scholarly journals MGP T-138C Polymorphism (TT Genotype) is Associated with Vascular Calcification Incidence in Indonesian Regular Hemodialysis Patients

2020 ◽  
Vol 12 (4) ◽  
pp. 320-324
Author(s):  
Muhammad Hanif Wibowo ◽  
Riri Andri Muzasti ◽  
Syafrizal Nasution
Keyword(s):  
Vascular Calcification ◽  
Matrix Gla Protein ◽  
P Value ◽  
Mineral Deposition ◽  
Pcr Rflp ◽  
Common Causes ◽  
The Matrix ◽  
Polymerase Chain ◽  
Control Study ◽  
Regular Hemodialysis

BACKGROUND: Vascular calcification contributes greatly to the incidence of cardiovascular disease. Previously, vascular calcification was considered as a passive process caused by the mineral deposition from the circulation. Nowadays, researchers have found inhibitors and promoter factors from vascular calcification, one of which is the matrix gla protein (MGP). MGP levels depend on the gene that encodes them. The MGP T-138C polymorphism is one of the most common causes of vascular calcification.METHODS: This was a case-control study involving 86 chronic kidney disease (CKD) patients who underwent regular hemodialysis in Rasyida Kidney Hospital, Medan, Indonesia. Vascular calcification was determined from lateral and posteroanterior abdominal X-ray. The MGP T-138 C polymorphism was analyzed using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP).RESULTS: The TT/TC genotype associates with the incidence of vascular calcification with OR of 3.52, 95% CI: 1.23-10.106 (p-value<0.001).CONCLUSION: There is an association between MGP T-138C polymorphism, particularly on T Allele with the incidence of vascular calcification in CKD patients undergoing regular hemodialysis.KEYWORDS: hemodialysis, T-138 C polymorphism, vascular calcification, matrix GLA protein

scholarly journals High Frequency of Cryptosporidium hominis Infecting Infants Points to A Potential Anthroponotic Transmission in Maputo, Mozambique

Pathogens ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 293
Author(s):  
Idalécia Cossa-Moiane ◽  
Hermínio Cossa ◽  
Adilson Fernando Loforte Bauhofer ◽  
Jorfélia Chilaúle ◽  
Esperança Lourenço Guimarães ◽  
...  
Keyword(s):  
Public Hospitals ◽  
Diagnostic Methods ◽  
Molecular Diagnostic ◽  
P Value ◽  
Cryptosporidium Hominis ◽  
Cryptosporidium Spp ◽  
Pcr Rflp ◽  
Maputo City ◽  
Stool Samples ◽  
Polymerase Chain

Cryptosporidium is one of the most important causes of diarrhea in children less than 2 years of age. In this study, we report the frequency, risk factors and species of Cryptosporidium detected by molecular diagnostic methods in children admitted to two public hospitals in Maputo City, Mozambique. We studied 319 patients under the age of five years who were admitted due to diarrhea between April 2015 and February 2016. Single stool samples were examined for the presence of Cryptosporidium spp. oocysts, microscopically by using a Modified Ziehl–Neelsen (mZN) staining method and by using Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) technique using 18S ribosomal RNA gene as a target. Overall, 57.7% (184/319) were males, the median age (Interquartile range, IQR) was 11.0 (7–15) months. Cryptosporidium spp. oocysts were detected in 11.0% (35/319) by microscopy and in 35.4% (68/192) using PCR-RFLP. The most affected age group were children older than two years, [adjusted odds ratio (aOR): 5.861; 95% confidence interval (CI): 1.532–22.417; p-value < 0.05]. Children with illiterate caregivers had higher risk of infection (aOR: 1.688; 95% CI: 1.001–2.845; p-value < 0.05). An anthroponotic species C. hominis was found in 93.0% (27/29) of samples. Our findings demonstrated that cryptosporidiosis in children with diarrhea might be caused by anthroponomic transmission.

scholarly journals Impact of Genetic Variation in TLR4 3′UTR on NSCLC Genetic Susceptibility

2020 ◽  
Vol 2020 ◽  
pp. 1-7 ◽  
Author(s):  
Hongjiao Wu ◽  
Hui Gao ◽  
Ang Li ◽  
Yuning Xie ◽  
Zhenxian Jia ◽  
...  
Keyword(s):  
Genetic Susceptibility ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Lung Cancer Patients ◽  
Pathological Type ◽  
Gender And Age ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Affect Gene Expression ◽  
Control Study

Toll-like receptors (TLRs) are expressed not only in immune cells but also in a variety of tumor cells. Single-nucleotide polymorphisms (SNPs) located in the TLRs’ promoter or the 3′ untranslated region may affect gene expression by affecting the activity of the promoter or regulating the binding of mRNA to miRNA. This study aimed to investigate the association of the SNPs in TLR genes with the susceptibility to NSCLC. This case-control study involved 700 lung cancer patients and 700 healthy controls. All individuals were genotyped for all selected SNPs in TLR genes using polymerase chain reaction (PCR) test-based restriction fragment length polymorphism (PCR-RFLP) and TaqMan SNP genotyping assay. The association of genetic variations in TLRs with the susceptibility to NSCLC was evaluated by unconditional logistic regression with OR (95% CI). After evaluating transcriptional factor or miRNA binding capability by bioinformatics methods, six TLRs were identified for further analysis. We did not find that TLR3 rs5743303, TLR4 rs1927914, TLR4 rs11536891, TLR5 rs1640816, and TLR7 rs3853839 were associated with NSCLC risk (P>0.05). Our data showed that TLR4 rs7869402 C > T polymorphism reduced the risk of NSCLC with OR (95% CI) of 0.63 (0.45–0.89). When stratified by gender and age, the individuals carrying at least one rs7869402T allele significantly decreased the NSCLC risk among males (OR = 0.58, 95% CI = 0.38–0.87) and among youngsters (OR = 0.43, 95% CI = 0.27–0.69). Smoking stratification analysis showed that the rs7869402T allele-containing genotype reduced the risk of NSCLC with OR (95% CI) of 0.50 (0.29–0.87) among smokers but not among nonsmokers (P>0.05). When the individuals were classed by the pathological type, we found that the rs7869402T-containing genotype was associated with the risk of adenocarcinoma (OR = 0.62, 95% CI = 0.41–0.92) but not with that of squamous cell carcinoma (OR = 0.71, 95% CI = 0.44–1.13) and other types (OR = 0.23, 95% CI = 0.03–1.70). Compared with the TLR4 Ars1927914-Crs7869402-Trs11536891 haplotype, the Grs1927914-Trs7869402-Trs11536891 haplotype was associated with a decreased risk for developing NSCLC with OR (95% CI) of 0.57 (0.41–0.80). These results indicated that the TLR4 rs7869402 variation affects the genetic susceptibility to NSCLC.

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 Genetic polymorphisms of inflammasome genes associated with pediatric acute lymphoblastic leukemia and clinical prognosis in the Brazilian Amazon

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Fabíola Silva Alves ◽  
Lilyane Amorim Xabregas ◽  
Marlon Wendell Athaydes Kerr ◽  
Gláucia Lima Souza ◽  
Daniele Sá Pereira ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Genetic Polymorphisms ◽  
Childhood Leukemia ◽  
Fragment Length Polymorphism ◽  
Lymphoblastic Leukemia ◽  
Clinical Prognosis ◽  
Real Time Quantitative Pcr ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Control Study

AbstractThe immune system plays an important role in the control of cancer development. To investigate the possible association of inflammasome genes to childhood leukemia we performed a case-control study with 158 patients with acute lymphoblastic leukemia and 192 healthy individuals. The IL1B and IL18 genetic polymorphisms were genotyped by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) and NLRP1, NLRP3 and P2RX7 were genotyped using Real Time quantitative PCR (qPCR). The IL1B C/T rs19644 genotype was associated with the risk of developing ALL (C/C vs. C/T + T/T OR: 2.48 [95% CI: 1.26–4.88, p = 0.006]; C/C vs C/T OR: 2.74 [95% CI: 1.37–5.51, p = 0.003]) and the NLRP1 A/T rs12150220 (OR: 0.37 [95% CI: 0.16–0.87, p = 0.023]) was associated with protection against infectious comorbidities. It was not found association between NLRP3 and P2RX7 polymorphisms and acute lymphoblastic leukemia in our study. Our results suggest that the inflammasome single-variant polymorphisms (SNVs) may play a role in the development and prognostic of childhood leukemia. However, this finds requires further study within a larger population in order to prove it.

scholarly journals The Association Between TP53 rs1625895 Polymorphism and the Risk of Sarcopenic Obesity in Iranian Older Adults: A Case-Control Study

2020 ◽  
Author(s):  
Nima Montazeri-Najababady ◽  
Mohammad Hossein Dabbaghmanesh ◽  
Nasrin Nasimi ◽  
Zahra Sohrabi ◽  
Nazanin Chatrabnous
Keyword(s):  
Case Control Study ◽  
Handgrip Strength ◽  
Sarcopenic Obesity ◽  
P Value ◽  
Anthropometric Parameters ◽  
Chi Square ◽  
Pcr Rflp ◽  
Chi Square Test ◽  
Adjusted Model ◽  
Control Study

Abstract Background: Aging and obesity are the two major global health concerns. Sarcopenia, an age-linked disease, wherein a progressive loss of muscle volume, muscle strength, and physical activity occurs. In this study we evaluated the association of TP53 rs1625895 polymorphism with the susceptibility to sarcopenic obesity in Iranian old-age subjects. Total of 206 old individuals (45 sarcopenic and 161 non-sarcopenic) were recruited in this research and genotyped by PCR–RFLP. BMI, Skeletal Muscle Mass Index (SMI), body composition, Handgrip Strength (HGS), Gait Speed (GS), and biochemical parameters were measured. Chi-square test was done for genotypes and alleles frequency. Linear regression was applied to find the correlation between TP53 rs1625895 polymorphism, and biochemical and anthropometric parameters. The correlation between TP53 rs1625895 and the risk of sarcopenia and sarcopenic obesity was investigated by logistic regression.Results: G allele was significantly higher in sarcopenic obesity group [P =0.037, OR (CI 95%)=1.9 (1.03-3.5)] compared to A allele. BMI (P= 0.049) and LDL (P=0.04) were significantly differed between genotypes when GG was compared to AA/AG genotype. The results revealed when GG genotype compared to AA/AG genotype in adjusted model for age, the risk of sarcopenic obesity [P value= 0.011, OR (CI 95%); 2.72 (1.25-5.91)] increased. Similarly, GG/AG genotype increased the risk of sarcopenic obesity [P value= 0.028, OR (CI 95%); 2.43 (1.10-5.36)] in adjusted model for age compared to AA genotype.Conclusion: We concluded that TP53 rs1625895 polymorphism may increase the risk of sarcopenic obesity in Iranian population.

scholarly journals TREM1 rs2234237 (Thr25Ser) Polymorphism in Patients with Cutaneous Leishmaniasis Caused by Leishmania guyanensis: A Case-Control Study in the State of Amazonas, Brazil

Pathogens ◽  
2021 ◽  
Vol 10 (4) ◽  
pp. 498
Author(s):  
José do Espírito Santo Júnior ◽  
Tirza Gabrielle Ramos de Mesquita ◽  
Luan Diego Oliveira da Silva ◽  
Felipe Jules de Araújo ◽  
Josué Lacerda de Souza ◽  
...  
Keyword(s):  
Cutaneous Leishmaniasis ◽  
Fragment Length Polymorphism ◽  
P Value ◽  
Tnf Α ◽  
Plasma Cytokines ◽  
Polymerase Chain ◽  
Leishmania Guyanensis ◽  
Control Study ◽  
Leishmania Parasites ◽  
Modest Effect

Background: Leishmaniasis is an infectious disease caused by Leishmania parasites. A Th1 immune response is necessary in the acute phase to control the pathogen. The triggering receptor expressed on myeloid cells (TREM)-1 is a potent amplifier of inflammation. Our aim is to identify whether the TREM1 variant rs2234237 A/T (Thr25Ser) is associated with the disease development of cutaneous leishmaniasis (CL) in Leishmania guyanensis-infected individuals. The effects of the rs2234237 genotypes on plasma cytokines IL-1β, IL-6, IL-8, IL-10, MCP-1 and TNF-α are also investigated. Methods: 838 patients with CL and 818 healthy controls (HCs) living in the same endemic areas were genotyped by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism. Plasma cytokines were assayed in 400 patients with CL and 400 HCs using the BioPlex assay. Results: The genotypes’ and alleles’ frequencies were similar in both patients with CL (AA = 618, 74%; AT = 202, 24%; TT = 18, 2%) and in HCs (AA = 580, 71%; AT = 220, 27%; TT = 18, 2%). Rs2234237 showed a modest effect on plasma IL-10 that disappeared when correction of the p-value was applied. Plasma IL-10 by rs2234237 genotypes were (mean ± SEM; AA = 2.91 pg/mL ± 0.14; AT = 2.35 pg/mL ± 0.12; TT = 3.14 pg/mL ± 0.56; p = 0.05). Conclusion: The TREM1 rs2234237 (Thr25Ser) seems to have no influence on the susceptibility or resistance to L. guyanensis infections.

scholarly journals MMP-2 and MMP-9 Polymorphisms and Preeclampsia Risk in Tunisian Arabs: A Case-Control Study

2021 ◽  
Vol 10 (12) ◽  
pp. 2647
Author(s):  
Marwa Ben Ali Gannoun ◽  
Nozha Raguema ◽  
Hedia Zitouni ◽  
Meriem Mehdi ◽  
Ondrej Seda ◽  
...  
Keyword(s):  
Promoter Region ◽  
Case Control Study ◽  
Fragment Length Polymorphism ◽  
Case Control ◽  
Hypertensive Disorders Of Pregnancy ◽  
Chain Reaction ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Control Study ◽  
Risk Of Preeclampsia

The abnormal production of matrix metalloproteinases (MMPs), especially MMP-9 and MMP-2, plays a pivotal role in hypertensive disorders of pregnancy, and as such, can influence the development of preeclampsia. These alterations may result from functional genetic polymorphisms in the promoter region of MMP-9 and MMP-2 genes, which modify MMP-9 and MMP-2 expression. We investigated the association of MMP-9 polymorphism rs3918242 (-1562 C>T) and MMP-2 polymorphism rs2285053 (-735 C>T) with the risk of preeclampsia. This case–control study was conducted on 345 women with preeclampsia and 281 age-matched women with normal pregnancies from Tunisian hospitals. Genomic DNA was extracted from whole blood collected at delivery. Genotypes for -1562 C>T and -735 C>T polymorphisms were performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). An increased frequency of heterozygous MMP-9 -1562 C/T genotype carriers was observed in women with preeclampsia compared to healthy controls (p = 0.03). In contrast, the MMP-2 -735 C>T polymorphism was not significantly different regarding frequency distribution of the allele and genotype between healthy pregnant women and women with preeclampsia. Our study suggests that the MMP-9 -1562 C/T variant, associated with high MMP-9 production, could be a genetic risk factor for preeclampsia in Tunisian women.

scholarly journals Matrix-GLA-Protein and Vascular Calcification: Can Diet Influence the Consequences of Matrix GLA Protein Inactivation? A Review

2021 ◽  
Vol 6 (10) ◽  
pp. 678-686
Author(s):  
Mirzaie Masoud ◽  
Josefina Kusnirova ◽  
Johann Philipp Addicks ◽  
Sheila Fatehpur
Keyword(s):  
Vascular Calcification ◽  
Matrix Gla Protein ◽  
Arterial Calcification ◽  
Main Role ◽  
Vascular Calcifications ◽  
Protein Subunits ◽  
Protein Inactivation ◽  
The Matrix ◽  
Calcification Process ◽  
Medial Arterial Calcification

In vascular calcification, as a physiological process, intimal arterial calcification (IAC) associated with increased cardiovascular risk is distinguished from medial arterial calcification (MAC) localized mainly in the lamina elatica interna, which are not only based on different pathophysiological mechanisms. They also lead to different cardiovascular diseases. While intimal arterial calcification involves inflammation and lipid accumulation, a calcification process similar to desmal ossification plays the main role in medial arterial calcification. In this context, the phenotype change of smooth muscle cells from muscular type to synthesizing form in the tunica media is considered to be of great importance, which puts the matrix GLA protein, mainly involved in bone metabolism, in the center of interest. The present review work elucidates the molecular biological basis of interaction of matrix GLA protein subunits in the pathogenesis of vascular calcifications and the influence of diet on the consequences of underactivation of matrix GLA protein.

scholarly journals No Direct Association of Serotonin Transporter (STin2 VNTR) and Receptor (HT 102T>C) Gene Variants in Genetic Susceptibility to Migraine

2010 ◽  
Vol 29 (5) ◽  
pp. 223-229 ◽  
Author(s):  
Gunjan Joshi ◽  
Sunil Pradhan ◽  
Balraj Mittal
Keyword(s):  
Genetic Susceptibility ◽  
Serotonin Transporter ◽  
Serotonin Receptor ◽  
Fragment Length Polymorphism ◽  
Significant Risk ◽  
P Value ◽  
Healthy Controls ◽  
Pcr Rflp ◽  
Direct Association ◽  
Polymerase Chain

We aimed to find out if the serotonin receptor (HT102T>C) and serotonin transporter (STin 2) polymorphisms play any role in genetic susceptibility of migraine. For the study, 217 migraine patients and 217 healthy controls (HC) were recruited and genotyping was carried out using the Polymerase Chain Reaction and Restriction Fragment Length polymorphism (PCR-RFLP) method. All results were Bonferroni corrected. We could not find any significant differences in the genotype or allele frequencies in case of HT 102 T>C polymorphism between migraine patients and healthy controls (P value=0.224). No significant association was seen at allele and carrier levels. Sub-grouping the patients on the basis of gender or on basis of migraine type i.e. with or without aura also did not show any association. Similarly, no difference in genotype (P value=0.236), allele (P value=0.550) or carrier frequency (P value=0.771) in STin 2 VNTR polymorphism was observed between migraine patients. However, HT 102 TC genotype was observed to interact significantly with the STin 2.10/10 genotype in enhancing risk of migraine, both with and without aura. In conclusion, the HT102 T>C receptor and the STin 2 VNTR transporter polymorphisms, did not individually confer any significant risk of migraine or its clinical subtypes but the two polymorphisms appear to synergistically influence susceptibility to migraine. Serotonin transporter (STin2 VNTR) and receptor (HT 102T>C) polymorphisms; Migraine with aura (MA); Migraine without aura (MO); Genetic susceptibility

scholarly journals The Association of IgE Levels with ADAM33 Genetic Polymorphisms among Asthmatic Patients

2021 ◽  
Vol 11 (5) ◽  
pp. 329
Author(s):  
Malek Zihlif ◽  
Amer Imraish ◽  
Baeth Al-Rawashdeh ◽  
Aya Qteish ◽  
Raihan Husami ◽  
...  
Keyword(s):  
Genetic Polymorphisms ◽  
Immunoglobulin E ◽  
Allergic Diseases ◽  
Total Serum ◽  
P Value ◽  
Asthmatic Patients ◽  
Minor Alleles ◽  
Adults And Children ◽  
Polymerase Chain ◽  
Control Study

Total serum immunoglobulin E (IgE) is elevated in multiple allergic diseases and is considered a good predictor of atopy. Several studies have been performed on the association of IgE levels with the polymorphism of the ADAM33 gene in asthmatic patients. The aim of this study was to determine whether there is an association between IgE levels and the genetic polymorphisms of the ADAM33 gene (T1, T2, T + 1, V4, S1, S2, and Q-1) in both healthy and asthmatic patients among Jordanians. The clinical data were collected for this case–control study from 267 asthmatic patients and 225 control subjects. Seven genetic polymorphisms (T1, T2, T + 1, V4, S1, S2, and Q-1) of the gene ADAM33 were analyzed using the polymerase chain reaction/restriction fragment length polymorphism method. The minor alleles (G) of T1, (A) of T2, T + 1, and (G) of V4 polymorphisms were associated with a significant increase in total serum IgE levels in adults but not children. The V4 genetic polymorphism, however, showed a significant association with IgE levels in both adults and children. The S1 polymorphism was significantly associated with the codominant module only in the adults. The S2 polymorphism showed a significant association (p-value < 0.05) in both codominant and recessive models. However, in the dominant model for both pediatric control and asthmatic patients, the association between the IgE and S2 polymorphism was insignificant (p-value = 0.7271 and 0.5259, respectively). This study found a statistically significant association between multiple ADAM33 genetic polymorphisms and IgE levels. Such findings add to the growing evidence that the ADAM33 gene has a major impact on IgE levels among asthmatic patients of Jordanian origin.

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