acid. Conclusions We found that rs11672433 was associated with decreased atherosclerotic IS risk; we also found that gene–gene interaction between rs11672433 and rs4076317 was associated with decreased atherosclerotic IS risk.

Single Nucleotide Polymorphisms in Promoter Region of Tgf-β 1 Gene Distinguish African Americans from Caucasians: A Possible Genetic Basis for Racial Differences in Epidemiology of Hypertension and End Stage Renal Disease.

Hypertension ◽  
2000 ◽  
Vol 36 (suppl_1) ◽  
pp. 717-717
Author(s):  
Ruchuang Ding ◽  
Baogui Li ◽  
Mohini Gulhati ◽  
Yun Zhang ◽  
Geraldine Helseth ◽  
...  
Keyword(s):  
African Americans ◽  
Single Nucleotide Polymorphisms ◽  
Renal Disease ◽  
Racial Differences ◽  
End Stage Renal Disease ◽  
Transforming Growth Factor ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Stage Renal Disease ◽  
End Stage

P135 Transforming growth factor-beta 1 (TGF-β 1 ) excess is a candidate risk factor for hypertension and hypertensive complications including LVH, vascular remodeling and end stage renal disease (ESRD). We reported that hyperexpression of TGF-β 1 protein is more prevalent in African Americans (AA) compared with Caucasians (C), particularly AA with hypertension and/or ESRD. Single nucleotide polymorphisms (SNPs) have been reported in the TGF-β 1 gene, and there is evidence for heritable control of TGF-β 1 protein levels. In this study we tested the hypothesis that TGF-β 1 SNPs distinguish AA from C. We determined the frequencies of all 6 known biallelic TGF-β 1 DNA polymorphisms in 793 subjects (AA=342 [normal: 77, hypertension: 66, ESRD: 199], C=451 [normal: 142, hypertension: 81, ESRD: 228]). SNPs as well as cis/trans combination of alleles (haplotypes) were identified by designing and using allele specific primers in an amplification refractory mutation system PCR . Our data demonstrate that SNPs at -800bp and -509bp and the haplotype frequencies (GC, GT, AC, AT) are significantly different between AA and C (Table). In conclusion, genetically determined differences in TGF-β 1 production may explain TGF-β 1 excess in AA as well as provide a molecular basis for the excess burden of hypertension and hypertensive complications in AA.

scholarly journals Effects of Cognitive- and Sleep- Related Single Nucleotide Polymorphisms on Cognitive Functions in the Han Chinese Community-dwelling Elderly

2020 ◽  
Author(s):  
Jing Li ◽  
Jiangning Fu ◽  
Zhiwei Zheng ◽  
Xinyi Zhu ◽  
Xiaoyan Han ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Single Nucleotide Polymorphisms ◽  
Digit Span ◽  
Han Chinese ◽  
Community Dwelling ◽  
Gene Interactions ◽  
Short Version ◽  
High Risk Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Abstract Objective: The genetic biomarkers on Alzheimer’s disease (AD) have been widely studied in different groups. Since the lack of efficacy therapeutic methods for AD, early recognition in preclinical stage becomes increasingly important. Evidence of AD and cognitive-related single nucleotide polymorphisms (SNPs) in high risk population is insufficiency. Our aim was to assess whether these SNPs within cognitive- and sleep- associated genes are correlated with cognitive impairment independently or through gene-gene interactions in community-dwelling elderly in Beijing. Methods: Eight single-nucleotide polymorphisms (SNPs) were genotyped in 2133 Northen Han Chinese elderly from ten communites in Chaoyang District, Beijing. The short version of the Montreal Cognitive Assessment-Beijing (MoCA-s), Ascertain Dementia 8 (AD8), Digit Span Backwards (DSB), Digital Symbol Substitution Test (DSST), and Paired Associative Learning Test (PALT) were used to detect different cognitive domains.Results: Logistic regression analyses showed a significant correlation between APOE (rs429358), ABCC9 (rs11046205) and cognitive impairment, and an interaction between ABCC9 (rs11046205)/APOE promoter (rs405509) and APOE ε4 status. Additionally, we found a significant negative association between the additive model of APOE (rs429358) and MMSE score. Moreover, our analysis revealed that the gene-gene interaction between ABCC9 (rs11046205) and APOE (429358) may contribute to the etiology of congnitive impairment.Conclusions: This study confirmed the independent contribution of AD, memory and sleep-related genes in the cognitive impairment of the community-dwelling elderly in China, as well as through gene-gene interactions.

Genetic Investigation of Major Histocompatibility Complex Class-I Related RAET1 Genes for Association in a Glomerulonephritis Population

2012 ◽  
Vol 4 (2) ◽  
pp. 48-50
Author(s):  
Dwaine R. Vance ◽  
Theresa A. Bennett ◽  
Alexander P. Maxwell ◽  
Amy Jayne McKnight
Keyword(s):  
Kidney Disease ◽  
Nucleotide Polymorphisms ◽  
Transplant Recipients ◽  
Kidney Transplant Recipients ◽  
Single Nucleotide ◽  
Risk Genes ◽  
Histocompatibility Complex ◽  
Stage Renal Disease ◽  
End Stage ◽  
Provisional Data

Chromosome 6q22–27 harbors risk genes for kidney disease. We evaluated 1,434 individuals with glomerulonephritis (cases) and 603 unaffected individuals (controls) for RAET1 genes at 6q22–27 using samples from the Medical Research Council/Kidney Research UK Glomerulonephritis DNA bank in a 2-stage approach. Top ranked single nucleotide polymorphisms were also geno-typed in kidney transplant recipients (n=571) and their respective donors (n=520) as controls to evaluate association with end-stage renal disease (ESRD). Provisional data suggested that rs9397070 in the RAET1G gene was associated with susceptibility to glomerulonephritis [Odds ratio (OR) 1.24, 95%; confidence interval (CI): 1.01–1.54, P=0.04] and further supported by additional genotyping (OR 1.22, 95% CI: 1.03–1.42, P=0.02). Genotyping the renal transplant population did not identify any significant association with ESRD. The RAET1 gene family contains candidate genes for kidney disease; however, common RAET1 gene polymorphisms are not identified as strong genetic risk factors for glomerulonephritis in these white populations.

scholarly journals Association of IL-10 and IL-10RA single nucleotide polymorphisms with the responsiveness to HBV vaccination in Chinese infants of HBsAg(+)/HBeAg(−) mothers: a nested case–control study

BMJ Open ◽  
2018 ◽  
Vol 8 (11) ◽  
pp. e022334
Author(s):  
Simin Wen ◽  
Yanhua Wu ◽  
Yuchen Pan ◽  
Mengzhuo Cao ◽  
Dan Zhao ◽  
...  
Keyword(s):  
Hepatitis B ◽  
Single Nucleotide Polymorphisms ◽  
Case Control Study ◽  
Case Control ◽  
Han Chinese ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Hbv Vaccination ◽  
Nested Case Control ◽  
Control Study

ObjectivesTo investigate the association of interleukin (IL)-10 and IL-10 receptor A (IL-10RA) single nucleotide polymorphisms with the responsiveness to hepatitis B virus (HBV) vaccination in newborns whose mothers were hepatitis B surface antigen (HBsAg)(+)/hepatitis B e antigen (HBeAg)(–).DesignNested case–control study.SettingChangchun, China.Participants713 infants from a Han Chinese population whose mothers were HBsAg(+)/HBeAg(–) and participated in the prevention of mother-to-child transmission of HBV at the First Hospital of Jilin University from July 2012 to July 2015 were included. Infants were excluded for HBsAg-positive; unstandardised vaccination process; inadequate blood samples; not Han Chinese and failed genotyping.ResultsInfants with artificial feeding pattern were correlated with low responsiveness to HBV vaccination (p=0.009). The GG genotype of IL-10 rs3021094 was correlated with a higher risk of low responsiveness to HBV vaccination (OR 2.80, 95% CI 1.35 to 5.83). No haplotype was found to be correlated with responsiveness to HBV vaccination. No gene–gene interaction was found between IL-10 and IL-10RA.ConclusionsOur study found that IL-10 gene variants were significantly associated with the immune response to the HBV vaccine. Identifying these high-risk infants who born to HBsAg(+)/HBeAg(–) mothers and low responses to hepatitis B vaccination will provide evidence for individualised prevention strategies.

scholarly journals Investigation of FADS Gene Cluster Single Nucleotide Polymorphisms in End-Stage Renal Disease Compared With Normal Controls

2021 ◽  
Vol 12 ◽  
Author(s):  
Amirhossein Miladipour ◽  
Mahdi Gholipour ◽  
Kasra Honarmand Tamizkar ◽  
Atefe Abak ◽  
Vahid Kholghi Oskooei ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Renal Disease ◽  
Gene Cluster ◽  
End Stage Renal Disease ◽  
Fatty Acid Desaturase ◽  
Public Health Problem ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Stage Renal Disease ◽  
End Stage

End-stage renal disease (ESRD) is a public health problem with a high burden. The condition is associated with abnormalities in lipid metabolism. The fatty acid desaturase (FADS) gene cluster includes three genes that are significantly correlated with a number of pathologic conditions related to abnormal lipid levels. In the current study, we genotyped rs174556, rs99780, and rs7115739 single nucleotide polymorphisms within the FADS cluster in a population of ESRD patients and healthy controls. The rs174556 of the FADS1 gene and rs99780 of the FADS2 gene were not associated with the risk of ESRD in any inheritance model. However, the rs7115739 of FADS3 was associated with the risk of ESRD in all models except for the recessive model. The T allele of this SNP was significantly less prevalent among cases compared with controls [odds ratio (OR) (95% CI) = 0.44 (0.25–0.77), P value = 0.004]. GT and TT genotypes has been shown to decrease the risk of ESRD in a codominant model [OR (95% CI) = 0.49 (0.26–0.92) and OR (95% CI) = 0.18 (0.02–1.6), respectively; P value = 0.019]. In the dominant model, GT + TT status was associated with lower risk of ESRD [OR (95% CI) = 0.45 (0.24–0.82), P value = 0.0078]. Assessment of association between this SNP and risk of ESRD in an overdominant model revealed that GT genotype decreases the risk of this condition [OR (95% CI) = 0.5 (0.27–0.94), P value = 0.029]. Taken together, the rs7115739 of FADS3 is suggested as a putative modulator of the risk of ESRD in the Iranian population.

scholarly journals Impact of PD-1 gene polymorphism and its interaction with tea drinking on susceptibility to tuberculosis

2021 ◽  
Vol 149 ◽  
Author(s):  
Jing Wang ◽  
Mian Wang ◽  
Zihao Li ◽  
Xinyin Wu ◽  
Xian Zhang ◽  
...  
Keyword(s):  
Case Control Study ◽  
Preventive Measures ◽  
Nucleotide Polymorphisms ◽  
Unconditional Logistic Regression ◽  
Negative Interaction ◽  
Single Nucleotide ◽  
High Risk Populations ◽  
Tea Drinking ◽  
The Impact ◽  
Control Study

Abstract The aim of this study was to explore the impact of polymorphism of PD-1 gene and its interaction with tea drinking on susceptibility to tuberculosis (TB). A total of 503 patients with TB and 494 controls were enrolled in this case–control study. Three single-nucleotide polymorphisms of PD-1 (rs7568402, rs2227982 and rs36084323) were genotyped and unconditional logistic regression analysis was used to identify the association between PD-1 polymorphism and TB, while marginal structural linear odds models were used to estimate the interactions. Genotypes GA (OR 1.434), AA (OR 1.891) and GA + AA (OR 1.493) at rs7568402 were more prevalent in the TB patients than in the controls (P < 0.05). The relative excess risk of interaction (RERI) between rs7568402 of PD-1 genes and tea drinking was −0.3856 (95% confidence interval −0.7920 to −0.0209, P < 0.05), which showed a negative interaction. However, the RERIs between tea drinking and both rs2227982 and rs36084323 of PD-1 genes were not statistically significant. Our data demonstrate that rs7568402 of PD-1 genes was associated with susceptibility to TB, and there was a significant negative interaction between rs7568402 and tea drinking. Therefore, preventive measures through promoting the consumption of tea should be emphasised in the high-risk populations.

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