scholarly journals The rs9932581 and rs1049255 Polymorphisms in CYBA is not Associated with Preeclampsia in Chinese Han Women

2016 ◽  
Vol 39 (4) ◽  
pp. 1471-1478 ◽  
Author(s):  
Shiguo Liu ◽  
Xueying Li ◽  
Jingli Wang ◽  
Jing Ji ◽  
Jingjing Liu ◽  
...  

Background/Aims: Several lines of evidence have been reported that oxidative stress plays an important role in the pathogenesis of Preeclampsia (PE). Therefore, this research is aimed to investigate whether polymorphisms of CYBA are related to susceptibility to PE in Chinese Han women. Methods: We studied the genetic frequency of the rs9932581 and 1049255 polymorphisms in CYBA in 1029 PE patients and 1400 controls of later pregnant women by the TaqMan allelic discrimination real-time PCR and a case-control model. Results: Our research indicated that no significant differences were found for the genotypic or allelic frequencies at the two polymorphic sites in CYBA between PE patients and controls. To further study the relationship between the polymorphic sites and PE, we also found that there is no significant difference in the genetic distributions identified between the mild or severe PE and early or the late-onset PE and controls. Conclusion: The study demonstrated that the genetic variants of rs9932581 and rs1049255 in CYBA might not be associated with PE. However, investigations of genetic variability that influence on the disease outcome are needed in other large prospective populations or regions, so the complicated interconnection of genetic and environmental elements can be emulated for better understanding.

2018 ◽  
Vol 38 (3) ◽  
Author(s):  
Lei Pi ◽  
Lanyan Fu ◽  
Yufen Xu ◽  
Di Che ◽  
Qiulian Deng ◽  
...  

Kawasaki disease (KD) is a type of disease that includes the development of a fever that lasts at least 5 days and involves the clinical manifestation of multicellular vasculitis. KD has become one of the most common pediatric cardiovascular diseases. Previous studies have reported that miR-218 rs11134527 A>G is associated with susceptibility to various cancer risks. However, there is a lack of evidence regarding the relationship between this polymorphism and KD risk. The present study explored the correlation between the miR-218 rs11134527 A>G polymorphism and the risk of KD. We recruited 532 patients with KD and 623 controls to genotype the miR-218 rs11134527 A>G polymorphism with a TaqMan allelic discrimination assay. Our results illustrated that the miR-218 rs11134527 A>G polymorphism was not associated with KD risk. In an analysis stratified by age, sex, and coronary artery lesions, we found only that the risk of KD was significantly decreased for children older than 5 years (GG vs. AA/AG: adjusted OR = 0.26, 95% CI = 0.07–0.94, P=0.041). The present study demonstrated that the miR-218 rs1113452 A>G polymorphism may have an age-related relationship with KD susceptibility that has not previously been revealed.


2014 ◽  
Vol 26 (4) ◽  
pp. 240-245 ◽  
Author(s):  
Li Su ◽  
Jianxiong Long ◽  
Baoyun Liang ◽  
Lian Gu ◽  
Runde Pan ◽  
...  

BackgroundSchizophrenia (SZ) is a common severe psychiatric disorder and a complex polygenic inherited disease that has not yet been fully interpreted. Heredity was proven to play an important role in the development of SZ. The association between theNOTCH4gene rs3131296 polymorphism and SZ was reported to reach significance at the genome-wide level; therefore, it is necessary to replicate this association in other different populations.MethodsTo evaluate the association of theNOTCH4gene rs3131296 polymorphism with the risk for SZ, and to explore whether a significant association could be replicated in different ethnic groups of China, we conducted this case–control study on 282 SZ cases (188 Han and 94 Zhuang) and 282 controls (188 Han and 94 Zhuang) among the Chinese Zhuang and Han populations.ResultsThe results showed no statistically significant difference in the genotype or allele frequencies of theNOTCH4gene variant rs3131296 between SZ patients and healthy controls in either the Zhuang or Han samples (p> 0.05). In addition, no significant difference was found in genotype or allele frequencies of theNOTCH4gene variant rs3131296 between cases and controls in the combined samples including Zhuang and Han samples.ConclusionsOur study failed to replicate the significant association between theNOTCH4gene rs3131296 polymorphism and the risk for SZ.


2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Mansour Karajibani ◽  
Farzaneh Montazerifar ◽  
Razieh Hosseini ◽  
Fatemeh Suni ◽  
Ali Reza Dashipour ◽  
...  

Background: Malnutrition causes nutritional, metabolism, and biochemical disorders and finally leads to mortality. Several studies have highlighted that serum liver enzymes are increased in patients with malnutrition. Objectives: This study aimed to evaluate the relationship between malnutrition and liver enzymes in hospitalized children in Zahedan. Methods: This case-control study was conducted among 145 hospitalized children under six years old, including 74 cases and 71 controls. The case group was diagnosed with malnutrition according to weight for age indices (Z-Score < -2SD), and controls were determined based on the following indices (Z-Score > -2SD) of classification of WHO 2006 growth standards. Serum was isolated after taking blood from the samples. Then liver enzymes, including AST, ALP, and ALT, were measured by spectrophotometric method. Results: A total of 145 subjects were enrolled that consisted of 74 cases and 71 controls. No significant difference was observed in serum liver markers, including AST, ALT, and ALP between the two groups, However, the level of AST, ALT, and ALP was higher than the standard level. There was a significant correlation between AST with ALT (r = 0.74, P < 0.001), and ALP (r = 0.27, P = 0.03). Conclusions: The findings indicated that there was no significant alteration in enzyme markers in the two groups. However, AST and ALT levels increased, and ALP levels decreased compared with the control. Different degrees of malnutrition, including mild, moderate, and severe, can probably change the levels of hepatic enzymes in under-nourished children. Alteration of these liver enzymes could be due to the metabolic modification, which can be the result of protein deficiency.


2020 ◽  
Author(s):  
Haozheng Yuan ◽  
Pei Fan ◽  
Li Yao ◽  
Yuying Lv ◽  
Haidong Wei ◽  
...  

Abstract Background We aimed to explore the relationship between ZSCAN25 and CYP2E1 polymorphisms and Ischemic stroke (IS) susceptibility among a Chinese Han population. Methods We enrolled 477 patients with IS and 480 age- and sex- matched health controls. Genotyping of the ZSCAN25 rs10242455, CYP2E1 rs2070672 and rs2515641 were performed by Agena MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) were calculated by logistic regression analysis. Results Rs10242455 (OR = 0.56, 95% CI: 0.34–0.93, p = 0.024) was associated with a reduced IS susceptibility, while rs2070672 (OR = 1.40, 95% CI: 1.12–1.75, p = 0.003) and rs2515641 (OR = 1.29, 95% CI: 1.01–1.64, p = 0.041) with an increased IS occurrence. Rs2070672 was observed to correlate with IS risk (OR = 4.06, p = 0.038) at age > 64 years, and rs10242455 (OR = 0.45, p = 0.021) and rs2070672 (OR = 3.28, p = 0.024) affected IS risk in males. In addition, rs10242455 (OR = 1.72, p = 0.014) was significantly associated with hypertension in IS patients. Conclusion Our study firstly found that rs10242455 in ZSCAN25, rs2070672 and rs2515641 in CYP2E1 were associated with the occurrence of IS in a Chinese Han population.


2020 ◽  
Author(s):  
Cuijuan Zheng ◽  
Jiayu Wang ◽  
Shouxiang Xie

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.


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Xuefeng Pan ◽  
Benjie Wei ◽  
Hong Wang ◽  
Lingyu Ma ◽  
Zhaoli Du ◽  
...  

Abstract Background Both genetic susceptibility and dysregulated lipid metabolism are important susceptibilities to preeclampsia. In the study, we devote to investigate the associations of FOXO3 and TLR7 genetic polymorphisms with preeclampsia in a Chinese population. Methods This case-control study involved 335 Han Chinese pregnant women, including 177 pregnant women with preeclampsia and 158 healthy controls. The preeclampsia group was further sub-grouped into early-onset preeclampsia (EOPE, n = 70)and late-onset preeclampsia (LOPE, n = 107. Three single nucleotide polymorphisms (SNPs), including FOXO3 (rs2232365, rs3761548), and TLR7 rs3853839 were genotyped by multiplex PCR for targeted next-generation sequencing. The χ2 test and multiple interaction effect analyses were performed to determine the association of three SNPs with serum lipid levels and thyroid function in women with preeclampsia. Results The genotype (CC vs. TT + CT) distribution of rs2232365 revealed a significant association with LOPE (P = 0.004, odds ratio = 3.525 (0.95 CI: 1.498–8.164)). No significant difference was found in the genotype and allele frequencies of rs3761548 and rs3853839 between controls and cases (P > 0.05). Moreover, the genotype CT/TT of rs2232365 was significantly correlated with increased TG/HDL levels in the LOPE group (p = 0.014). Conclusions The polymorphisms of rs2232365 are associated with the risk of LOPE and may modulate TG/HDL levels in pregnant women with LOPE.


2019 ◽  
Vol 39 (2) ◽  
Author(s):  
Sujie Zhang ◽  
Juan Wang ◽  
Hongliang Ji ◽  
Helei Jia ◽  
Dongsheng Guan

Abstract Using a case–control design, we assessed the association between single nucleotide polymorphisms (SNPs) of growth and differentiation factor 5 (GDF5)/rs143383 gene and interaction with environments and knee osteoarthritis (KOA). We recruited 288 KOA patients from the First Clinical College, Henan University of Chinese Medicine between June 2017 and May 2018. There was significant difference in genotype distribution between case group and control group (χ2 = 22.661, P=0.000). The minor C allele was significantly higher in the case group than that in the control group (20.5 vs 8.1%, P=0.000, odds ratio (OR) = 1.62, 95% confidence interval (CI): 1.29–2.03). Significant differences were also observed in other gene models. For age, all models show significant differences (P<0.05) for those whose age was more than 60 years, and no significant difference was observed for those under 60 years. For non-smoking group, there were significant differences between case group and control group, and for smoker, significance level was found in TT compared with CC and allele gene models. Patients with drinking and Bbody mass index (MI )≥ 24 also showed significant relationship between rs143383 and osteoarthritis (OA) under the following models: TT vs CC (P=0.000, P=0.018), TT/CT vs CC (P=0.043), TT vs CT/CC (P=0.000, P=0.009), and T vs C (P=0.024, P=0.000). Other gene models indicated no significance (P>0.05). Our results revealed a possible genetic association between GDF5 and KOA, and the TT genotype of rs143383 increased the risk of KOA in Chinese Han population. The interaction between GDF5 gene and drinking, smoking, and obesity further increased the risk of KOA.


2016 ◽  
Vol 38 (4) ◽  
pp. 1406-1414 ◽  
Author(s):  
Xiaoyan Ren ◽  
Mingzhen Guo ◽  
Caili Liu ◽  
Tao Huang ◽  
Qiang Li ◽  
...  

Background/Aims: Preeclampsia (PE) is a systemic inflammatory response syndrome involving varieties of cytokines, and previous studies have shown that IL-33 and its receptor IL-1RL1 play pivotal roles in the development of it. As a polygenetic hereditary disease, it is necessary to study the gene analysis for PE. Therefore, the present study was to determine whether IL-33 rs3939286 and IL-1RL1 rs13015714 associated with susceptibility to PE in Chinese Han women. Methods: 1,031 PE patients and 1,298 controls were enrolled and the genotyping for rs3939286 in IL-33 and rs13015714 in IL-1RL1 was performed by TaqMan allelic discrimination real-time PCR. Hardy-Weinberg equilibrium (HWE) was examined to ensure the group representativeness and Pearson's chi-square test was used to compare the differences in genetic distributions between the two groups. Results: No significant differences in genotypic and allelic frequencies of the two polymorphisms loci were observed between cases and controls. There were also no significant differences in genetic distributions between mild/severe and early/late-onset PE and control groups. Conclusion: Although our data suggested that the polymorphisms of IL-33 rs3939286 and IL-1RL1 rs13015714 might not be critical risk factors for PE in Chinese Han women, the results need to be validated in different nations.


2015 ◽  
Vol 37 (5) ◽  
pp. 1927-1933 ◽  
Author(s):  
Aiping Chen ◽  
Congying Li ◽  
Jingli Wang ◽  
Han Sha ◽  
Shunfu Piao ◽  
...  

Background/Aims: Accumulating evidence suggests that an excessive maternal systemic inflammatory response to pregnancy with exaggerated activation of the innate immune system plays a critical role in the development of preeclampsia (PE). In this study, we investigated whether polymorphisms in the Toll-like receptor 3 (TLR3) gene are associated with susceptibility to PE in the Chinese Han population. Methods: We recruited 987 PE patients and 1227 healthy pregnant women. Two polymorphisms (rs3775291 and rs3775296) located in TLR3 were genotyped by TaqMan allelic discrimination real-time PCR. The association between the genotype or allele frequencies and PE was examined using chi-square tests. Clinical data were compared between cases and controls using Student's t test. Results: No significant difference was determined in the genetic distribution of rs3775291 and rs3775296 between cases and controls. There were also no significant differences in the genotype and allele frequencies of either SNP between healthy pregnant women and patients with late or early onset PE, or with mild or severe PE. Conclusion: Although this is the first study of the association between TLR3 polymorphisms and preeclampsia, we found that TLR3 polymorphisms are unlikely to play a significant role in the development of preeclampsia in the Chinese Han population.


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