scholarly journals Contribution of angiotensinogen M235T and T174M gene variants and haplotypes to preeclampsia and its severity in (North African) Tunisians

2018 ◽  
Vol 19 (1) ◽  
pp. 147032031775392 ◽  
Author(s):  
Hedia Zitouni ◽  
Marwa Ben Ali Gannoum ◽  
Nozha Raguema ◽  
Wided Maleh ◽  
Ines Zouari ◽  
...  
Keyword(s):  
Haplotype Analysis ◽  
Neonatal Morbidity ◽  
Minor Allele ◽  
Hypertensive Disorder ◽  
Gene Variants ◽  
North African ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Agt Gene ◽  
Control Study

Background: Preeclampsia (PE) is a pregnancy-associated hypertensive disorder and a leading cause of maternal and neonatal morbidity and mortality. While its pathogenesis remains ill defined, several candidate genes for PE have been identified, but results remain inconclusive. We investigated the association of the angiotensinogen ( AGT) gene variants M235T and T174M with PE, and we analyzed the contribution of both variants to the severity of PE. Methods: This case-control study enrolled 550 Tunisian pregnant women: 272 with PE, of whom 147 presented with mild, and 125 with severe PE, along with 278 unrelated age- and ethnically matched control women. AGT genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism. Results: Significantly higher M235T minor allele frequency (MAF) was associated with increased risk of PE ( p < 0.001). Decreased frequency of heterozygous T174M genotype carriers were found in control women ( p = 0.015), suggesting a protective effect of this genotype (odds ratio (95% confidence interval) = 0.51 (0.29–0.89)). Two-locus haplotype analysis demonstrated MM and TT haplotypes to be negatively and positively associated with PE, respectively. MAF of M253T, but not T174M, was higher in the severe PE group, and carrying M235T or T174M minor allele was associated with increased body mass index ( p < 0.001) among unselected PE women. Conclusions: AGT M235T and T174M variants contribute to an increased risk of developing PE, and for M235T to PE severity.

scholarly journals Evaluation of Transcription Factor 7 like 2 polymorphisms and haplotypes in risk of Type 2 Diabetes

2016 ◽  
Vol 24 (4) ◽  
pp. 423-430 ◽  
Author(s):  
Ramin Saravani ◽  
Zahra Irani ◽  
Hamid Reza Galavi
Keyword(s):  
Type 2 Diabetes ◽  
Transcription Factor ◽  
Haplotype Analysis ◽  
Amplification Refractory Mutation System ◽  
Chronic Disorder ◽  
Increased Risk ◽  
Significant Difference ◽  
Mutation System ◽  
Control Study

Abstract Type 2 diabetes (T2D) is a chronic disorder with different genetics and environmental factors. It is one of growing diseases in the world. Previous studies show association between Transcription Factor 7 Like2 (TCF7L2) and T2D. The current study set to evaluate the relation between TCF7L2 polymorphisms and T2D in Southeast Iran. The present case-control study was done on 250 T2D and 250 healthy controls (HCs). For genotyping polymorphisms TCF7L2 (rs11196205) and (rs4132670) Amplification-Refractory Mutation System-Polymers Chain Reaction (ARMS-PCR) was used. The results showed frequency rates of GC and CC genotypes increased in patients compared to controls (31% vs. 6% and 55% vs. 8%, respectively), showing a statistically significant difference (OR=2.67(1.37-5.21), P<0.05 and OR=3.31(1.92-5.71), P< 0.05, respectively). The C allele was associated with an increased risk of T2D, with the frequency of 28% and 11% in patients and controls, respectively (OR=3.11 (2.22-4.37), P< 0.05). Another Polymorphism of this gene TCF7L2 (rs4132670) was not associated with T2D. Furthermore, the haplotype analysis revealed that rs11196205C/rs4132670C and rs11196205C/rs4132670T are risk factors against T2D (OR=2.08 (1.49-2.86, P<0.05 and OR=1.72 (1.06-2.78) P<0.05, respectively). The findings demonstrated that TCF7L2 (rs11196205) genotypes GC, CC, and allele (C) confer risk for susceptibility to T2D.

scholarly journals Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate

2015 ◽  
Vol 48 (02) ◽  
pp. 159-164 ◽  
Author(s):  
Sathyaprasad Savitha ◽  
S. M. Sharma ◽  
Shetty Veena ◽  
R. Rekha
Keyword(s):  
Bone Morphogenetic Protein ◽  
Cleft Lip ◽  
Paediatric Population ◽  
Single Nucleotide ◽  
Morphogenetic Protein ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Bmp Signalling ◽  
Control Study

ABSTRACT Background: The bone morphogenetic protein (BMP) signalling pathway is crucial in a number of developmental processes and is critical in the formation of variety of craniofacial elements including cranial neural crest, facial primordium, tooth, lip and palate. It is an important mediator in regulation of lip and palate fusion, cartilage and bone formation. Aim: To study the role of mutation of BMP4 genes in the aetiology of non-syndromic cleft lip with or without palate (NSCL ± P) and identify it directly from human analyses. Materials and Methods: A case-control study was done to evaluate whether BMP4T538C polymorphism, resulting in an amino acid change of Val=Ala (V152A) in the polypeptide, is associated with NSCL ± P in an Indian paediatric population. Genotypes of 100 patients with NSCL ± P and 100 controls (in whom absence of CL ± P was confirmed in three generations) were detected using a polymerase chain reaction-restriction fragment length polymorphism strategy. Logistic regression was performed to evaluate allele and genotype association with NSCLP. Results: Results showed significant association between homozygous CC genotype with CL ± P (odds ratio [OR]-5.59 and 95% confidence interval [CI] = 2.85-10.99). The 538C allele carriers showed an increased risk of NSCL ± P as compared with 538 T allele (OR - 4.2% CI = 2.75-6.41). Conclusion: This study suggests an association between SNP of BMP4 gene among carriers of the C allele and increased risk for NSCLP in an Indian Population. Further studies on this aspect can scale large heights in preventive strategies for NSCLP that may soon become a reality.

scholarly journals Association of IL13R Alpha 1 + 1398A/G Polymorphism in a North Indian Population with Asthma: A Case-Control Study

2015 ◽  
Vol 6 (2) ◽  
pp. ar.2015.6.0126
Author(s):  
Shweta Sinha ◽  
Jagtar Singh ◽  
Surinder Kumar Jindal ◽  
Niti Birbian
Keyword(s):  
Indian Population ◽  
Immunoglobulin E ◽  
Airway Hyperreactivity ◽  
Total Serum ◽  
North Indian Population ◽  
Increased Risk ◽  
Asthma Patients ◽  
Polymerase Chain ◽  
Control Study

Background Interleukin 13 (IL13) is directly involved in the secretion of total serum immunoglobulin E (IgE), which plays a major role in the asthma pathogenesis. Objective One of the polymorphic receptor of IL13 is IL13Rα1, which after binding to IL13, initiates signal transduction that results in mucin secretion, airway hyperreactivity, fibrosis, and chitinase up-regulation, which increases asthma risk. Methods In the present study, the role of IL13Rα1 + 1398A/G gene polymorphisms in asthma was detected with a total of 964 individuals, including 483 healthy controls and 481 asthma patients from a North Indian population using polymerase chain reaction-restriction fragment length polymorphism method. Results Statistical analysis revealed that the mutant allele (G) is predominant in asthma patients (42.7%) than the controls (38.2%), which shows an increased risk toward asthma with odds ratio = 1.21, 95% confidence interval (1.00 −1.45), χ2 = 4.10 and p = 0.043. Furthermore, the phenotypic characteristics also reveal a significant association with the disease (p < 0.05). Conclusions This is the first study conducted in India and + 1398A/G polymorphism in noncoding region of IL13Rα1 confer risk toward asthma in the studied population.

scholarly journals Elevated IL-6 in Pre-Eclampsia Increases Neurite Growth and Mitochondrial Respiration in an in vitro Model of Neuronal Development

2021 ◽  
Author(s):  
Aaron Barron ◽  
Samprikta Manna ◽  
Colm McElwain ◽  
Andrea Musumeci ◽  
Fergus McCarthy ◽  
...  
Keyword(s):  
Mitochondrial Respiration ◽  
Neuronal Development ◽  
Neonatal Morbidity ◽  
Neurite Growth ◽  
Maternal Serum ◽  
Hypertensive Disorder ◽  
Uncomplicated Pregnancy ◽  
Increased Risk ◽  
Control Serum

Abstract Pre-eclampsia (PE) is a common and serious hypertensive disorder of pregnancy, which affects 3-5% of first-time pregnancies and is a leading cause of maternal and neonatal morbidity and mortality. Prenatal exposure to PE is associated with an increased risk of neurodevelopmental disorders in affected offspring, although the cellular and molecular basis of this are largely unknown. In this study we examined the effects of exposure to maternal serum from women with PE or a healthy uncomplicated pregnancy on the survival, neurite growth and mitochondrial function of SH-SY5Y cells. We report that cells exposed to PE serum exhibited increased neurite growth and mitochondrial respiration, two important neurodevelopmental parameters, compared to those treated with control serum. Levels of the pleiotropic cytokine IL-6 were significantly elevated in the PE sera, and cells exposed to PE serum displayed increased phospho-STAT3 levels which is a key intracellular mediator of IL-6 signalling. Finally, we show that treating these cells with IL-6 alone is sufficient to induce a similar neurite growth and respiratory phenotype to PE serum-exposed cells. This suggests that elevated IL-6 seen in maternal serum in PE may be responsible at least in part for its inducing increased neurite growth and mitochondrial respiration in SH-SY5Y cells. Overall, this study demonstrates that there are circulating factors in the serum of women with pre-eclampsia that affect neuronal development and oxygen consumption differently to that of a healthy uncomplicated pregnancy, and that immune dysregulation via elevated IL-6 may be important in mediating these effects.

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 Association of PICK1 and BDNF variations with increased risk of methamphetamine dependence among Iranian population; a case-control study

2020 ◽  
Author(s):  
Amir Tajbakhsh ◽  
Maliheh Alimardani ◽  
Mahla Asghari ◽  
Soheila Abedini ◽  
Sohrab Saghafi Khadem ◽  
...  
Keyword(s):  
Haplotype Analysis ◽  
Case Control Study ◽  
Case Control ◽  
Iranian Population ◽  
Methamphetamine Abuse ◽  
Methamphetamine Dependence ◽  
Increased Risk ◽  
High Level ◽  
Bdnf Rs6265 ◽  
Control Study

Abstract Background: Genetic factors play an important role in susceptibility to methamphetamine dependency. In this line, protein that interact with C-kinase-1 (PICK1) and brain-derived neurotrophic factor (BDNF) genes are linked to methamphetamine dependence (substance use disorder). Thus, in a case-control study, we investigated the association between polymorphisms of PICK1 and BDNF genes and methamphetamine dependence in an Iranian population.Methods: Total of 235 cases and 204 controls were recruited in a period between 2015 to 2018. The PICK1-rs713729, -rs2076369 and BDNF-rs6265 genotypes were determined via ARMS-PCR assay. Statistical analysis was performed, using SPSS 20.0, PHASE 2.1.1 program as well as SNP Analyzer 2.0.Results: In the present study, two polymorphisms including PICK1-rs713729 (OR: 1.38 (CI: 1.08-1.52; P-value: 0.004) in multiplicative and dominant models, and PICK1-rs2076369 (OR: 1.31 (CI: 1.10-1.56; P-value: 0.002) in multiplicative, dominant and co-dominant models were associated with the risk of methamphetamine abuse. Moreover, haplotype analysis showed a significant association of haplotype AG (OR: 2.50 (CI: 1.50-4.16; P-value: 0.0002) in dominant, recessive and co-dominant models, and haplotype TT (OR: 0.67 (CI: 0.50-0.91; P-value: 0.009) in dominant and co-dominant models with the risk of methamphetamine abuse. None of the polymorphisms in this study had a high level of linkage disequilibrium. Conclusion: Our findings indicate that the PICK1 gene polymorphism might affect the risk of methamphetamine dependency in our population.

The effect of CYP3A4 genetic variants on the susceptibility to chronic obstructive pulmonary disease in the Hainan Han population

2019 ◽  
Author(s):  
Huifang Shi ◽  
Jianguang Xu ◽  
Qiong Feng ◽  
Juan Sun ◽  
Yixiu Yang ◽  
...  
Keyword(s):  
Chronic Obstructive Pulmonary Disease ◽  
Pulmonary Disease ◽  
Haplotype Analysis ◽  
Protective Role ◽  
Chronic Obstructive ◽  
Obstructive Pulmonary Disease ◽  
Han Population ◽  
Increased Risk ◽  
Control Study ◽  
Increased Susceptibility

Abstract PurposeGenetic polymorphisms act crucial role in chronic obstructive pulmonary disease (COPD) progression. This study was designed to investigate the correlation between CYP3A4 variants and COPD risk.MethodsWe carried out a case-control study of 821 individuals (313 patients and 508 healthy subjects) to identify the correlation of CYP3A4 SNPs with COPD risk in the Hainan Han population. The association was assessed by Odds ratios (OR) and 95% confidence intervals (CI).ResultsOur study showed that rs4646437 polymorphism was related to an increased susceptibility to COPD (OR = 1.45, 95% CI = 1.10-1.90, p = 0.008). Stratified analyses indicated that the rs4646437 polymorphism was significantly associated with an increased risk of COPD in males (OR = 1.95, 95% CI = 1.19-3.20, p = 0.008). However, rs4646440 played a protective role in females (OR = 0.54, 95% CI = 0.31-0.93, p = 0.024). The rs4646437 SNP was identified significantly improve the risk of COPD in smoking subjects (OR = 1.67, 95% CI = 1.12-2.48, p = 0.011). While rs4646440 had a significantly lower susceptibility to COPD with non-smoking individuals (OR = 0.64, 95% CI = 0.45-0.90, p = 0.010). Haplotype analysis revealed that Ars4646440Trs35564277 and Grs4646440Trs35564277 haplotypes of CYP3A4 were found to reduce the risk of COPD in non-smoking (OR = 0.61, 95% CI = 0.49-0.94, p = 0.024).ConclusionOur results would give some new understanding of the association between CYP3A4 gene and COPD in the Hainan Han 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 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 Association of Interleukin-8 with Cachexia from Patients with Low-Third Gastric Cancer

2009 ◽  
Vol 2009 ◽  
pp. 1-6 ◽  
Author(s):  
Bo Song ◽  
Dianliang Zhang ◽  
Shuchun Wang ◽  
Hongmei Zheng ◽  
Xinxiang Wang
Keyword(s):  
Gastric Cancer ◽  
Cancer Cachexia ◽  
Haplotype Analysis ◽  
Positive Association ◽  
Serum Levels ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Polymerase Chain

Background. Interleukin (IL)-8 has been implicated in the development of cancer cachexia. The polymorphism of IL-8 gene, which may affect the production level of IL-8, may be associated with cancer cachexia.Methods. The serum IL-8 level in our study was examined by radioimmunoassay. We also analyzed single nucleotide polymorphisms (SNPs) −251 A/T and +781 C/T of IL-8 gene, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Results. The serum levels of IL-8 were significantly elevated in patients with low-third gastric cancer compared with controls, and were further up-regulated in patients with cachexia than those without (Z=−3.134,P=.002). A significantly increased frequency of +781 T allele was noted in patients with cachexia (OR=2.247, 95% CI: 1.351–3.737,P=.002). The +781 TT genotype was observed to be associated with a significantly increased risk of cachexia (OR=3.167, 95% CI: 1.265–7.929,P=.011), and with odds ratio of 3.033 (95% CI: 1.065–8.639,P=.038) for cachexia after adjusting for potential confounding factors. Meanwhile, haplotype analysis indicated a borderline positive association betweenT251T781haplotype and cachexia as compared with theT251C781haplotype (OR=4.92, 95% CI: 1.00–24.28;,P=.053).Conclusions. IL-8 appears to be associated with cachexia from patients with low-third gastric cancer.

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