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 Variants of MIRNA146A rs2910164 and MIRNA499 rs3746444 are associated with the development of cutaneous leishmaniasis caused by Leishmania guyanensis and with plasma chemokine IL-8

2021 ◽  
Vol 15 (9) ◽  
pp. e0009795
Author(s):  
Tirza Gabrielle Ramos de Mesquita ◽  
José do Espírito Santo Junior ◽  
Thais Carneiro de Lacerda ◽  
Krys Layane Guimarães Duarte Queiroz ◽  
Cláudio Marcello da Silveira Júnior ◽  
...  
Keyword(s):  
Cutaneous Leishmaniasis ◽  
Wide Spectrum ◽  
Interleukin 1 ◽  
Clinical Manifestations ◽  
Cellular Functions ◽  
Pcr Rflp ◽  
Plasma Cytokines ◽  
Polymerase Chain ◽  
Leishmania Guyanensis ◽  
Necrosis Factor

Leishmania are intracellular protozoan parasites that cause a wide spectrum of clinical manifestations in genetically susceptible individuals with an insufficient or balanced Th1 immune response to eliminate the parasite. MiRNAs play important regulatory role in numerous biological processes including essential cellular functions. miR146-a acts as an inhibitor of interleukin 1 receptor associated kinase 1 (IRAK1) and tumour necrosis factor (TNF) receptor associated factor 6 (TRAF6) present in the toll-like receptors pathway while miR499a modulates TGF-β and TNF signalling pathways. Here, we investigated whether MIRNA146A rs2910164 and MIRNA499 rs3746444 variants are associated with the development of L. guyanensis (Lg)-cutaneous leishmaniasis (CL). The variants MIR146A rs2910164 and MIR499A rs3746444 were assessed in 850 patients with Lg-CL and 891 healthy controls by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Plasma cytokines were measured using the BioPlex assay. Carriers of rs2910164 CC genotype have 30% higher odds of developing CL (ORadjage/sex = 1.3 [95%CI 0.9–1.8]; Padjage/sex 0.14) compared to individuals with the genotype GG (ORadjage/sex = 0.77 [95%CI 0.56–1.0]; Padjage/sex 0.14) if exposed to Lg-infection. Heterozygous GC individuals also showed lower odds of developing CL (ORadjage/sex = 0.77 [95%CI 0.5–1.1]; Padjage/sex 0.09). Homozygosity for the allele C is suggestive of an association with the development of Lg-CL among exposed individuals to Lg-infection. However, the odds of developing CL associated with the CC genotype was evident only in male individuals (ORadjage = 1.3 [95% CI = 0.9–2.0]; Padjage = 0.06). Individuals homozygous for the G allele tend to have higher plasma IL-8 and CCL5. Similarly, for the MIR499A rs3746444, an association with the G allele was only observed among male individuals (OR = 1.4 [1.0–1.9]; P = 0.009). In a dominant model, individuals with the G allele (GG-GA) when compared to the AA genotype reveals that carriers of the G allele have 40% elevated odds of developing Lg-CL (ORadjage = 1.4 [1.1–1.9]). Individuals with the GG genotype have higher odds of developing Lg-CL (ORadjage/sex = 2.0 [95%CI 0.83–5.0]; Padjage = 0.01. Individuals homozygous for the G allele have higher plasma IL-8. Genetic combinations of both variants revealed that male individuals exposed to Lg bearing three or four susceptible alleles have higher odds of developing Lg-CL (OR = 2.3 [95% CI 1.0–4.7]; p = 0.017). Both MIR146A rs2910164 and MIR499A rs3746444 are associated with the development of Lg-CL and this association is prevalent in male individuals.

scholarly journals The association between MMP-1 gene rs1799750 polymorphism and knee osteoarthritis risk

2018 ◽  
Vol 38 (5) ◽  
Author(s):  
Rui Geng ◽  
Yuansheng Xu ◽  
Wenhao Hu ◽  
Hui Zhao
Keyword(s):  
Case Control Study ◽  
Fragment Length Polymorphism ◽  
Case Control ◽  
Chinese Han ◽  
Knee Oa ◽  
Matrix Metalloproteinase 1 ◽  
Standard Polymerase Chain Reaction ◽  
Different Populations ◽  
Polymerase Chain ◽  
Control Study

Matrix metalloproteinase 1 (MMP-1) degrades cartilage, which may result in osteoarthritis (OA) development. Several studies have explored the association between MMP-1 gene rs1799750 polymorphism and OA in different populations. However, the results are inconsistent. The aim of this case–control study was to investigate the association between MMP-1 gene rs1799750 polymorphism and knee OA in a Chinese population. The present study included 308 cases and 404 controls. Genotyping was performed using standard polymerase chain reaction and restriction fragment length polymorphism. The present study found that 2G2G genotype (2G2G vs 1G1G: OR & 95% CI, 2.28 (1.47–3.53), P<0.001; 2G2G + 1G2G vs 1G1G: OR & 95% CI, 1.61 (1.15–2.24), P=0.005; 2G2G vs 1G2G + 1G1G: OR & 95% CI, 1.84 (1.26–2.68), P=0.002) or 2G allele carriers (2G vs 1G: OR & 95% CI, 1.48 (1.20–1.83), P<0.001) of MMP-1 gene rs1799750 polymorphism increased the risk of OA. In conclusion, this case–control study confirms that MMP-1 gene rs1799750 polymorphism increases the risk of knee OA in Chinese Han population.

scholarly journals TP53 Intronic Polymorphisms and Risk of Esophageal Cancer in Southern Thai Population

2021 ◽  
Author(s):  
Paramee Thongsuksai ◽  
Pritsana Raungrut ◽  
Puttisak Puttawibul ◽  
Pleumjit Boonyaphiphat ◽  
Wanna Sudhikaran
Keyword(s):  
Esophageal Cancer ◽  
Blood Donors ◽  
Fragment Length Polymorphism ◽  
Cancer Susceptibility ◽  
Low Frequency ◽  
Tp53 Gene ◽  
Thai Population ◽  
Carcinoma Of Esophagus ◽  
Polymerase Chain ◽  
Control Study

Objective: The study aimed to determine the frequency of intron 3 16 base pair (bp) duplication polymorphism and intron 6 G to C substitution (G>C) of the TP53 gene and to evaluate the association these two intronic variants with the risk of esophageal cancer (EC).Material and Methods: A case-control study was conducted to evaluate the frequency and association of cancer. Cases were patients with squamous cell carcinoma of esophagus and controls were age and sex-matched non-cancer patients. Blood samples were also obtained from healthy blood donors. Polymerase chain reaction (PCR) was used to detect intron 3 16 bp duplication and PCR-restriction fragment length polymorphism was applied to detect intron 6 G>C. Logistic regression was used for the analysis.Results: Heterozygous intron 3 16 bp duplication (Del/Ins) was found in 10.1% (31/308) of blood donors, 9.3% (28/302) of controls and 8.6% (26/301) of EC cases. Intron 6 G>C was found in 0.3% (1/308) of blood donors, in 2.6% (8/310) of controls and 3.9% (12/307) of EC cases. Both variants displayed no significant association with risk of esophageal cancer (odd ratio (OR) = 1.16 [95% confidence interval (CI) = 0.64–2.11] for intron 3 16 bp duplication and OR = 0.81 [95% CI = 0.47-4.61] for intron 6 G>C.Conclusion: Southern Thai population have low frequency of intron 3 16 bp duplication polymorphism and intron 6 G>C variant, both of which are not likely to be associated with esophageal cancer susceptibility.

Study about the Relationship between TNF-Α-308G/A and Essential Hypertension in Specific Population-Taking Chinese Minority Zhuang in Guangxi as an Example

2013 ◽  
Vol 749 ◽  
pp. 149-153
Author(s):  
Xing Shou Pan ◽  
Ke Xing Lu ◽  
Tian Zi Li
Keyword(s):  
Essential Hypertension ◽  
Fragment Length Polymorphism ◽  
Control Group ◽  
Chain Reaction ◽  
Specific Population ◽  
Tnf Α ◽  
Polymerase Chain ◽  
Object Of Study ◽  
Tnf Gene ◽  
The Relationship

objective: study the association between TNF gene and essential hypertension (EH) in Chinese minority Zhuang population. Method: select 170 normal as control group and 246 patients with EH as an object of study, use polymerase chain reaction - restriction fragment length polymorphism method to analyze polymorphic loci in the promoter region of TNF-α gene-308G / A allele, and genotype frequency distribution characteristics were analyzed, and the relationship between genetic susceptibility polymorphisms and EH was given.

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 Role of Inflammatory, Anti-Inflammatory, and Regulatory Cytokines in Patients Infected with Cutaneous Leishmaniasis in Amazonas State, Brazil

2014 ◽  
Vol 2014 ◽  
pp. 1-10 ◽  
Author(s):  
Thaís Tibery Espir ◽  
Luanda de Paula Figueira ◽  
Maricleide de Farias Naiff ◽  
Allyson Guimarães da Costa ◽  
Marcelo Ramalho-Ortigão ◽  
...  
Keyword(s):  
Cutaneous Leishmaniasis ◽  
Expression Profiles ◽  
Control Group ◽  
Tnf Α ◽  
Significant Difference ◽  
Anti Inflammatory ◽  
Amazonas State ◽  
Protein Expression Profiles ◽  
Leishmania Guyanensis

The authors discuss in this paper the role of inflammatory, anti-inflammatory, and regulatory cytokines in patients infected with different species ofLeishmaniain Amazonas State, Brazil. A comparative analysis was made of serum concentrations of these cytokines in the peripheral blood of 33 patients infected with cutaneous leishmaniasis. The isolates were identified asLeishmania guyanensis,L. naiffi, andL. amazonensis. Most (64%) of the patients were male ranging in age from 18 to 58 years. Protein expression profiles of IL-2, IL-4, IL-6, IL-10, IFN-γ, TNF-α, and IL-17 cytokines were shown to vary significantly between infected and noninfected (control group) individuals and according to theLeishmaniaspecies. Infection caused byL. guyanensisaccounted for 73% of the cases and patients with this parasite also showed higher concentrations of IL-2, IFN-γ, IL-4, and IL-17 when compared to infection byL. amazonensis. Patients with infection caused byL. naiffishowed higher concentration of the cytokines analyzed when compared to uninfected patients; however, there was no statistically significant difference with the other species analyzed.

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 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 Association of angiotensin-converting enzyme insertion/deletion (ACE I/D) and angiotensinogen (AGT M235T) polymorphisms with the risk of obesity in a Tunisian population

2020 ◽  
Vol 21 (2) ◽  
pp. 147032032090782
Author(s):  
Wided Khamlaoui ◽  
Sounira Mehri ◽  
Sonia Hammami ◽  
Roberto Elosua ◽  
Mohamed Hammami
Keyword(s):  
Case Control Study ◽  
Fragment Length Polymorphism ◽  
Additive Model ◽  
Tunisian Population ◽  
Obese Patients ◽  
Chain Reaction ◽  
Matched Case ◽  
Polymerase Chain ◽  
Matched Case Control Study ◽  
Control Study

Objective: This study aims to determine whether genetic variants in ACE I/D and AGT M235T are associated with overweight-obesity and body mass index (BMI) in a Tunisian population. Methods: We designed an age- and sex-matched case-control study. The height and weight were measured and BMI was calculated. A total of 259 overweight-obese patients and 369 healthy controls were genotyped for the ACE I/D and AGT M235T genes using polymerase chain reaction and restriction fragment length polymorphism. Results: ACE I/D and AGT M235T genes were associated with BMI, waist circumference and overweight-obesity (p⩽0.001). In an additive model, the I and the M alleles in ACE and AGT variants, respectively, were associated with a lower BMI: –1.45 and −2.29 units, respectively. ACE I/D genotypes were associated with dyslipidemia; AGT M235T genotypes with dyslipidemia and total cholesterol. Conclusion: These data suggest that variations in ACE I/D and AGT M235T affect the risk of overweight-obesity, BMI and dyslipidemia, and could point to a key molecular pathway of metabolic syndrome and its related comorbidities.

scholarly journals MOLECULAR CHARACTERIZATION OF AMERICAN CUTANEOUS LEISHMANIASIS IN THE TRI‑BORDER AREA OF ASSIS BRASIL, ACRE STATE, BRAZIL

2015 ◽  
Vol 57 (4) ◽  
pp. 343-347 ◽  
Author(s):  
Carolina Bioni Garcia TELES ◽  
Jansen Fernandes MEDEIROS ◽  
Ana Paula de Azevedo dos SANTOS ◽  
Luís Antônio Rodrigues de FREITAS ◽  
Tony Hiroshi KATSURAGAWA ◽  
...  
Keyword(s):  
Cutaneous Leishmaniasis ◽  
Rural Areas ◽  
Fragment Length Polymorphism ◽  
Chain Reaction ◽  
Predominant Species ◽  
American Cutaneous Leishmaniasis ◽  
Polymerase Chain ◽  
Urban And Rural Areas ◽  
Rural Work

SUMMARY In this study, Leishmaniaspecies were identified by Polymerase Chain Reaction (PCR). The epidemiology of patients suspected of having American Cutaneous Leishmaniasis in the municipality of Assis Brasil, Acre State, located in the Brazil/Peru/Bolivia triborder was also investigated. By PCR, the DNA of Leishmaniawas detected in 100% of the cases (37 samples) and a PCR-Restriction Fragment Length Polymorphism (RFLP) of the hsp 70gene identified the species in 32 samples: Leishmania (Viannia) braziliensis (65.6%) , L. (V.) shawi (28.1%) , L. (V.) guyanensis (3.1%) and mixed infection L. (V.) guyanensis and L. (Leishmania) amazonensis (3.1%)This is the first report of L. (V.) shawiand L. (L.) amazonensis in Acre. The two predominant species were found in patients living in urban and rural areas. Most cases were found in males living in rural areas for at least three years and involved in rural work. This suggests, in most cases, a possible transmission of the disease from a rural/forest source, although some patients had not engaged in activities associated with permanence in forestall areas, which indicate a possible sandflies adaptation to the periurban setting.

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