Association between polymorphisms inIL27and risk for CHD in a Chinese population

2015 ◽  
Vol 26 (2) ◽  
pp. 237-243 ◽  
Author(s):  
Danyan Zhang ◽  
Mingfu Ma ◽  
Yuyou Yang ◽  
Ling Wan ◽  
Zhixi Yang ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Atrial Septal Defect ◽  
Chinese Population ◽  
Septal Defect ◽  
Fragment Length Polymorphism ◽  
Chd Risk ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Maternal Tolerance ◽  
Control Study

AbstractBackgroundIL-27, a member of the IL-12 family, has been involved in maternal tolerance to the foetus and successful pregnancy. Growing evidences indicate that IL-27 plays a crucial role in pregnancy.AimWe carried out the present study in order to investigate whether polymorphisms in theIL27are associated with the risk for CHDs, including atrial septal defect and ventricular septal defect.Patients and methodsWe conducted this case–control study among 247 atrial septal defect patients, 150 ventricular septal defect patients, and 368 healthy controls in a Chinese population using polymerase chain reaction-restriction fragment length polymorphism assay.ResultsSignificantly increased risk for atrial septal defect (p=0.001, OR=1.490, 95% CI=1.178–1.887) and ventricular septal defect (p=0.004, OR=1.502, 95% CI=1.139–1.976) was observed to be associated with the allele G of rs153109. In a dominant model, we have also observed that increased susceptibilities for atrial septal defect (p<0.01, OR=1.89, 95% CI=1.35–2.63) and ventricular septal defect (p<0.01, OR=2.50, 95% CI=1.67–3.85) were statistically associated with rs153109; however, no association was found between CHD risk and rs17855750 in theIL27gene.ConclusionThe 153109 of theIL27gene may be associated with the susceptibility to CHD, including atrial septal defect and ventricular septal defect.

scholarly journals The association between IL-17 gene variants and risk of colorectal cancer in a Chinese population: A case–control study

2019 ◽  
Vol 39 (11) ◽  
Author(s):  
Haiyang Feng ◽  
Rongbiao Ying ◽  
Tengjiao Chai ◽  
Hailang Chen ◽  
Haixing Ju
Keyword(s):  
Colorectal Cancer ◽  
Chinese Population ◽  
Case Control Study ◽  
Fragment Length Polymorphism ◽  
Case Control ◽  
Chain Reaction ◽  
Node Metastasis ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Control Study

Abstract Interleukin (IL)-17 have been reported to be associated with the pathogenesis of colorectal cancer (CRC). Few studies investigated the association between IL-17 gene polymorphisms and risk of CRC with inconsistent findings. Thus, we recruited 352 CRC cases and 433 controls in a Chinese population and their genotyping was done using polymerase chain reaction-restriction fragment length polymorphism method. Our data showed that IL-17A rs2275913 polymorphism was associated with the increased risk of CRC, while no association was observed for IL-17F rs763780 polymorphism. Stratified analyses revealed that the significant association was also obtained in the females, smokers, drinkers and age ≥ 60 years groups for rs2275913 polymorphism. Moreover, the CC and/or GC genotype of rs2275913 polymorphism were correlated with TNM stage and lymph node metastasis. No association was shown between IL-17F rs763780 polymorphism and clinical characteristics of CRC. In conclusion, our data indicate that IL-17A rs2275913 polymorphism but not IL-17F rs763780 polymorphism contributes to increased risk for CRC patients in this Chinese population.

scholarly journals Interleukin-16Polymorphism Is Associated with an Increased Risk of Ischemic Stroke

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Xiao-li Liu ◽  
Jian-zong Du ◽  
Yu-miao Zhou ◽  
Qin-fen Shu ◽  
Ya-guo Li
Keyword(s):  
Ischemic Stroke ◽  
Chinese Population ◽  
Fragment Length Polymorphism ◽  
Chain Reaction ◽  
Sequencing Method ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
The Relationship ◽  
Genotype And Allele Frequencies

Clinical and experimental data have demonstrated that inflammation plays fundamental roles in the pathogenesis of ischemic stroke. Interleukin-16 (IL-16) is identified as a proinflammatory cytokine that is a key element in the ischemic cascade after cerebral ischemia. We aimed to examine the relationship between theIL-16polymorphisms and the risk of ischemic stroke in a Chinese population. A total of 198 patients with ischemic stroke and 236 controls were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing method. We found that the rs11556218TG genotype and G allele ofIL-16were associated with significantly increased risks of ischemic stroke (TG versus TT, adjusted OR = 1.88; 95% CI, 1.15–3.07; G versus T, adjusted OR = 1.54; 95% CI, 1.05–2.27, resp.). However, there were no significant differences in the genotype and allele frequencies ofIL-16rs4778889 T/C and rs4072111 C/T polymorphisms between the two groups, even after stratification analyses by age, gender, and the presence or absence of hypertension, diabetes mellitus, hypercholesterolemia, and hypertriglyceridemia. These findings indicate that theIL-16polymorphism may be related to the etiology of ischemic stroke in the Chinese population.

scholarly journals Single-Nucleotide Polymorphisms in XPO5 are Associated with Noise-Induced Hearing Loss in a Chinese Population

2020 ◽  
Vol 2020 ◽  
pp. 1-10 ◽  
Author(s):  
Ning Wang ◽  
Boshen Wang ◽  
Jiadi Guo ◽  
Suhao Zhang ◽  
Lei Han ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Chinese Population ◽  
Luciferase Reporter ◽  
Noise Induced Hearing Loss ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Control Study ◽  
Dual Luciferase Reporter Assay

Objectives.The purpose of this study was to investigate the correlation between single-nucleotide polymorphism (SNP) in 3′UTR of XPO5 gene and the occurrence of noise-induced hearing loss (NIHL), and to further explore the regulatory mechanism of miRNAs in NIHL on XPO5 gene. Methods.We conducted a case-control study involving 1040 cases and 1060 controls. The effects of SNPs on XPO5 expression were studied by genotyping, real-time polymerase chain reaction (qPCR), cell transfection, and the dual-luciferase reporter assay. Results.We genotyped four SNPs (rs2257082, rs11077, rs7755135, and rs1106841) in the XPO5 gene. The rs2257082 AG/GG carriers have special connection to an increased risk of noise-induced hearing loss compared to the AA carriers. The rs11077TG/GG carriers had a significantly increased association with NIHL susceptibility than the TT carriers. There was a higher risk of NIHL in the XPO5 gene rs7755135 CC carriers than in the TT carriers. No statistically significant correlation was obtained with respect to SNPrs1106841. Functional experiments showed that the rs11077 change might inhibit the interaction between miRNAs (miRNA-4763-5p, miRNA-5002-3p, and miRNA-617) and XPO5, with rs11077G allele resulting in overexpression of XPO5. Conclusion. The genetic polymorphism, rs11077, within XPO5 is associated with the risk of noise-induced hearing loss in a Chinese population.

Association ofCx43rs2071166 polymorphism with an increased risk for atrial septal defect

2017 ◽  
Vol 28 (3) ◽  
pp. 397-402 ◽  
Author(s):  
Ruoyi Gu ◽  
Wei Sheng ◽  
Xiaojing Ma ◽  
Guoying Huang
Keyword(s):  
Confidence Interval ◽  
Atrial Septal Defect ◽  
Odds Ratio ◽  
Septal Defect ◽  
Healthy Controls ◽  
Nucleotide Polymorphism ◽  
Chain Reaction ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Polymerase Chain

AbstractAtrial septal defect is one of the most common CHD. The pathogenesis of atrial septal defect still remains unknown.Cx43is the most prevalent connexin in the mammalian heart during development. Its genetic variants can cause several CHD. The aim of our study was to investigate the association of genetic variations of theCx43with sporadic atrial septal defect. A total of 450 paediatric patients were recruited, including 150 cases with atrial septal defect and 300 healthy controls. The promoter region ofCx43was analysed by sequencing after polymerase chain reaction. All data were analysed by using the Statistic Package for Social Science 19.0 software. The frequency of the single nucleotide polymorphism rs2071166 was significantly higher in atrial septal defect cases than in healthy controls. The CC genotype at rs2071166 site inCx43was correlated with an increased risk for atrial septal defect (p<0.0001, odds ratio=3.891, 95% confidence interval 1.948–7.772) and the C allele was positively correlated with atrial septal defect (p=0.007, odds ratio=1.567, 95% confidence interval 1.129–2.175). In conclusion, our results confirmed that rs2071166 inCx43may be relevant with an increased atrial septal defect risk.

scholarly journals rs744166 Polymorphism of theSTAT3Gene Is Associated with Risk of Gastric Cancer in a Chinese Population

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Kexin Yuan ◽  
Huimin Liu ◽  
Lina Huang ◽  
Xiyun Ren ◽  
Jingjing Liu ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Environmental Factors ◽  
Chinese Population ◽  
Case Control Study ◽  
Fragment Length Polymorphism ◽  
Chinese Patients ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Control Study ◽  
Development Of Gastric Cancer

The aim of this study was to explore the association between polymorphisms in signal transducer and activator of transcription protein 3 (STAT3) and the risk of gastric cancer. In the present study, a case-control study was conducted in which rs2293152 and rs744166 polymorphisms inSTAT3were analyzed in 209 Chinese patients with gastric cancer and 294 cancer-free controls. The genotypes were determined by polymerase chain reaction restriction fragment length polymorphism method. For the rs744166 polymorphism, the TC genotype (adjustedOR=0.60, 95% CI = 0.39–0.92, andP=0.020) and CC genotype (adjustedOR=0.41, 95%CI=0.21–0.80, andP=0.009) were associated with a decreased risk of gastric cancer compared to the TT genotype. However, rs2293152 did not show any difference in gastric cancer risk between patients and controls in the CG/CC genotype compared to the GG genotype. Besides, the SNP effects were additive to the effects of environmental factors without any interaction between them in the susceptibility to gastric cancer. Collectively, rs744166 polymorphism might be significantly associated with a decreased risk of gastric cancer in a Chinese population. Additionally, polymorphisms inSTAT3, along with environmental factors, might be associated with the development of gastric cancer.

scholarly journals CCN1 gene polymorphisms associated with atrial septal defect susceptibility in Northwest Chinese population from different high-altitude areas

2021 ◽  
Author(s):  
Wenke Yang ◽  
Jun Bai ◽  
Xinyu Song ◽  
Shasha Zhang ◽  
Nana Chen ◽  
...  
Keyword(s):  
Atrial Septal Defect ◽  
High Altitude ◽  
Chinese Population ◽  
Septal Defect ◽  
Cardiac Development ◽  
Chd Risk ◽  
Environment Exposure ◽  
Hypoxic Environment ◽  
Defect Susceptibility ◽  
The Difference

Abstract High-altitude hypoxic environment exposure is considered as one of the risk factors for congenital heart disease (CHD), but the genetic factors involved are still unclear. CCN1, one of the synergistic molecules in the hypoxic response, is also an indispensable molecule in cardiac development. Considering that CCN1 may play an important role in the occurrence of CHD in high-altitude areas, we investigated the association between CCN1 polymorphisms and CHD susceptibility in Northwest Chinese population from different high-altitude areas. We conducted a case-control study with a total of 395 CHD cases and 486 controls to evaluate the associations of CCN1 polymorphisms with CHD risk. Our results showed that the protective alleles rs3753793-C (OR = 0.59, 95% CI = 0.42–0.81, P = 0.001), rs2297141-A (OR = 0.66, 95% CI = 0.49–0.90, P = 0.001) and C-A haplotype of rs3753793-rs2297141 (OR = 0.58, 95% CI = 0.42–0.82, P = 0.002) were significantly associated with a decreased atrial septal defect (ASD) risk. Further subgroup analysis in different geography populations revealed robust association of SNP rs2297141 with ASD risk in a Han population residing in high-altitude of 2500–4287 m. We also found that the frequency of protective alleles was higher in high-altitude population, and the alleles were responsible for the difference of oxygen physiology related erythrocyte parameters in different high-altitude populations. rs3753793-C and rs2297141-A are likely related to high altitude and hypoxia adaptation, which may also be the reason for the association between CCN1 polymorphism and ASD risk.

Association of TGFBR2 rs6785358 Polymorphism with Increased Risk of Congenital Ventricular Septal Defect in a Chinese Population

2015 ◽  
Vol 36 (7) ◽  
pp. 1476-1482 ◽  
Author(s):  
Xiang-Ting Li ◽  
Chang-Qing Shen ◽  
Rui Zhang ◽  
Ji-Kui Shi ◽  
Zong-Hong Li ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Chinese Population ◽  
Septal Defect ◽  
Increased Risk

Management of Platelets in a Persian Girl with the Tetralogy_Pantalogy of Fallot (Tof_Pof): A Case Report Study

2020 ◽  
Author(s):  
Bahram Alamdary Badlou
Keyword(s):  
Case Report ◽  
Ventricular Septal Defect ◽  
Atrial Septal Defect ◽  
Sleep Disorders ◽  
Social Life ◽  
Rare Case ◽  
Septal Defect ◽  
Old Persian ◽  
Underlying Mechanisms ◽  
The Relationship

We report a rare case of unrepaired Tetralogy_Pantalogy of Fallot (TOF_POF) in a 20 years old Persian girl Mrs Zeynab S., who presented with cyanotic finger tops appearance, ongoing chronic thrombolytic destruction processes, and remarkable thrombocytopenia [1,2], heart ventricular septal defect (VSD), and might atrial septal defect (ASD), anxiety, sleep disorders, nightmares, and limited social life. Additionally, the relationship between underlying mechanisms, possible treatments of the thrombocytopenia, erythrocytosis, and unrepaired cardiovascular leakages remains unknown.

scholarly journals DNA Repair Gene Polymorphism and the Risk of Mitral Chordae Tendineae Rupture

2015 ◽  
Vol 2015 ◽  
pp. 1-6
Author(s):  
Aysel Kalayci Yigin ◽  
Mehmet Bulent Vatan ◽  
Ramazan Akdemir ◽  
Muhammed Necati Murat Aksoy ◽  
Mehmet Akif Cakar ◽  
...  
Keyword(s):  
Dna Repair ◽  
Fragment Length Polymorphism ◽  
Control Group ◽  
Chordae Tendineae ◽  
Repair Gene ◽  
Repair Capacity ◽  
Dna Repair Capacity ◽  
Dna Repair Gene ◽  
Increased Risk ◽  
Polymerase Chain

Polymorphisms in Lys939Gln XPC gene may diminish DNA repair capacity, eventually increasing the risk of carcinogenesis. The aim of the present study was to evaluate the significance of polymorphism Lys939Gln in XPC gene in patients with mitral chordae tendinea rupture (MCTR). Twenty-one patients with MCTR and thirty-seven age and sex matched controls were enrolled in the study. Genotyping of XPC gene Lys939Gln polymorphism was carried out using polymerase chain reaction- (PCR-) restriction fragment length polymorphism (RFLP). The frequencies of the heterozygote genotype (Lys/Gln-AC) and homozygote genotype (Gln/Gln-CC) were significantly different in MCTR as compared to control group, respectively (52.4% versus 43.2%,p=0.049; 38.15% versus 16.2%,p=0.018). Homozygote variant (Gln/Gln) genotype was significantly associated with increased risk of MCTR (OR = 2.059; 95% CI: 1.097–3.863;p=0.018). Heterozygote variant (Lys/Gln) genotype was also highly significantly associated with increased risk of MCTR (OR = 1.489; 95% CI: 1.041–2.129;p=0.049). The variant allele C was found to be significantly associated with MCTR (OR = 1.481; 95% CI: 1.101–1.992;p=0.011). This study has demonstrated the association of XPC gene Lys939Gln polymorphism with MCTR, which is significantly associated with increased risk of MCTR.

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