scholarly journals Association of Polymorphic and Haplotype Variants of the MSX1 Gene and the Impacted Teeth Phenomenon

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 577
Author(s):  
Grzegorz Trybek ◽  
Aleksandra Jaroń ◽  
Anna Grzywacz
Keyword(s):  
Primary Objective ◽  
Control Group ◽  
Study Group ◽  
Nucleotide Polymorphisms ◽  
Impacted Tooth ◽  
Single Nucleotide ◽  
Impacted Teeth ◽  
Tooth Impaction ◽  
Study Participants

It is known that genetic factors determine odontogenesis; furthermore, studies have revealed that various genes in humans can regulate the development of different types and generations of teeth. In this study it has been assumed that tooth impaction—at least to some extent—also depends on the presence of specific genetic markers, especially allelic variants of the MSX1 gene. The primary objective of the study was to evaluate the suitability of selected molecular markers located within the MSX1 gene for the determination of the risk of tooth impaction in particular patients. The study participants were divided into two groups: (1) the study group—at least one secondary tooth was impacted in the jaws; (2) the control group—no impacted tooth in the jaws. Real-Time PCR and TaqMan probes were used to detect selected polymorphisms in the analyzed genes. Two single nucleotide polymorphisms of MSX1 were analyzed. After the two subgroups of patients were distinguished in the study group based on the number of impacted teeth, statistically significant differences in the frequency of genotypes described for rs12532 in the MSX1 gene were found.

scholarly journals Association between CTSS gene polymorphism and the risk of acute atherosclerotic cerebral infarction in Chinese population: a case–control study

2018 ◽  
Vol 38 (6) ◽  
Author(s):  
Lian Luo ◽  
Mingli Zhu ◽  
Jiajun Zhou
Keyword(s):  
Cerebral Infarction ◽  
Case Control Study ◽  
Case Control ◽  
Cathepsin S ◽  
Control Group ◽  
Study Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Independent Risk Factors ◽  
Control Study

Objective: To investigate the association between the gene polymorphisms of rs774320676, rs768437857, rs928508030, and rs2275235 loci of Cathepsin S (CTSS) and risk of acute atherosclerotic cerebral infarction. Methods: A total of 315 patients with acute atherosclerotic cerebral infarction (study group) and 220 healthy subjects (control group) were enrolled in the present study. The genetic polymorphism of rs774320676, rs768437857, rs928508030, and rs2275235 loci of CTSS of subjects was analyzed by PCR-Sanger sequencing. Results: The proportion of carriers with mutant T allele at rs774320676 locus and mutant G allele at rs928508030 locus of CTSS in study group was significantly higher than the proportion in control group (P=0.000, adjusted odds ratio (OR) = 1.332, 95% confidence interval (CI) = 1.200–1.460; P<0.001, adjusted OR = 1.185, 95% CI = 1.055–1.314; P=0.002). The T allele at rs774320676 locus and the G allele at rs928508030 locus of CTSS were independent risk factors for acute atherosclerotic cerebral infarction (OR = 2.534, 95% CI = 1.020–4.652, P=0.006; OR = 2.016, 95% CI = 1.031–4.385, P=0.031). Conclusion: The single nucleotide polymorphisms (SNPs) of rs774320676 and rs928508030 of CTSS gene were related with risk for acute atherosclerotic cerebral infarction. The T allele at rs774320676 locus and G allele at rs928508030 locus of CTSS were genetic susceptibility genes of acute atherosclerotic cerebral infarction.

Is the association between insulin resistance and diabetogenic haematopoietically expressed homeobox (HHEX) polymorphism (rs1111875) affected by polycystic ovary syndrome status?

2017 ◽  
Vol 29 (4) ◽  
pp. 670 ◽  
Author(s):  
F. Ramezani Tehrani ◽  
M. Zarkesh ◽  
M. Tohidi ◽  
F. Azizi ◽  
A. Zadeh-Vakili
Keyword(s):  
Insulin Resistance ◽  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Control Group ◽  
Model Assessment ◽  
Nucleotide Polymorphisms ◽  
Ovary Syndrome ◽  
Single Nucleotide ◽  
Polymerase Chain ◽  
Study Participants

Polycystic ovary syndrome (PCOS) is frequently accompanied by insulin resistance (IR). The aim of the present study was to investigate whether the genetic association between insulin resistance and two single nucleotide polymorphisms (SNPs), namely rs7903146 (C/T) in transcription factor 7-like 2 (TCF7L2) and rs1111875 (A/G) in haematopoietically expressed homeobox (HHEX), is affected by PCOS status in Iranian women. The study participants consisted of 582 women with PCOS (cases) referred to the Reproductive Endocrinology Research Center and 504 subjects without PCOS (controls), randomly selected from the Tehran Lipid and Glucose Study. Cases and controls were further subdivided to two groups according to IR status: those with and without IR. IR was identified on the basis of homeostasis model assessment of insulin resistance (HOMA-IR) ≥2.63. The SNPs in TCF7L2 and HHEX were genotyped by polymerase chain reaction–restriction fragment length polymorphism. There were no significant differences in the distribution of genotypes and alleles between cases and controls (P < 0.05). Among cases, the prevalence of the CC, CT and TT genotypes was 37.8%, 46.3% and 15.9%, respectively, whereas the prevalence of the AA, AG and GG genotypes was 13.5%, 46.1% and 40.4%, respectively. In the control group, the prevalence of the CC, CT and TT genotypes was 32.2%, 53.9% and 13.9%, respectively, whereas the prevalence of the AA, AG and GG genotypes was 11.3%, 48.6% and 40.0%, respectively. After adjustment for age and body mass index, the probability of IR was decreased by 49% among carriers of the A allele in the control group (95% confidence interval 0.33–0.78; P = 0.002). The findings of the present study suggest that the association between IR and diabetogenic polymorphisms may be affected by PCOS status.

Uterine perfusion in patients with MMP2 gene polymorphisms

GYNECOLOGY ◽  
2021 ◽  
Vol 23 (5) ◽  
pp. 413-420
Author(s):  
Tatiana E. Filipenkova ◽  
Liia N. Shcherbakova ◽  
Aleksandr V. Balatskiy ◽  
Larisa M. Samokhodskaya ◽  
Olga B. Panina
Keyword(s):  
Blood Flow ◽  
Pulsatility Index ◽  
Qualitative Assessment ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Additional Information ◽  
Uterine Perfusion ◽  
Definition Of

Aim. To investigate the effect of allelic polymorphisms of the MMP2 gene on uterine perfusion in patients planning pregnancy. Materials and methods. 95 women planning pregnancy were examined. The patients underwent clinical and laboratory examination, analysis of single nucleotide polymorphisms rs2285052 and rs243865 of the MMP2 gene, ultrasound examination on days 1825 of the menstrual cycle with an assessment of the pulsatility index of blood flow of the uterine vessels and a qualitative assessment of endometrial and subendometrial perfusion. Depending on the genotype, the patients were divided into 3 groups: first with haplotype rs2285052(A)rs243865(T), second with haplotype rs2285052(A)rs243865(С), and a third control group with rs2285052(С/С)rs243865(С/С) genotype. Results. Decreased perfusion in the subendometrial zone was found in 40.6, 44.4 and 19.4% of patients in the 1, 2 and 3 groups, respectively; decreased perfusion of endometrium in 68.8, 55.6 and 36.1% of patients in the 1, 2 and 3 groups, respectively. Spiral arteries were not visualized in 28.1, 14.8 and 11.1% of patients in the 1, 2 and 3 groups, respectively. No statistical differences were found in the pulsatility index of uterine blood flow depending on the genotype. Conclusion. In patients with the A rs2285052 and T rs243865 alleles of the MMP2 gene poor vascular patterns of the endometrium and subendometrial zone of the uterus were statistically significantly more frequent, which can lead to infertility. These associations are more pronounced for the rs2285052 polymorphism. The simultaneous determination of the rs2285052 and rs243865 polymorphisms does not provide additional information compared to the definition of rs2285052 alone.

scholarly journals Interaction of Arg194Trp and Arg399Gln genotypes with the risk of radiation on cancer patients

2019 ◽  
Vol 20 (8) ◽  
Author(s):  
HARRY NUGROHO EKO SURNIYANTORO ◽  
NASTITI RAHAJENG ◽  
YANTI LUSIYANTI ◽  
TUR RAHARDJO ◽  
DYAH ERAWATI ◽  
...  
Keyword(s):  
Dna Damage ◽  
Cancer Patients ◽  
Control Group ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mutant Genotype ◽  
Polymerase Chain ◽  
Micronuclei Assay

Abstract. Surniyantoro HNE, Rahajeng N, Lusiyanti Y, Rahardjo T, Erawati D, Choridah L, Dhamiyati W, Dwidanarti SR. 2019. Interaction of Arg194Trp and Arg399Gln genotypes with the risk of radiation on cancer patients. Biodiversitas 20: 2128-2133. Two of the common single-nucleotide polymorphisms are X-ray repair cross-complementary group 1 on exon 6 (Arg194Trp) and exon 10 (Arg399Gln). The purpose of this study was to determine the interactions between Arg194Trp and Arg399Gln genotypes combination with the risk of radiation on cancer patients in Indonesia, linked to micronuclei frequency as a biomarker of DNA damage. This study consisted of 19 patients with various cancer as the case group and 37 non-cancer participants as the control group. The determination of Arg149Trp and Arg399Gln alleles were performed using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism. Micronuclei assay was performed using Cytokinesis-block micronuclei cytome assay. The results of our study showed that micronuclei frequency was very significantly higher in the cancer patients compared to controls (111.16 ± 76.24 versus 16.89 ± 9.72, p<0.0001). Patients with heterozygous mutant genotypes CT had a lower frequency of micronuclei than patients with normal CC genotypes (105.6 ± 80.97 versus 117.33 ± 74.97). Likewise, patients with mutant genotype AA had a lower frequency of micronuclei than patients with normal GG genotype (64 versus 129.71 ± 90.68). The genetic polymorphisms of Arg194Trp and Arg399Gln demonstrated an association with the level of DNA damage on cancer patients.

scholarly journals The role of certain genetic polymorphism in development of sudden cardiac death in the Trans-Baikal Territory

2021 ◽  
pp. 35-42
Author(s):  
D.N. Zaitsev ◽  
◽  
P.V. Vasilenko ◽  
A.V. Govorin ◽  
E.A. Vasilenko ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Single Nucleotide Polymorphism ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Statistical Significance ◽  
Control Group ◽  
Study Group ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

Aim of the study. To study genetic polymorphisms rs10798 KCNQ1, rs3010396 CASQ2, rs20455 KIF6, rs2298566 SNX19, rs12143842 NOS1AP of subjects who died due to sudden cardiac death in Trans-Baikal Territory. Material and Methods. Over the period of 2017-2020, a total of 2211 autopsy protocols of subjects who died due to SCD were analysed. Th ese patient constituted the 1st study group (n=113). The control group consisted of healthy volunteers (n=70). The groups were comparable in age and gender. Molecular and genetic typing of the studied genes was performed. Results. The CC genotype of the single-nucleotide polymorphism rs3010396 CASQ2 showed statistical signifi cance in comparison with the control group(the chi-squared=26.95, df=2, p=0.001). The TT genotype was predominant in the control group amounting to 60% against 19.5% in the study group. Single-nucleotide polymorphism rs2298566 of gene SNX19 was also observed to be of statistical significance in the group of subjects who died from myocardial infarction. In the group of patients with SCD, rs20455 KIF6 and rs12143842 NOS1AP were of signifi cance along with rs3010396 CASQ2. Conclusion. Single-nucleotide polymorphism rs3010396 of the CASQ2 gene can be a predictor of sudden cardiac death, since in the 1st study group with this genotype showed its statistical signifi cance in all nosological groups. However, in the group, in which sudden cardiac death (cases coded I46.1 according to ICD-10) was indicated as the fi nal diagnosis, in addition to their statistical signifi cance single-nucleotide polymorphisms of the gene KIF6 rs20455, rs12143842 NOS1AP gene were noted; in the group where the cause of death was myocardial infarction, rs2298566 SNX19 gene polymorphism had statistical signifi cance. The results obtained make it possible to consider these polymorphisms as possible predictors of sudden cardiac death in the population of the Trans-Baikal Territory.

Development of a simple method for the determination of single nucleotide polymorphisms

2010 ◽  
Vol 34 (8) ◽  
pp. S75-S75
Author(s):  
Weifeng Zhu ◽  
Zhuoqi Liu ◽  
Daya Luo ◽  
Xinyao Wu ◽  
Fusheng Wan
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Simple Method ◽  
Single Nucleotide

Association of the CD14 C159T and the Toll-like receptor 4 Asp299Gly polymorphisms with various phenotypes of asthma in adults from Crimea

2020 ◽  
Vol 41 (2) ◽  
pp. 134-140
Author(s):  
Yuriy Bisyuk ◽  
Andrew Dubovyi ◽  
Ilona DuBuske ◽  
Viktor Litus ◽  
Lawrence M. DuBuske
Keyword(s):  
Late Onset ◽  
Adult Population ◽  
Additive Models ◽  
Atopic Asthma ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Toll Like Receptor ◽  
Toll Like Receptor 4 ◽  
Single Nucleotide ◽  
Gender And Age

Background: This study assessed gene polymorphisms of the CD14 receptor (C-159T) and Toll-like receptor 4 (Asp299Gly) in a patient population in Crimea, Ukraine, stratified by clinical (early versus late onset; frequent versus occasional relapses; fixed versus reversible obstruction) and immunologic (atopic versus nonatopic; eosinophilic; neutrophilic or paucigranulocytic inflammation) subtype. Methods: Two polymorphisms, CD14 C-159T and TLR4 Asp299Gly, were assessed in 331 patients with asthma. The control group included 285 volunteers who were nonatopic. The single nucleotide polymorphisms were studied by using polymerase chain reaction with electrophoretic detection. Results: There were increased odds of asthma development in patients with the Asp299Gly TLR4 mutation compared with the general population underdominant odds ratio (OR) 1.52 [95% confidence interval (CI), 1.00‐2.32] and overdominant (OR 1.55 [95% CI, 1.01‐2.38]) models after adjustment for gender and age. In addition, mutations in this gene decreased the odds of nonatopic asthma in underdominant (OR 0.26 [95% CI, 0.07‐0.93]; p = 0.027), overdominant (OR 0.27 [95% CI, 0.07‐0.96]; p = 0.033), and log-additive models (OR 0.26 [95% CI, 0.07‐0.93]; p = 0.026) compared with the atopic subgroup after adjustment for gender, age, number of exacerbations, and type of airway inflammation. Allele frequencies for CD14 and TLR4 polymorphisms did not show statistical differences between the patients with asthma and the control subjects. Conclusion: CD14 C-159T polymorphisms were not associated with asthma in the adult population in Crimea. TLR4 Asp299Gly polymorphisms were associated with asthma and with decreased odds of nonatopic asthma compared with atopic asthma in the adult population in Crimea.

scholarly journals Effect of Platelet-Rich Fibrin Application on Non-Infectious Complications after Surgical Extraction of Impacted Mandibular Third Molars

2021 ◽  
Vol 18 (16) ◽  
pp. 8249
Author(s):  
Grzegorz Trybek ◽  
Justyna Rydlińska ◽  
Magda Aniko-Włodarczyk ◽  
Aleksandra Jaroń
Keyword(s):  
Treatment Process ◽  
Infectious Complications ◽  
Control Group ◽  
Surgical Removal ◽  
Study Group ◽  
Impacted Tooth ◽  
Platelet Rich Fibrin ◽  
Surgical Extraction ◽  
Impacted Mandibular Third Molars ◽  
Mandibular Third Molars

Due to the frequent development of non-infectious complications after surgical removal of the third lower impacted tooth, many techniques are used to reduce their severity. Among them is the technique of applying platelet-rich fibrin to the post-extraction alveolus. The study included 90 consecutively enrolled patients. Eligible patients were randomly assigned to two groups: patients with and without platelet-rich fibrin introduced into the postoperative alveolus. Pain, swelling, trismus, and temperature were evaluated after the procedure. Pain intensity was significantly higher in the control group than in the study group at 6 h, 1, and 3 days after surgery. PRF application did not significantly affect the intensity of swelling. Body temperature was significantly higher in the control group than the study group on day two after surgery. The trismus was significantly higher in the control group than in the study group at one, two, and seven days after surgery. Application of the PRF allows for a faster and less traumatic treatment process. It will enable for speedier recovery and return to active life and professional duties.

Abstract 14359: Single Nucleotide Polymorphisms in Genes Involved in L-arginine / Dimethylarginine Metabolism Predispose for Pulmonary Hypertension and Acute Mountain Sickness at High Altitude

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Juliane Hannemann ◽  
Julia Zummack ◽  
PATRICIA SIQUES ◽  
JULIO BRITO ◽  
Rainer Boeger
Keyword(s):  
Pulmonary Hypertension ◽  
Relative Risk ◽  
Genetic Variability ◽  
High Altitude ◽  
Acute Mountain Sickness ◽  
Minor Allele ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mountain Sickness ◽  
Study Participants

Introduction: Chronic (CH) and chronic-intermittent (CIH) exposure to hypoxia at high altitude causes acute or chronic mountain sickness and elevation of mean pulmonary arterial pressure (mPAP). This is paralleled by increased plasma levels of ADMA, an endogenous inhibitor of NO synthesis. ADMA is cleaved by dimethylarginine dimethylaminohydrolase (DDAH1 and DDAH2), whilst symmetric dimethylarginine (SDMA) is cleaved by AGXT2. Arginase (ARG1 and ARG2) competes with endothelial NO synthase (NOS3) for L-arginine as substrate. We have shown previously that baseline ADMA (at sea level) determines mPAP after six months of CIH; cut-off values of 25 mm Hg and 30 mm Hg are being used to diagnose high altitude pulmonary hypertension. Hypothesis: We hypothesized that genetic variability in genes coding for core enzymes of ADMA, SDMA, and L-arginine metabolism may predispose individuals for high altitude disease and pulmonary hypertension. Methods: We genotyped 16 common single nucleotide polymorphisms in the NOS3, DDAH1, DDAH2, AGXT2, ARG1 and ARG2 genes of 69 healthy male Chilean subjects. Study participants adhered to a CIH regimen (5d at 3,550m, 2d at sea level) for six months. Metabolites were measured by LC-MS/MS; mPAP was estimated by echocardiography at six months, and altitude acclimatization was assessed by Lake Louise Score and arterial oxygen saturation. Results: Carriers of the minor allele of DDAH1 rs233112 had a higher mean baseline ADMA level (0.76±0.03 vs. 0.67±0.02 μmol/l; p<0.05), whilst the major allele of DDAH2 rs805304 was linked to an exacerbated increase of ADMA in hypoxia (0.10±0.03 vs. 0.04±0.04 μmol/l; p<0.02). Study participants carrying the minor allele of ARG1 rs2781667 had a relative risk of elevated mPAP (>25 mm Hg) of 1.70 (1.56-1.85; p<0.0001), and carriers of the minor allele of NOS3 rs2070744 had a relative risk of elevated mPAP (>30 mm Hg) of 1.58 (1.47-1.69; p<0.0001). The NOS3 and DDAH2 genes were associated with the incidence of acute mountain sickness. Conclusions: We conclude that genetic variability in the L-arginine / ADMA / NO pathway is an important determinant of high altitude pulmonary hypertension and acute mountain sickness. DDAH1 is linked to baseline ADMA, whilst DDAH2 determines the response of ADMA to hypoxia.

Is 300 Seconds ACT Safe and Efficient during MiECC Procedures?

2017 ◽  
Vol 67 (03) ◽  
pp. 191-202 ◽  
Author(s):  
Adrian Bauer ◽  
Harald Hausmann ◽  
Jan Schaarschmidt ◽  
Michal Szlapka ◽  
Martin Scharpenberg ◽  
...  
Keyword(s):  
Surface Coating ◽  
Artery Bypass ◽  
Minimal Invasive ◽  
Control Group ◽  
Study Group ◽  
Thromboembolic Complications ◽  
Clinical Safety ◽  
Loop Design ◽  
Alternative Anticoagulation ◽  
Study Participants

Introduction The recommended minimum activated clotting time (ACT) level for cardiopulmonary bypass (CPB) of 480 seconds originated from investigations with bubble oxygenators and uncoated extracorporeal circulation (ECC) systems. Modern minimal invasive ECC (MiECC) systems are completely closed circuits containing a membrane oxygenator and a tip-to-tip surface coating. We hypothesized that surface coating and the “closed-loop” design allow the MiECC to safely run with lower ACT levels and that an ACT level of 300 seconds can be safely applied without thromboembolic complications. The aim of this study was to investigate the potential risks during application of reduced heparin levels in patients undergoing coronary surgery. Methods In this study, 68 patients undergoing coronary artery bypass grafting with MiECC were randomized to either the study group with an ACT target of 300 seconds or the control group with an ACT of 450 seconds. All other factors of MiECC remained unchanged. Results The study group received significantly less heparin and protamine (heparin [international units] median [min–max], Red_AC: 32,800 [23,000–51,500] vs. Full_AC: 50,000 [35,000–65,000] p < 0.001; protamine [international units], Red_AC: 18,000 [10,000–35,000] vs. Full_AC: 30,000 [20,000–45,000] p < 0.001). The ACT in the study group was significantly lower at the start of MiECC (mean ± standard deviation: study group 400 ± 112 vs. control group 633 ± 177; p < 0.0001). Before termination of CPB the ACT levels were: study group 344 ± 60 versus control group 506 ± 80. In both groups, the values of the endogenous thrombin potential (ETP) decreased simultaneously. None of the study participants experienced thromboembolic complications. Conclusion Since no evidence of increased thrombin formation (ETP) was found from a laboratory standpoint, we concluded that the use of MiECC with a reduced anticoagulation strategy seems possible. This alternative anticoagulation strategy leads to significant reduction in dosages of both heparin and protamine. We can confidently move forward with investigating this anticoagulation concept. However, to establish clinical safety of ACT below 300 seconds, we need larger clinical studies.

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